{"id":101319,"date":"2025-06-13T15:53:40","date_gmt":"2025-06-13T06:53:40","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=101319"},"modified":"2026-07-27T06:25:16","modified_gmt":"2026-07-26T21:25:16","slug":"atp6v1b1-related-rta-hearing-loss","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/","title":{"rendered":"ATP6V1B1\u95a2\u9023 \u9060\u4f4d\u578b\u814e\u6027\u5c3f\u7d30\u7ba1\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3068\u611f\u97f3\u6027\u96e3\u8074"},"content":{"rendered":"\n<div style=\"height:20px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div style=\"border: 4px solid #e9e4f5; background-color: #fcfbff; border-radius: 12px; padding: 1.5rem; margin: 1.5rem 0 2.5rem; font-family: 'Helvetica Neue', sans-serif; line-height: 1.6; box-shadow: 0 2px 8px rgba(0, 0, 0, 0.03);\">\n  <div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/#%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E3%81%BE%E3%81%A8%E3%82%81\" >\u3084\u3055\u3057\u3044\u307e\u3068\u3081<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/#%E3%81%93%E3%81%AE%E8%A8%98%E4%BA%8B%E3%81%AE%E7%B5%90%E8%AB%96\" >\u3053\u306e\u8a18\u4e8b\u306e\u7d50\u8ad6<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/#%E3%81%93%E3%81%AE%E8%A8%98%E4%BA%8B%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8B%E3%81%93%E3%81%A8\" >\u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/#%E9%81%BA%E4%BC%9D%E5%AD%90%E9%A0%98%E5%9F%9F_Implicated_Genomic_Region\" >\u907a\u4f1d\u5b50\u9818\u57df | Implicated Genomic Region<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/#%E7%96%BE%E6%82%A3%E5%90%8D_Disorder\" >\u75be\u60a3\u540d | Disorder<\/a><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/#%E3%81%93%E3%81%AE%E7%96%BE%E6%82%A3%E3%81%AF%E6%AD%A3%E5%BC%8F%E3%81%AB%E3%81%AF\" >\u3053\u306e\u75be\u60a3\u306f\u6b63\u5f0f\u306b\u306f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/#%E3%82%92%E5%90%88%E4%BD%B5%E3%81%99%E3%82%8B%E3%82%82%E3%81%AE%E3%81%A7%E3%80%81%E4%B8%80%E8%88%AC%E3%81%AB%E3%81%AF%E6%AC%A1%E3%81%AE%E3%82%88%E3%81%86%E3%81%AB%E5%91%BC%E3%81%B0%E3%82%8C%E3%81%BE%E3%81%99\" >\u3092\u5408\u4f75\u3059\u308b\u3082\u306e\u3067\u3001\u4e00\u822c\u306b\u306f\u6b21\u306e\u3088\u3046\u306b\u547c\u3070\u308c\u307e\u3059<\/a><\/li><\/ul><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/#%E6%A6%82%E8%A6%81_Overview\" >\u6982\u8981 | Overview<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/#%E7%96%AB%E5%AD%A6_Epidemiology\" >\u75ab\u5b66 | Epidemiology<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/#%E7%97%85%E5%9B%A0_Etiology\" >\u75c5\u56e0 | Etiology<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/#%E7%97%87%E7%8A%B6_Symptoms\" >\u75c7\u72b6 | Symptoms<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/#%E9%A1%9E%E7%B8%81%E7%96%BE%E6%82%A3%E3%81%A8%E3%81%AE%E9%91%91%E5%88%A5_ATP6V0A4%E3%83%BBFOXI1%E3%83%BBWDR72%E3%83%BBSLC4A1%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84\" >\u985e\u7e01\u75be\u60a3\u3068\u306e\u9451\u5225 | ATP6V0A4\u30fbFOXI1\u30fbWDR72\u30fbSLC4A1\u3068\u306e\u9055\u3044<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/#%E6%A4%9C%E6%9F%BB%E3%83%BB%E8%A8%BA%E6%96%AD_Testing_Diagnosis\" >\u691c\u67fb\u30fb\u8a3a\u65ad | Testing &amp; Diagnosis<\/a><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/#%E8%A1%80%E6%B6%B2%E3%83%BB%E5%B0%BF%E6%A4%9C%E6%9F%BB\" >\u8840\u6db2\u30fb\u5c3f\u691c\u67fb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/#%E6%A9%9F%E8%83%BD%E6%A4%9C%E6%9F%BB\" >\u6a5f\u80fd\u691c\u67fb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/#%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB\" >\u753b\u50cf\u691c\u67fb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/#%E8%81%B4%E5%8A%9B%E6%A4%9C%E6%9F%BB\" >\u8074\u529b\u691c\u67fb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/#%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB\" >\u907a\u4f1d\u5b50\u691c\u67fb<\/a><\/li><\/ul><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/#%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%ADNIPT%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8B%E7%AF%84%E5%9B%B2\" >\u51fa\u751f\u524d\u8a3a\u65ad(NIPT)\u3067\u308f\u304b\u308b\u7bc4\u56f2<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/#%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%A8%E7%AE%A1%E7%90%86_Treatment_Management\" >\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/#%E6%B2%BB%E7%99%82%E3%81%AE%E7%9B%AE%E7%9A%84\" >\u6cbb\u7642\u306e\u76ee\u7684<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/#%E4%B8%BB%E3%81%AA%E6%B2%BB%E7%99%82\" >\u4e3b\u306a\u6cbb\u7642<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/#%E7%94%A8%E9%87%8F%E3%81%AE%E7%9B%AE%E5%AE%89\" >\u7528\u91cf\u306e\u76ee\u5b89<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/#%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E5%AF%BE%E7%AD%96\" >\u305d\u306e\u4ed6\u306e\u5bfe\u7b56<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/#%E4%BA%88%E5%BE%8C_Prognosis\" >\u4e88\u5f8c | Prognosis<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/#%E3%81%BE%E3%81%A8%E3%82%81_%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8\" >\u307e\u3068\u3081:\u3054\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/#%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F_FAQ\" >\u3088\u304f\u3042\u308b\u8cea\u554f | FAQ<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-28\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/#ATP6V1B1%E9%96%A2%E9%80%A3dRTA%E3%81%A8%E3%81%AF%E3%80%81%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >ATP6V1B1\u95a2\u9023dRTA\u3068\u306f\u3001\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u3067\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-29\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/#ATP6V0A4%E3%82%84FOXI1%E3%81%AE%E5%A4%89%E7%95%B0%E3%81%A7%E3%82%82%E5%90%8C%E3%81%98%E7%97%85%E6%B0%97%E3%81%AB%E3%81%AA%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >ATP6V0A4\u3084FOXI1\u306e\u5909\u7570\u3067\u3082\u540c\u3058\u75c5\u6c17\u306b\u306a\u308a\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-30\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/#%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%A9%E3%82%82%E3%81%AB%E3%82%82%E5%90%8C%E3%81%98%E7%97%85%E6%B0%97%E3%81%8C%E8%B5%B7%E3%81%93%E3%82%8B%E5%8F%AF%E8%83%BD%E6%80%A7%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u6b21\u306e\u5b50\u3069\u3082\u306b\u3082\u540c\u3058\u75c5\u6c17\u304c\u8d77\u3053\u308b\u53ef\u80fd\u6027\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-31\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/#%E9%9B%A3%E8%81%B4%E3%81%AF%E6%B2%BB%E7%99%82%E3%81%A7%E6%B2%BB%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u96e3\u8074\u306f\u6cbb\u7642\u3067\u6cbb\u308a\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-32\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/#%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%87%E7%8A%B6%E3%81%8C%E3%81%8D%E3%81%A3%E3%81%8B%E3%81%91%E3%81%A7%E6%B0%97%E3%81%A5%E3%81%8B%E3%82%8C%E3%82%8B%E3%81%93%E3%81%A8%E3%81%8C%E5%A4%9A%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >\u3069\u306e\u3088\u3046\u306a\u75c7\u72b6\u304c\u304d\u3063\u304b\u3051\u3067\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-33\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/#%E5%B0%86%E6%9D%A5%E3%80%81%E8%85%8E%E8%87%93%E3%81%AE%E6%A9%9F%E8%83%BD%E3%81%AF%E3%81%A9%E3%81%86%E3%81%AA%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u5c06\u6765\u3001\u814e\u81d3\u306e\u6a5f\u80fd\u306f\u3069\u3046\u306a\u308a\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-34\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/#%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AENIPT%E3%81%A7%E3%81%93%E3%81%AE%E7%97%85%E6%B0%97%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u598a\u5a20\u4e2d\u306eNIPT\u3067\u3053\u306e\u75c5\u6c17\u306f\u308f\u304b\u308a\u307e\u3059\u304b\u3002<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-35\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\" >\u5f15\u7528\u6587\u732e\uff5cReferences<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-36\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/#%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89%EF%BD%9CKeywords\" >\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/a><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top: 0; margin-bottom: 0.75rem; font-size: 1.25rem; color: #7e6cae; text-align: left; border: none; border-bottom: none; padding-bottom: 0; display: block;\"><span class=\"ez-toc-section\" id=\"%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E3%81%BE%E3%81%A8%E3%82%81\"><\/span>\u3084\u3055\u3057\u3044\u307e\u3068\u3081<span class=\"ez-toc-section-end\"><\/span><\/h2>\n  <p style=\"margin: 0; font-size: 1rem; color: #444;\">\n    <p>\n\u3053\u306e\u30da\u30fc\u30b8\u3067\u306f\u3001\u300cATP6V1B1\u95a2\u9023\u306e\u9060\u4f4d\u578b\u814e\u6027\u5c3f\u7d30\u7ba1\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3068\u611f\u97f3\u6027\u96e3\u8074\u300d\u3068\u3044\u3046\u3001\u307e\u308c\u306a\u907a\u4f1d\u6027\u75be\u60a3\u306b\u3064\u3044\u3066\u3001\u3084\u3055\u3057\u304f\u30fb\u304f\u308f\u3057\u304f\u3054\u8aac\u660e\u3057\u3066\u3044\u307e\u3059\u3002<br>\n\u814e\u81d3\u304c\u4f53\u306e\u9178\u3092\u3046\u307e\u304f\u5916\u306b\u51fa\u305b\u306a\u304f\u306a\u308b\u3053\u3068\u304b\u3089\u3001\u4f53\u6db2\u304c\u9178\u6027\u306b\u50be\u304d\u3001\u6210\u9577\u3084\u9aa8\u3001\u814e\u81d3\u306b\u5f71\u97ff\u304c\u51fa\u305f\u308a\u3001\u5b50\u3069\u3082\u306e\u3053\u308d\u304b\u3089\u8033\u304c\u805e\u3053\u3048\u306b\u304f\u304f\u306a\u3063\u305f\u308a\u3057\u307e\u3059\u3002<br>\n\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u6cd5\u3001\u5c06\u6765\u306e\u898b\u901a\u3057\u307e\u3067\u3001\u60a3\u8005\u3055\u3093\u3084\u3054\u5bb6\u65cf\u3001\u533b\u7642\u95a2\u4fc2\u8005\u306e\u65b9\u306b\u3082\u308f\u304b\u308a\u3084\u3059\u3044\u3088\u3046\u306b\u307e\u3068\u3081\u3066\u3044\u307e\u3059\u3002<br>\n\u304a\u5b50\u3055\u307e\u306e\u75c7\u72b6\u304c\u6c17\u306b\u306a\u308b\u65b9\u3001\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3070\u304b\u308a\u306e\u65b9\u306b\u3082\u5b89\u5fc3\u3057\u3066\u8aad\u3093\u3067\u3044\u305f\u3060\u3051\u308b\u5185\u5bb9\u3067\u3059\u3002\n<\/p>\n  <\/p>\n<\/div>\n\n\n\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\">\n<h2 style=\"margin-top:1rem;\"><span class=\"ez-toc-section\" id=\"%E3%81%93%E3%81%AE%E8%A8%98%E4%BA%8B%E3%81%AE%E7%B5%90%E8%AB%96\"><\/span>\u3053\u306e\u8a18\u4e8b\u306e\u7d50\u8ad6<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p><strong>ATP6V1B1\u95a2\u9023\u306e\u9060\u4f4d\u578b\u814e\u6027\u5c3f\u7d30\u7ba1\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9(dRTA)\u306f\u30012\u756a\u67d3\u8272\u4f53\u4e0a\u306eATP6V1B1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u3001\u814e\u81d3\u3067\u9178\u3092\u3046\u307e\u304f\u6392\u51fa\u3067\u304d\u306a\u304f\u306a\u308b\u4ee3\u8b1d\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3068\u3001\u4e73\u5e7c\u5150\u671f\u304b\u3089\u306e\u611f\u97f3\u6027\u96e3\u8074\u304c\u540c\u6642\u306b\u73fe\u308c\u308b\u3001\u8d85\u5e0c\u5c11\u306a\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u75be\u60a3\u3067\u3059\u3002<\/strong>\u56fd\u969b\u7684\u306b\u306fOMIM(#267300)\u3067DRTA2(\u9060\u4f4d\u578b\u814e\u6027\u5c3f\u7d30\u7ba1\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b92\u578b)\u3068\u3057\u3066\u5206\u985e\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3088\u304f\u4f3c\u305f\u540d\u524d\u306eATP6V0A4\u907a\u4f1d\u5b50\u3084FOXI1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3067\u3082\u4f3c\u305f\u75c5\u614b\u304c\u8d77\u3053\u308a\u307e\u3059\u304c\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u96e3\u8074\u306e\u51fa\u65b9\u3084\u95a2\u9023\u3059\u308b\u907a\u4f1d\u5f62\u5f0f\u304c\u7570\u306a\u308a\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001GeneReviews\u3084OMIM\u3001\u5b66\u8853\u8ad6\u6587\u306a\u3069\u306e\u516c\u7684\u30fb\u5b66\u8853\u60c5\u5831\u6e90\u306b\u3082\u3068\u3065\u304d\u3001\u539f\u56e0\u30fb\u75c7\u72b6\u30fb\u691c\u67fb\u30fb\u6cbb\u7642\u306e\u5168\u4f53\u50cf\u3068\u3001\u985e\u7e01\u75be\u60a3\u3068\u306e\u9055\u3044\u3092\u6574\u7406\u3057\u307e\u3059\u3002<\/p><\/div>\n\n\n\n<div style=\"border:solid #e6f0ff 0.6rem;background-color:#f7fbff;padding:3% 5%;margin:1rem 0 3rem;\">\n<h2 style=\"margin-top:1rem;\"><span class=\"ez-toc-section\" id=\"%E3%81%93%E3%81%AE%E8%A8%98%E4%BA%8B%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8B%E3%81%93%E3%81%A8\"><\/span>\u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<ul>\n<li>ATP6V1B1\u907a\u4f1d\u5b50\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u907a\u4f1d\u5b50\u3067\u3001\u306a\u305c\u814e\u81d3\u3068\u8033\u306e\u4e21\u65b9\u306b\u5f71\u97ff\u3059\u308b\u306e\u304b<\/li>\n<li>\u9060\u4f4d\u578b\u814e\u6027\u5c3f\u7d30\u7ba1\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9(dRTA)\u306e\u75c7\u72b6\u30fb\u691c\u67fb\u30fb\u6cbb\u7642\u306e\u6d41\u308c<\/li>\n<li>ATP6V0A4\u30fbFOXI1\u30fbWDR72\u306a\u3069\u3001\u540d\u524d\u306e\u4f3c\u305f\u907a\u4f1d\u5b50\u306b\u3088\u308b\u75c5\u6c17\u3068\u306e\u9055\u3044<\/li>\n<li>\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u907a\u4f1d\u30ea\u30b9\u30af\u3068\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u6d3b\u7528\u6cd5<\/li>\n<li>\u598a\u5a20\u4e2d\u306eNIPT\u3067\u3053\u306e\u75c5\u6c17\u304c\u308f\u304b\u308b\u304b\u3069\u3046\u304b<\/li>\n<\/ul>\n<\/div>\n\n\n\n<p>\u304a\u5b50\u3055\u3093\u306e\u691c\u67fb\u7d50\u679c\u306b\u300cATP6V1B1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u300d\u300c\u9060\u4f4d\u578b\u814e\u6027\u5c3f\u7d30\u7ba1\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u300d\u3068\u3044\u3046\u3001\u805e\u304d\u6163\u308c\u306a\u3044\u8a00\u8449\u304c\u4e26\u3073\u3001\u6238\u60d1\u3044\u306a\u304c\u3089\u3053\u306e\u30da\u30fc\u30b8\u306b\u305f\u3069\u308a\u7740\u3044\u305f\u3054\u5bb6\u65cf\u306e\u7686\u69d8\u3078\u3002<\/p>\n\n\n\n<p>\u6210\u9577\u304c\u3086\u3063\u304f\u308a\u3060\u3063\u305f\u308a\u3001\u7e70\u308a\u8fd4\u3059\u8131\u6c34\u3084\u5614\u5410\u3067\u53d7\u8a3a\u3057\u305f\u3068\u3053\u308d\u8840\u6db2\u691c\u67fb\u3067\u9178\u6027\u306b\u50be\u3044\u3066\u3044\u308b\u3053\u3068\u304c\u308f\u304b\u308a\u3001\u7cbe\u67fb\u306e\u904e\u7a0b\u3067\u96e3\u8074\u3082\u5224\u660e\u3057\u305f\u3001\u3068\u3044\u3046\u7d4c\u904e\u3092\u305f\u3069\u308b\u3054\u5bb6\u5ead\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u4e16\u754c\u7684\u306b\u898b\u3066\u3082\u5831\u544a\u6570\u306e\u5c11\u306a\u3044\u5e0c\u5c11\u75be\u60a3\u306e\u305f\u3081\u3001\u65e5\u672c\u8a9e\u3067\u66f8\u304b\u308c\u305f\u8a73\u3057\u3044\u60c5\u5831\u306f\u307e\u3060\u9650\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u6f5c\u6027\u907a\u4f1d\u300d\u3068\u3044\u3046\u8a00\u8449\u3084\u898b\u6163\u308c\u306a\u3044\u907a\u4f1d\u5b50\u540d\u306b\u5727\u5012\u3055\u308c\u3066\u3057\u307e\u3046\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u539f\u56e0\u304c\u308f\u304b\u3063\u305f\u3068\u3044\u3046\u3053\u3068\u306f\u3001\u4eca\u5f8c\u306e\u6cbb\u7642\u65b9\u91dd\u3084\u8074\u529b\u306e\u652f\u63f4\u8a08\u753b\u3092\u7acb\u3066\u308b\u305f\u3081\u306e\u5730\u56f3\u3092\u624b\u306b\u5165\u308c\u305f\u3068\u3044\u3046\u3053\u3068\u3067\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%90%E9%A0%98%E5%9F%9F_Implicated_Genomic_Region\"><\/span>\u907a\u4f1d\u5b50\u9818\u57df | Implicated Genomic Region<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><strong>ATP6V1B1<\/strong><\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"25\" src=\"\/nipt\/wp-content\/uploads\/2025\/06\/9c102d7d1d3907797b79d919020240c1-1024x25.png\" alt=\"ATP6V1B (ATP6V1B1)\" class=\"wp-image-101320\"\/><\/figure><\/div>\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p><strong>ATP6V1B1\u907a\u4f1d\u5b50\u306f\u3001\u30d2\u30c8\u7b2c2\u67d3\u8272\u4f53\u77ed\u8155\u306e2p13.3\u9818\u57df\u306b\u4f4d\u7f6e\u3059\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/strong>ATPase H+ Transporting V1 Subunit B1\u3068\u3044\u3046\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3\u3067\u3042\u308a\u3001\u7d30\u80de\u5185\u5916\u306e\u9178\u6027\u5ea6(pH)\u3092\u8abf\u7bc0\u3059\u308b\u305f\u3081\u306b\u6c34\u7d20\u30a4\u30aa\u30f3(H\u207a)\u3092\u8f38\u9001\u3059\u308b\u30dd\u30f3\u30d7\u3001\u6db2\u80de\u578bH\u207a-ATP\u30a2\u30fc\u30bc(V-ATPase)\u306eV1\u30c9\u30e1\u30a4\u30f3B1\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u30d7\u30ed\u30c8\u30f3\u30dd\u30f3\u30d7\u306f\u3001\u814e\u81d3\u306e\u96c6\u5408\u7ba1\u306b\u3042\u308b\u30bf\u30a4\u30d7A\u9593\u5728\u7d30\u80de\u3068\u3001\u5185\u8033(\u306a\u3044\u3058)\u306b\u5b58\u5728\u3057\u3001\u5c3f\u306e\u9178\u6027\u5316\u3084\u5185\u30ea\u30f3\u30d1\u6db2\u306epH\u7dad\u6301\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002\u540c\u3058\u30dd\u30f3\u30d7\u304c\u50cd\u304f\u81d3\u5668\u304c2\u3064\u3042\u308b\u304b\u3089\u3053\u305d\u30011\u3064\u306e\u907a\u4f1d\u5b50\u5909\u7570\u3067\u814e\u81d3\u3068\u8033\u306e\u4e21\u65b9\u306b\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E6%82%A3%E5%90%8D_Disorder\"><\/span>\u75be\u60a3\u540d | Disorder<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u3053\u306e\u75c5\u6c17\u306f\u3001\u56fd\u969b\u7684\u306a\u75be\u60a3\u5206\u985e\u3067\u306fOMIM(#267300)\u300c\u9060\u4f4d\u578b\u814e\u6027\u5c3f\u7d30\u7ba1\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b92\u578b(Distal Renal Tubular Acidosis 2, DRTA2)\u3001\u9032\u884c\u6027\u611f\u97f3\u6027\u96e3\u8074\u3092\u4f34\u3046\u300d\u3068\u3057\u3066\u767b\u9332\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/strong>\u6b63\u5f0f\u306a\u75c5\u540d\u306e\u69cb\u6210\u3092\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%93%E3%81%AE%E7%96%BE%E6%82%A3%E3%81%AF%E6%AD%A3%E5%BC%8F%E3%81%AB%E3%81%AF\"><\/span>\u3053\u306e\u75be\u60a3\u306f\u6b63\u5f0f\u306b\u306f<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u9060\u4f4d\u578b\u814e\u6027\u5c3f\u7d30\u7ba1\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9(Distal Renal Tubular Acidosis: dRTA)<br>\u611f\u97f3\u6027\u96e3\u8074(Sensorineural Hearing Loss: SNHL)<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%92%E5%90%88%E4%BD%B5%E3%81%99%E3%82%8B%E3%82%82%E3%81%AE%E3%81%A7%E3%80%81%E4%B8%80%E8%88%AC%E3%81%AB%E3%81%AF%E6%AC%A1%E3%81%AE%E3%82%88%E3%81%86%E3%81%AB%E5%91%BC%E3%81%B0%E3%82%8C%E3%81%BE%E3%81%99\"><\/span>\u3092\u5408\u4f75\u3059\u308b\u3082\u306e\u3067\u3001\u4e00\u822c\u306b\u306f\u6b21\u306e\u3088\u3046\u306b\u547c\u3070\u308c\u307e\u3059<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>ATP6V1B1\u95a2\u9023 \u9060\u4f4d\u578b\u814e\u6027\u5c3f\u7d30\u7ba1\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3068\u96e3\u8074<\/li>\n\n\n\n<li>DRTA2(\u9060\u4f4d\u578b\u814e\u6027\u5c3f\u7d30\u7ba1\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b92\u578b)<\/li>\n\n\n\n<li>\u96e3\u8074\u3092\u4f34\u3046\u814e\u6027\u5c3f\u7d30\u7ba1\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9<\/li>\n<\/ul>\n\n\n\n<p>\u306a\u304a\u300c\u9060\u4f4d\u578bRTA\u30bf\u30a4\u30d71\u300d\u3068\u3044\u3046\u53e4\u3044\u901a\u79f0\u304c\u4f7f\u308f\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u3053\u308c\u306f\u814e\u81d3\u5185\u79d1\u9818\u57df\u3067\u306e\u81e8\u5e8a\u5206\u985e\u4e0a\u306e\u547c\u3073\u65b9\u3067\u3042\u308a\u3001\u907a\u4f1d\u5b50\u3054\u3068\u306b\u756a\u53f7\u304c\u632f\u3089\u308c\u308bOMIM\u306e\u5206\u985e(DRTA2)\u3068\u306f\u4f53\u7cfb\u304c\u7570\u306a\u308a\u307e\u3059\u3002\u539f\u56e0\u907a\u4f1d\u5b50\u3067\u4f1a\u8a71\u3092\u3059\u308b\u969b\u306f\u3001ATP6V1B1\u95a2\u9023(DRTA2)\u3068\u660e\u8a18\u3059\u308b\u3068\u6df7\u540c\u3092\u907f\u3051\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A6%82%E8%A6%81_Overview\"><\/span>\u6982\u8981 | Overview<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u3053\u306e\u75c5\u6c17\u306f\u3001\u814e\u81d3\u306e\u5c3f\u7d30\u7ba1\u304c\u9178\u3092\u5c3f\u306b\u9069\u5207\u306b\u6392\u51fa\u3067\u304d\u306a\u3044\u305f\u3081\u306b\u4f53\u6db2\u304c\u9178\u6027\u306b\u50be\u304f\u3001\u6162\u6027\u7684\u306a\u4ee3\u8b1d\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3092\u5f15\u304d\u8d77\u3053\u3059\u75be\u60a3\u3067\u3059\u3002<\/strong>\u52a0\u3048\u3066\u3001\u5185\u8033\u306epH\u74b0\u5883\u304c\u4fdd\u3066\u306a\u304f\u306a\u308b\u3053\u3068\u3067\u611f\u97f3\u6027\u96e3\u8074\u304c\u751f\u3058\u308b\u70b9\u304c\u5927\u304d\u306a\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u75c7\u72b6\u306f\u4e73\u5150\u671f\u307e\u305f\u306f\u5c0f\u5150\u671f\u306b\u59cb\u307e\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u653e\u7f6e\u3059\u308b\u3068\u6210\u9577\u969c\u5bb3\u3001\u9aa8\u306e\u7570\u5e38\u3001\u814e\u7d50\u77f3\u3001\u6162\u6027\u814e\u75be\u60a3(CKD)\u306a\u3069\u3092\u5f15\u304d\u8d77\u3053\u3059\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u81ea\u8eab\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u5834\u3067\u3001\u7e70\u308a\u8fd4\u3059\u5614\u5410\u3084\u4f53\u91cd\u5897\u52a0\u4e0d\u826f\u3092\u304d\u3063\u304b\u3051\u306b\u8840\u6db2\u691c\u67fb\u3092\u53d7\u3051\u3001\u4ee3\u8b1d\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u304c\u898b\u3064\u304b\u3063\u3066\u521d\u3081\u3066\u7cbe\u67fb\u304c\u59cb\u307e\u308a\u3001\u305d\u306e\u904e\u7a0b\u3067\u96e3\u8074\u3082\u5224\u660e\u3057\u305f\u3068\u3044\u3046\u3054\u5bb6\u65cf\u306b\u304a\u4f1a\u3044\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u814e\u81d3\u306e\u75c7\u72b6\u304c\u5148\u306b\u898b\u3064\u304b\u308a\u3001\u8074\u529b\u306e\u554f\u984c\u306f\u5f8c\u304b\u3089\u6c17\u3065\u304b\u308c\u308b\u3068\u3044\u3046\u7d4c\u904e\u306f\u3001\u3053\u306e\u75c5\u6c17\u3067\u306f\u73cd\u3057\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%AB%E5%AD%A6_Epidemiology\"><\/span>\u75ab\u5b66 | Epidemiology<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>ATP6V1B1\u95a2\u9023dRTA\u306f\u3001\u907a\u4f1d\u6027\u306e\u814e\u5c3f\u7d30\u7ba1\u75be\u60a3\u306e\u306a\u304b\u3067\u3082\u5831\u544a\u6570\u304c\u3068\u304f\u306b\u5c11\u306a\u3044\u3001\u975e\u5e38\u306b\u307e\u308c\u306a\u75be\u60a3\u3067\u3059\u3002<\/strong>\u6b63\u78ba\u306a\u983b\u5ea6\u306e\u7b97\u51fa\u306f\u96e3\u3057\u3044\u3082\u306e\u306e\u3001\u516c\u7684\u306a\u5b66\u8853\u60c5\u5831\u6e90\u3092\u3082\u3068\u306b\u3001\u308f\u304b\u3063\u3066\u3044\u308b\u7bc4\u56f2\u3092\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\u306eGeneReviews\u300cHereditary Distal Renal Tubular Acidosis\u300d\u306b\u3088\u308b\u3068\u3001\u907a\u4f1d\u6027\u9060\u4f4d\u578bRTA\u5168\u4f53(ATP6V1B1\u30fbATP6V0A4\u30fbFOXI1\u30fbWDR72\u30fbSLC4A1\u306e5\u907a\u4f1d\u5b50\u3092\u3042\u308f\u305b\u305f\u5408\u8a08)\u306e\u63a8\u5b9a\u6709\u75c5\u7387\u306f\u300110\u4e07\u4eba\u3042\u305f\u308a4.6\u4eba(\u78ba\u5b9a\u8a3a\u65ad\u4f8b)\u304b\u308916\u4eba(\u78ba\u5b9a\u4f8b\u3068\u7591\u3044\u4f8b\u3092\u3042\u308f\u305b\u305f\u63a8\u5b9a)\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u307e\u3067\u306b\u4e16\u754c\u3067\u5831\u544a\u3055\u308c\u305f\u75c7\u4f8b\u306f\u7d04350\u4f8b\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u539f\u56e0\u907a\u4f1d\u5b50\u5225\u306b\u898b\u308b\u3068\u3001ATP6V1B1\u5909\u7570\u306b\u3088\u308b\u75c7\u4f8b\u306f\u907a\u4f1d\u6027\u9060\u4f4d\u578bRTA\u5168\u4f53\u306e\u304a\u3088\u305d3\u5272\u3092\u5360\u3081\u308b\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3044\u3068\u3053\u5a5a\u306a\u3069\u8fd1\u89aa\u8005\u9593\u306e\u5a5a\u59fb\u304c\u6bd4\u8f03\u7684\u591a\u3044\u5730\u57df\u3067\u306f\u3001\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u6027\u8cea\u4e0a\u3001\u5831\u544a\u983b\u5ea6\u304c\u9ad8\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u7279\u5b9a\u306e\u6c11\u65cf\u96c6\u56e3\u3067\u306e\u75c7\u4f8b\u5831\u544a\u3082\u8907\u6570\u3042\u308a\u307e\u3059\u304c\u3001\u4e16\u754c\u5404\u5730\u304b\u3089\u5831\u544a\u304c\u3042\u308a\u3001\u5c0f\u5150\u671f\u306b\u8a3a\u65ad\u3055\u308c\u308b\u30b1\u30fc\u30b9\u304c\u4e2d\u5fc3\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E5%9B%A0_Etiology\"><\/span>\u75c5\u56e0 | Etiology<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u3053\u306e\u75be\u60a3\u306e\u4e3b\u306a\u539f\u56e0\u306f\u3001ATP6V1B1\u907a\u4f1d\u5b50\u306e\u4e21\u65b9\u306e\u30b3\u30d4\u30fc\u306b\u5909\u7570\u304c\u3042\u308b\u3053\u3068\u3001\u3059\u306a\u308f\u3061<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-recessive-genetics-support\/\">\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d<\/a>\u3067\u3059\u3002<\/strong>\u3054\u4e21\u89aa\u306f\u305d\u308c\u305e\u308c1\u3064\u305a\u3064\u5909\u7570\u907a\u4f1d\u5b50\u3092\u6301\u3064\u4fdd\u56e0\u8005\u3067\u3042\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3001\u901a\u5e38\u306f\u7121\u75c7\u72b6\u306e\u307e\u307e\u751f\u6d3b\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>ATP6V1B1\u306f\u3001\u814e\u81d3\u306e\u30bf\u30a4\u30d7A\u9593\u5728\u7d30\u80de\u3067\u50cd\u304fV-ATPase\u30dd\u30f3\u30d7\u306eB1\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u3092\u4f5c\u308b\u907a\u4f1d\u5b50\u3067\u3042\u308a\u3001\u3053\u306e\u30dd\u30f3\u30d7\u306f\u5c3f\u4e2d\u3078\u306e\u9178\u306e\u5206\u6ccc\u3092\u62c5\u3044\u307e\u3059\u3002\u5909\u7570\u306b\u3088\u308a\u30dd\u30f3\u30d7\u304c\u6b63\u5e38\u306b\u6a5f\u80fd\u3057\u306a\u304f\u306a\u308b\u3068\u3001\u5c3f\u304c\u9069\u5207\u306b\u9178\u6027\u5316\u3055\u308c\u305a\u3001\u4f53\u306b\u9178\u304c\u305f\u307e\u3063\u3066\u3057\u307e\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5185\u8033\u306b\u304a\u3044\u3066\u3082\u3053\u306e\u30dd\u30f3\u30d7\u306f\u5185\u30ea\u30f3\u30d1\u6db2\u306e\u9178\u6027\u5ea6\u3092\u8abf\u6574\u3059\u308b\u305f\u3081\u3001\u540c\u3058\u5909\u7570\u304c\u8074\u529b\u4f4e\u4e0b\u306b\u3082\u3064\u306a\u304c\u308a\u307e\u3059\u3002\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u306e\u305b\u3044\u3067\u3082\u306a\u304f\u3001\u598a\u5a20\u4e2d\u306e\u751f\u6d3b\u7fd2\u6163\u304c\u539f\u56e0\u306b\u306a\u308b\u3082\u306e\u3067\u3082\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/homocystinuria-cbs-deficiency-overview\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30b7\u30b9\u30bf\u30c1\u30aa\u30cb\u30f3\u03b2-\u30b7\u30f3\u30bf\u30fc\u30bc\u6b20\u640d\u306b\u3088\u308b\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7\u3010CBS\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7\uff08CBS\u6b20\u640d\u75c7\uff09\u306f\u3001\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u304c\u4f53\u306b\u305f\u307e\u308b\u3053\u3068\u3067\u76ee\u3084\u9aa8\u3001\u8840\u7ba1\u306a\u3069\u306b\u5f71\u97ff\u3059\u308b\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u75c7\u3067\u3059\u3002\u3084\u3055\u3057\u304f\u89e3\u8aac\uff5c\u30d2\u30ed\u30af\u30ea\u30cb...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%87%E7%8A%B6_Symptoms\"><\/span>\u75c7\u72b6 | Symptoms<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u75c7\u72b6\u306f\u814e\u81d3\u306e\u9178\u6392\u51fa\u969c\u5bb3\u306b\u3088\u308b\u5168\u8eab\u75c7\u72b6\u3068\u3001\u5185\u8033\u306e\u969c\u5bb3\u306b\u3088\u308b\u96e3\u8074\u306b\u5927\u304d\u304f\u5206\u3051\u3089\u308c\u307e\u3059\u3002<\/strong>\u4e3b\u306b\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u75c7\u72b6\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6210\u9577\u969c\u5bb3(\u4f53\u91cd\u304c\u5897\u3048\u306a\u3044\u3001\u8eab\u9577\u304c\u4f38\u3073\u306a\u3044)<\/li>\n\n\n\n<li>\u5614\u5410(\u304a\u3046\u3068)\u3001\u8131\u6c34\u3001\u591a\u5c3f<\/li>\n\n\n\n<li>\u4f4e\u30ab\u30ea\u30a6\u30e0\u8840\u75c7(\u8840\u6db2\u4e2d\u306e\u30ab\u30ea\u30a6\u30e0\u4e0d\u8db3)\u306b\u3088\u308b\u7b4b\u529b\u4f4e\u4e0b\u3001\u307e\u308c\u306b\u9ebb\u75fa<\/li>\n\n\n\n<li>\u9aa8\u306e\u7570\u5e38\n<ul class=\"wp-block-list\">\n<li>\u5b50\u3069\u3082\u3067\u306f\u304f\u308b\u75c5(\u9aa8\u306e\u3084\u308f\u3089\u304b\u3055\u3001O\u811a)<\/li>\n\n\n\n<li>\u6210\u4eba\u3067\u306f\u9aa8\u8edf\u5316\u75c7(\u9aa8\u306e\u75db\u307f\u3001\u9aa8\u6298\u3057\u3084\u3059\u3044)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u814e\u7d50\u77f3\u30fb\u814e\u77f3\u7070\u6c88\u7740(\u30cd\u30d5\u30ed\u30ab\u30eb\u30b7\u30ce\u30fc\u30b7\u30b9)<\/li>\n\n\n\n<li>\u611f\u97f3\u6027\u96e3\u8074(\u4e21\u8033\u306b\u8d77\u3053\u308a\u3084\u3059\u304f\u3001\u4e73\u5150\u671f\u304b\u3089\u9032\u884c\u3059\u308b\u3053\u3068\u304c\u591a\u3044)\n<ul class=\"wp-block-list\">\n<li>\u753b\u50cf\u691c\u67fb\u3067\u524d\u5ead\u6c34\u7ba1\u62e1\u5927(enlarged vestibular aqueduct, EVA)\u304c\u78ba\u8a8d\u3055\u308c\u308b\u75c7\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>\u75c7\u72b6\u306e\u91cd\u3055\u3084\u3042\u3089\u308f\u308c\u308b\u9806\u756a\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002\u814e\u81d3\u306e\u75c7\u72b6\u3060\u3051\u304c\u5148\u306b\u76ee\u7acb\u3061\u3001\u96e3\u8074\u306f\u8074\u529b\u691c\u67fb\u3067\u521d\u3081\u3066\u6307\u6458\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308c\u3070\u3001\u9006\u306b\u96e3\u8074\u3078\u306e\u6c17\u3065\u304d\u3092\u304d\u3063\u304b\u3051\u306b\u814e\u81d3\u306e\u7cbe\u67fb\u3078\u9032\u3080\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%A1%9E%E7%B8%81%E7%96%BE%E6%82%A3%E3%81%A8%E3%81%AE%E9%91%91%E5%88%A5_ATP6V0A4%E3%83%BBFOXI1%E3%83%BBWDR72%E3%83%BBSLC4A1%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84\"><\/span>\u985e\u7e01\u75be\u60a3\u3068\u306e\u9451\u5225 | ATP6V0A4\u30fbFOXI1\u30fbWDR72\u30fbSLC4A1\u3068\u306e\u9055\u3044<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u9060\u4f4d\u578b\u814e\u6027\u5c3f\u7d30\u7ba1\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u306f\u3001ATP6V1B1\u4ee5\u5916\u306b\u3082ATP6V0A4\u30fbFOXI1\u30fbWDR72\u30fbSLC4A1\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3067\u3082\u8d77\u3053\u308a\u3001\u96e3\u8074\u306e\u6709\u7121\u3084\u767a\u75c7\u6642\u671f\u304c\u907a\u4f1d\u5b50\u3054\u3068\u306b\u7570\u306a\u308a\u307e\u3059\u3002<\/strong>\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\u306e<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK547595\/\" target=\"_blank\" rel=\"noopener\">GeneReviews\u300cHereditary Distal Renal Tubular Acidosis\u300d<\/a>\u306e\u60c5\u5831\u3092\u3082\u3068\u306b\u3001\u4ee3\u8868\u7684\u306a\u9055\u3044\u3092\u8868\u306b\u307e\u3068\u3081\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><thead><tr><th>\u907a\u4f1d\u5b50<\/th><th>\u67d3\u8272\u4f53\u4e0a\u306e\u4f4d\u7f6e<\/th><th>\u907a\u4f1d\u5f62\u5f0f<\/th><th>\u96e3\u8074\u306e\u7279\u5fb4<\/th><th>\u907a\u4f1d\u6027dRTA\u5168\u4f53\u306b\u5360\u3081\u308b\u5272\u5408(\u76ee\u5b89)<\/th><\/tr><\/thead><tbody><tr><td>ATP6V1B1(\u672c\u8a18\u4e8b)<\/td><td>2p13.3<\/td><td>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027<\/td><td>\u4e73\u5150\u671f\u65e9\u671f\u304b\u3089\u306e\u611f\u97f3\u6027\u96e3\u8074\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044<\/td><td>\u7d043\u5272<\/td><\/tr><tr><td>ATP6V0A4<\/td><td>7q34<\/td><td>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027<\/td><td>\u96e3\u8074\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u304c\u3001ATP6V1B1\u3068\u6bd4\u3079\u3084\u3084\u9045\u308c\u3066\u51fa\u73fe\u3059\u308b\u50be\u5411<\/td><td>\u7d044\u5272(\u6700\u3082\u983b\u5ea6\u304c\u9ad8\u3044)<\/td><\/tr><tr><td>FOXI1<\/td><td>5q35.1<\/td><td>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027<\/td><td>\u65e9\u671f\u304b\u3089\u306e\u96e3\u8074\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044(\u5831\u544a\u4f8b\u306f\u6570\u5bb6\u7cfb\u306e\u307f)<\/td><td>\u3054\u304f\u308f\u305a\u304b<\/td><\/tr><tr><td>WDR72<\/td><td>15q21.3<\/td><td>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027<\/td><td>\u96e3\u8074\u306f\u3068\u3082\u306a\u308f\u306a\u3044(\u30a8\u30ca\u30e1\u30eb\u8cea\u5f62\u6210\u4e0d\u5168\u3092\u5408\u4f75)<\/td><td>\u8907\u6570\u5bb6\u7cfb\u306e\u5831\u544a\u3042\u308a<\/td><\/tr><tr><td>SLC4A1<\/td><td>17q21.31<\/td><td>\u6f5c\u6027\u30fb\u9855\u6027\u306e\u4e21\u65b9\u306e\u5831\u544a\u3042\u308a<\/td><td>\u96e3\u8074\u306f\u3068\u3082\u306a\u308f\u306a\u3044<\/td><td>\u7d041\u301c2\u5272<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u8868\u306e\u5272\u5408\u306fGeneReviews\u304c\u5831\u544a\u3059\u308b\u76ee\u5b89\u3067\u3042\u308a\u3001\u75c7\u4f8b\u306e\u84c4\u7a4d\u306b\u3088\u3063\u3066\u4eca\u5f8c\u5909\u308f\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u5171\u901a\u3057\u3066\u3044\u308b\u306e\u306f\u3001\u3044\u305a\u308c\u3082\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d(SLC4A1\u306e\u307f\u4e00\u90e8\u9855\u6027\u907a\u4f1d\u306e\u5831\u544a\u3042\u308a)\u3067\u3042\u308b\u70b9\u3068\u3001V-ATPase\u3068\u3044\u3046\u30dd\u30f3\u30d7\u306e\u6a5f\u80fd\u4f4e\u4e0b\u304c\u6839\u672c\u306b\u3042\u308b\u70b9\u3067\u3059\u3002\u907a\u4f1d\u5b50\u304c\u7570\u306a\u308c\u3070\u96e3\u8074\u306e\u6709\u7121\u3084\u5408\u4f75\u75c7\u3082\u5909\u308f\u308b\u305f\u3081\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A4%9C%E6%9F%BB%E3%83%BB%E8%A8%BA%E6%96%AD_Testing_Diagnosis\"><\/span>\u691c\u67fb\u30fb\u8a3a\u65ad | Testing &amp; Diagnosis<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u8a3a\u65ad\u306f\u3001\u8840\u6db2\u30fb\u5c3f\u691c\u67fb\u306b\u3088\u308b\u4ee3\u8b1d\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u306e\u78ba\u8a8d\u3068\u3001\u753b\u50cf\u691c\u67fb\u30fb\u8074\u529b\u691c\u67fb\u30fb\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u308f\u308c\u307e\u3059\u3002<\/strong>\u305d\u308c\u305e\u308c\u306e\u691c\u67fb\u3067\u78ba\u8a8d\u3059\u308b\u5185\u5bb9\u3092\u898b\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A1%80%E6%B6%B2%E3%83%BB%E5%B0%BF%E6%A4%9C%E6%9F%BB\"><\/span>\u8840\u6db2\u30fb\u5c3f\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4ee3\u8b1d\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9(\u8840\u6db2\u304c\u9178\u6027\u306b)<\/li>\n\n\n\n<li>\u4f4e\u30ab\u30ea\u30a6\u30e0\u8840\u75c7<\/li>\n\n\n\n<li>\u5c3fpH\u304c\u9ad8\u3081(\u5c3f\u304c\u5341\u5206\u306b\u9178\u6027\u5316\u3067\u304d\u3066\u3044\u306a\u3044)<\/li>\n\n\n\n<li>\u9ad8\u30ab\u30eb\u30b7\u30a6\u30e0\u5c3f\u3001\u4f4e\u30af\u30a8\u30f3\u9178\u5c3f<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A9%9F%E8%83%BD%E6%A4%9C%E6%9F%BB\"><\/span>\u6a5f\u80fd\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30d5\u30ed\u30bb\u30df\u30c9+\u30d5\u30eb\u30c9\u30ed\u30b3\u30eb\u30c1\u30be\u30f3\u8ca0\u8377\u8a66\u9a13(\u5c3f\u9178\u6027\u5316\u80fd\u529b\u3092\u8a55\u4fa1)<\/li>\n\n\n\n<li>\u30a2\u30f3\u30e2\u30cb\u30a6\u30e0\u5869\u8ca0\u8377\u8a66\u9a13(\u73fe\u5728\u306f\u3042\u307e\u308a\u4f7f\u7528\u3055\u308c\u307e\u305b\u3093)<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB\"><\/span>\u753b\u50cf\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u814e\u81d3:\u30a8\u30b3\u30fc\u3084CT\u3067\u814e\u7d50\u77f3\u30fb\u77f3\u7070\u5316\u306e\u6709\u7121\u3092\u78ba\u8a8d<\/li>\n\n\n\n<li>\u8033:CT\u3084MRI\u3067\u524d\u5ead\u6c34\u7ba1\u62e1\u5927(EVA)\u3092\u78ba\u8a8d<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%81%B4%E5%8A%9B%E6%A4%9C%E6%9F%BB\"><\/span>\u8074\u529b\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30aa\u30fc\u30b8\u30aa\u30b0\u30e9\u30e0(\u7d14\u97f3\u8074\u529b\u691c\u67fb)<\/li>\n\n\n\n<li>\u8074\u6027\u8133\u5e79\u53cd\u5fdc(ABR)\u306a\u3069<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB\"><\/span>\u907a\u4f1d\u5b50\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u78ba\u5b9a\u8a3a\u65ad\u306e\u305f\u3081\u306b\u306f\u3001ATP6V1B1\u907a\u4f1d\u5b50\u3084\u95a2\u9023\u907a\u4f1d\u5b50(ATP6V0A4\u3001FOXI1\u3001SLC4A1\u306a\u3069)\u306e\u5909\u7570\u3092\u8abf\u3079\u308b\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u884c\u308f\u308c\u307e\u3059\u3002\u82f1\u56fd\u306e\u7814\u7a76\u30b0\u30eb\u30fc\u30d7\u304c5\u5bb6\u7cfb\u3092\u5bfe\u8c61\u306b\u884c\u3063\u305f<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/23923981\/\" target=\"_blank\" rel=\"noopener\">\u81e8\u5e8a\u30fb\u907a\u4f1d\u5b66\u7684\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u306e\u89e3\u6790(Ashton EJ, et al. 2013)<\/a>\u3067\u3082\u3001ATP6V1B1\u306e\u5909\u7570\u3092\u6301\u3064\u60a3\u8005\u5168\u4f8b\u3067\u65e9\u671f\u767a\u75c7\u306e\u611f\u97f3\u6027\u96e3\u8074\u304c\u78ba\u8a8d\u3055\u308c\u3066\u304a\u308a\u3001\u907a\u4f1d\u5b50\u578b\u3068\u81e8\u5e8a\u50cf\u306e\u5bfe\u5fdc\u3065\u3051\u306b\u5f79\u7acb\u3066\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8a3a\u65ad\u306e\u78ba\u5b9a\u306b\u6709\u7528\u3067\u3059<\/li>\n\n\n\n<li>\u5bb6\u65cf\u3078\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u571f\u53f0\u306b\u306a\u308a\u307e\u3059<\/li>\n<\/ul>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan-finder\/\" target=\"_blank\" rel=\"noopener\">\u30d7\u30e9\u30f3\u8a3a\u65ad\u3067\u81ea\u5206\u306b\u5408\u3046\u691c\u67fb\u3092\u63a2\u3059<\/a><\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%ADNIPT%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8B%E7%AF%84%E5%9B%B2\"><\/span>\u51fa\u751f\u524d\u8a3a\u65ad(NIPT)\u3067\u308f\u304b\u308b\u7bc4\u56f2<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>ATP6V1B1\u95a2\u9023dRTA\u306f1\u3064\u306e\u907a\u4f1d\u5b50\u306e\u5909\u5316\u3067\u8d77\u3053\u308b\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u3067\u3042\u308a\u3001NIPT\u306e\u57fa\u672c\u691c\u67fb\u304c\u5bfe\u8c61\u3068\u3059\u308b21\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u306a\u3069\u306e\u67d3\u8272\u4f53\u6570\u306e\u7570\u5e38\u3068\u306f\u3001\u691c\u51fa\u306e\u3057\u304f\u307f\u304c\u307e\u3063\u305f\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u307e\u3067\u5bfe\u8c61\u7bc4\u56f2\u3092\u5e83\u3052\u305f\u62e1\u5927NIPT\u306e\u30d7\u30e9\u30f3\u3082\u3042\u308a\u3001\u30d7\u30e9\u30f3\u306b\u3088\u3063\u3066\u306f\u6570\u767e\u7a2e\u985e\u306e\u907a\u4f1d\u5b50\u3092\u5bfe\u8c61\u3068\u3059\u308b\u691c\u67fb\u9805\u76ee\u304c\u7528\u610f\u3055\u308c\u3066\u3044\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u305f\u3060\u3057\u3001ATP6V1B1\u306e\u3088\u3046\u306a\u8d85\u5e0c\u5c11\u75be\u60a3\u304c\u500b\u5225\u306e\u691c\u67fb\u5bfe\u8c61\u306b\u542b\u307e\u308c\u308b\u304b\u3069\u3046\u304b\u306f\u3001\u691c\u67fb\u65bd\u8a2d\u3084\u30d7\u30e9\u30f3\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002\u3054\u81ea\u8eab\u304c\u691c\u8a0e\u3057\u3066\u3044\u308b\u691c\u67fb\u30d7\u30e9\u30f3\u306e\u5bfe\u8c61\u7bc4\u56f2\u306f\u3001\u53d7\u691c\u524d\u306b\u533b\u5e2b\u3084\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3078\u76f4\u63a5\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p><strong>\u3082\u3046\u4e00\u3064\u77e5\u3063\u3066\u304a\u3044\u3066\u3044\u305f\u3060\u304d\u305f\u3044\u306e\u306f\u3001NIPT\u306f\u3042\u304f\u307e\u3067\u975e\u78ba\u5b9a\u7684\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u3060\u3068\u3044\u3046\u70b9\u3067\u3059\u3002<\/strong>\u6c17\u306b\u306a\u308b\u6240\u898b\u304c\u51fa\u305f\u5834\u5408\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306a\u3069\u306e\u78ba\u5b9a\u691c\u67fb\u3067\u8a3a\u65ad\u3092\u56fa\u3081\u308b\u6d41\u308c\u306b\u306a\u308a\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-positive-false-positive-guide\/\">NIPT\u967d\u6027\u3068\u507d\u967d\u6027\u306e\u4ed5\u7d44\u307f<\/a>\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/principles-of-nipt\/\">NIPT\u306e\u691c\u67fb\u624b\u9806<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u4eca\u56de\u3001\u3053\u306e\u75c5\u6c17\u306b\u95a2\u3059\u308b\u56fd\u5185\u306e\u5b9f\u4f53\u9a13\u306e\u6295\u7a3f\u3092X(\u65e7Twitter)\u3067\u300cATP6V1B1\u300d\u300c\u9060\u4f4d\u578b\u814e\u6027\u5c3f\u7d30\u7ba1\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u300d\u300c\u814e\u6027\u5c3f\u7d30\u7ba1\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9 \u96e3\u8074\u300d\u306a\u3069\u306e\u30ad\u30fc\u30ef\u30fc\u30c9\u3067\u63a2\u3057\u307e\u3057\u305f\u304c\u3001\u8a72\u5f53\u3059\u308b\u6295\u7a3f\u306f\u898b\u5f53\u305f\u308a\u307e\u305b\u3093\u3067\u3057\u305f\u3002\u8d85\u5e0c\u5c11\u75be\u60a3\u306e\u305f\u3081\u4e00\u6b21\u60c5\u5831\u304c\u6975\u3081\u3066\u5c11\u306a\u3044\u3053\u3068\u3092\u3054\u4e86\u627f\u306e\u3046\u3048\u3001\u672c\u8a18\u4e8b\u3067\u306fGeneReviews\u30fbGARD(\u7c73\u56fd\u56fd\u7acb\u885b\u751f\u7814\u7a76\u6240)\u30fb\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u30fb\u5b66\u8853\u8ad6\u6587\u306a\u3069\u3001\u56fd\u5185\u5916\u306e\u516c\u7684\u30fb\u5b66\u8853\u60c5\u5831\u3092\u6839\u62e0\u3068\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%A8%E7%AE%A1%E7%90%86_Treatment_Management\"><\/span>\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u6cbb\u7642\u306e\u4e2d\u5fc3\u306f\u3001\u4f53\u5185\u306b\u305f\u307e\u3063\u305f\u9178\u3092\u30a2\u30eb\u30ab\u30ea\u6027\u306e\u85ac\u3067\u4e2d\u548c\u3057\u3001\u9178\u5869\u57fa\u30d0\u30e9\u30f3\u30b9\u3092\u6574\u3048\u308b\u3053\u3068\u3067\u3059\u3002<\/strong>\u76ee\u7684\u3068\u5177\u4f53\u7684\u306a\u5185\u5bb9\u3092\u9806\u306b\u898b\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E3%81%AE%E7%9B%AE%E7%9A%84\"><\/span>\u6cbb\u7642\u306e\u76ee\u7684<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4f53\u5185\u306e\u9178\u5869\u57fa\u30d0\u30e9\u30f3\u30b9\u3092\u6574\u3048\u308b<\/li>\n\n\n\n<li>\u9aa8\u3084\u6210\u9577\u306e\u554f\u984c\u3092\u4e88\u9632\u3059\u308b<\/li>\n\n\n\n<li>\u814e\u6a5f\u80fd\u3092\u5b88\u308b<\/li>\n\n\n\n<li>\u8074\u529b\u3084\u767a\u9054\u306e\u652f\u63f4\u3092\u884c\u3046<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%BB%E3%81%AA%E6%B2%BB%E7%99%82\"><\/span>\u4e3b\u306a\u6cbb\u7642<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30af\u30a8\u30f3\u9178\u30ab\u30ea\u30a6\u30e0(\u4f4e\u30ab\u30ea\u30a6\u30e0\u8840\u75c7\u304c\u3042\u308b\u5834\u5408\u306b\u7b2c\u4e00\u9078\u629e)<\/li>\n\n\n\n<li>\u91cd\u70ad\u9178\u30ca\u30c8\u30ea\u30a6\u30e0(\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u4f75\u7528)<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%94%A8%E9%87%8F%E3%81%AE%E7%9B%AE%E5%AE%89\"><\/span>\u7528\u91cf\u306e\u76ee\u5b89<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e73\u5150\u30fb\u5c0f\u5150:1.9\u301c3.0 mEq\/kg\/\u65e5<\/li>\n\n\n\n<li>\u6210\u4eba:1\u301c2 mEq\/kg\/\u65e5<\/li>\n<\/ul>\n\n\n\n<p>\u5b9f\u969b\u306e\u5185\u670d\u91cf\u306f\u3001\u8840\u6db2\u691c\u67fb\u306e\u7d50\u679c\u3084\u4f53\u683c\u3001\u5e74\u9f62\u306b\u3088\u3063\u3066\u4e3b\u6cbb\u533b\u304c\u500b\u5225\u306b\u8abf\u6574\u3057\u307e\u3059\u3002\u4e0a\u8a18\u306e\u6570\u5024\u306f\u3042\u304f\u307e\u3067\u4e00\u822c\u7684\u306a\u76ee\u5b89\u3068\u3057\u3066\u3054\u53c2\u7167\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E5%AF%BE%E7%AD%96\"><\/span>\u305d\u306e\u4ed6\u306e\u5bfe\u7b56<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6c34\u5206\u3092\u3057\u3063\u304b\u308a\u3068\u308b<\/li>\n\n\n\n<li>\u88dc\u8074\u5668\u3084\u4eba\u5de5\u5185\u8033\u3001\u8a00\u8a9e\u7642\u6cd5\u306b\u3088\u308b\u8074\u529b\u30fb\u767a\u9054\u306e\u652f\u63f4<\/li>\n\n\n\n<li>\u5b9a\u671f\u7684\u306a\u691c\u67fb(\u8840\u6db2\u3001\u5c3f\u3001\u753b\u50cf\u691c\u67fb\u3001\u6210\u9577\u30fb\u8074\u529b\u306e\u30d5\u30a9\u30ed\u30fc)<\/li>\n<\/ul>\n\n\n\n<p>\u81e8\u5e8a\u306e\u73fe\u5834\u3067\u611f\u3058\u308b\u306e\u306f\u3001\u814e\u81d3\u306e\u7ba1\u7406\u306f\u814e\u81d3\u5185\u79d1\u3084\u5c0f\u5150\u79d1\u3001\u8074\u529b\u306e\u652f\u63f4\u306f\u8033\u9f3b\u54bd\u5589\u79d1\u3084\u8a00\u8a9e\u8074\u899a\u58eb\u3068\u3001\u8a3a\u7642\u79d1\u3092\u307e\u305f\u3044\u3060\u9023\u643a\u304c\u5fc5\u8981\u306b\u306a\u308a\u3084\u3059\u3044\u3068\u3044\u3046\u70b9\u3067\u3059\u3002\u3054\u5bb6\u65cf\u304c\u7a93\u53e3\u3092\u4e00\u672c\u5316\u3067\u304d\u305a\u8ca0\u62c5\u3092\u611f\u3058\u308b\u3053\u3068\u3082\u591a\u3044\u305f\u3081\u3001\u304b\u304b\u308a\u3064\u3051\u533b\u306b\u76f8\u8ac7\u3057\u3001\u7a93\u53e3\u3092\u6574\u7406\u3057\u3066\u304a\u3044\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u814e\u81d3\u306e\u5c3f\u7d30\u7ba1\u306b\u7570\u5e38\u304c\u51fa\u308b\u907a\u4f1d\u6027\u75be\u60a3\u3068\u3057\u3066\u306f\u3001\u307b\u304b\u306b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bartter-syndrome-bsnd-type4a\/\">\u30d0\u30fc\u30c1\u30f3\u95a2\u9023Bartter\u75c7\u5019\u7fa4(BSND)<\/a>\u306e\u3088\u3046\u306a\u75c5\u6c17\u3082\u3042\u308a\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3084\u6cbb\u7642\u306e\u8003\u3048\u65b9\u304c\u7570\u306a\u308a\u307e\u3059\u3002\u96e3\u8074\u3078\u306e\u652f\u63f4\u3068\u3044\u3046\u89b3\u70b9\u3067\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/charge-syndrome-chd7-clinical-features-management\/\">CHARGE\u75c7\u5019\u7fa4(CHD7)<\/a>\u306e\u8a18\u4e8b\u3082\u3042\u308f\u305b\u3066\u3054\u89a7\u3044\u305f\u3060\u304f\u3068\u3001\u96e3\u8074\u3092\u4f34\u3046\u907a\u4f1d\u6027\u75be\u60a3\u3078\u306e\u5411\u304d\u5408\u3044\u65b9\u306e\u53c2\u8003\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/metachromatic-leukodystrophy-arsa-overview\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30e1\u30bf\u30af\u30ed\u30de\u30c1\u30c3\u30af\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08\u30a2\u30ea\u30eb\u30b9\u30eb\u30d5\u30a1\u30bf\u30fc\u30bcA\u6b20\u640d\u75c7\uff09\u3010ARSA\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u30e1\u30bf\u30af\u30ed\u30de\u30c1\u30c3\u30af\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08MLD\uff09\u306f\u3001\u307e\u308c\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u539f\u56e0\u30fb\u75c7\u72b6\u30fb\u691c\u67fb\u30fb\u6cbb\u7642\u3092\u5c02\u9580\u7684\u304b\u3064\u3084\u3055\u3057\u304f\u3054\u7d39\u4ecb\u3057\u307e\u3059\u3002\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BA%88%E5%BE%8C_Prognosis\"><\/span>\u4e88\u5f8c | Prognosis<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u65e9\u671f\u306b\u8a3a\u65ad\u3057\u3001\u9069\u5207\u306b\u30a2\u30eb\u30ab\u30ea\u7642\u6cd5\u3092\u7d9a\u3051\u308b\u3053\u3068\u3067\u3001\u826f\u597d\u306a\u6210\u9577\u3068\u9aa8\u306e\u5065\u5eb7\u3092\u7dad\u6301\u3067\u304d\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u307e\u308a\u307e\u3059\u3002<\/strong>\u4e00\u65b9\u3067\u3001\u6cbb\u7642\u3092\u6020\u308b\u3068\u814e\u6a5f\u80fd\u3078\u306e\u5f71\u97ff\u304c\u9577\u671f\u7684\u306b\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u65e9\u671f\u306b\u8a3a\u65ad\u3057\u3001\u9069\u5207\u306b\u6cbb\u7642\u3059\u308c\u3070\u826f\u597d\u306a\u6210\u9577\u3068\u9aa8\u306e\u5065\u5eb7\u304c\u898b\u8fbc\u3081\u307e\u3059<\/li>\n\n\n\n<li>\u6cbb\u7642\u3092\u6020\u308b\u3068\u6162\u6027\u814e\u75be\u60a3(CKD)\u3078\u9032\u884c\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u907a\u4f1d\u5b50\u8a3a\u65ad\u304c\u78ba\u5b9a\u3057\u305f\u60a3\u8005\u3092\u5bfe\u8c61\u3068\u3057\u305f\u8fd1\u5e74\u306e\u7814\u7a76\u3067\u306f\u3001\u9577\u671f\u7684\u306bCKD\u76f8\u5f53\u306e\u814e\u6a5f\u80fd\u4f4e\u4e0b\u304c\u307f\u3089\u308c\u305f\u60a3\u8005\u306e\u5272\u5408\u306f\u5831\u544a\u306b\u3088\u308a3\u301c8\u5272\u3068\u5e45\u304c\u3042\u308a\u307e\u3059(Giglio S, et al. 2021)<\/li>\n\n\n\n<li>\u96e3\u8074\u306f\u9032\u884c\u6027\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u73fe\u5728\u306e\u533b\u5b66\u3067\u306f\u805e\u3053\u3048\u305d\u306e\u3082\u306e\u3092\u5b8c\u5168\u306b\u5143\u3078\u623b\u3059\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u65e9\u671f\u306e\u88dc\u8074\u5668\u30fb\u4eba\u5de5\u5185\u8033\u306e\u5c0e\u5165\u3068\u8a00\u8a9e\u7642\u6cd5\u304c\u767a\u9054\u652f\u63f4\u306e\u4e2d\u5fc3\u306b\u306a\u308a\u307e\u3059<\/li>\n\n\n\n<li>\u670d\u85ac\u3084\u901a\u9662\u306e\u7d99\u7d9a\u304c\u3001\u305d\u306e\u5f8c\u306e\u7d4c\u904e\u306b\u5927\u304d\u306a\u5f71\u97ff\u3092\u4e0e\u3048\u307e\u3059<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%BE%E3%81%A8%E3%82%81_%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8\"><\/span>\u307e\u3068\u3081:\u3054\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>ATP6V1B1\u95a2\u9023\u306e\u9060\u4f4d\u578b\u814e\u6027\u5c3f\u7d30\u7ba1\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u306b\u3064\u3044\u3066\u3001\u91cd\u8981\u306a\u30dd\u30a4\u30f3\u30c8\u3092\u632f\u308a\u8fd4\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001ATP6V1B1\u907a\u4f1d\u5b50\u306e\u4e21\u65b9\u306e\u30b3\u30d4\u30fc\u306b\u5909\u7570\u304c\u3042\u308b\u3053\u3068\u3067\u3001\u814e\u81d3\u3067\u306e\u9178\u6392\u51fa\u3068\u5185\u8033\u306epH\u8abf\u6574\u306e\u4e21\u65b9\u3092\u62c5\u3046V-ATPase\u30dd\u30f3\u30d7\u304c\u50cd\u304b\u306a\u304f\u306a\u308a\u3001\u4ee3\u8b1d\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3068\u611f\u97f3\u6027\u96e3\u8074\u304c\u540c\u6642\u306b\u73fe\u308c\u308b\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u75be\u60a3\u3067\u3059\u3002ATP6V0A4\u3084FOXI1\u306a\u3069\u3001\u4f3c\u305f\u50cd\u304d\u3092\u6301\u3064\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3067\u3082\u8fd1\u3044\u75c5\u614b\u304c\u8d77\u3053\u308a\u307e\u3059\u304c\u3001\u96e3\u8074\u306e\u51fa\u65b9\u3084\u983b\u5ea6\u306b\u306f\u9055\u3044\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30af\u30a8\u30f3\u9178\u30ab\u30ea\u30a6\u30e0\u306a\u3069\u306b\u3088\u308b\u30a2\u30eb\u30ab\u30ea\u7642\u6cd5\u3067\u814e\u81d3\u5074\u306e\u75c7\u72b6\u306f\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3092\u76ee\u6307\u305b\u308b\u4e00\u65b9\u3001\u96e3\u8074\u306b\u306f\u88dc\u8074\u5668\u3084\u4eba\u5de5\u5185\u8033\u3001\u8a00\u8a9e\u7642\u6cd5\u306b\u3088\u308b\u652f\u63f4\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002\u539f\u56e0\u306e\u591a\u304f\u306f\u3054\u4e21\u89aa\u304c\u305d\u308c\u305e\u308c\u4fdd\u56e0\u8005\u3067\u3042\u3063\u305f\u3053\u3068\u306b\u3088\u308b\u3082\u306e\u3067\u3042\u308a\u3001\u598a\u5a20\u4e2d\u306e\u751f\u6d3b\u304c\u539f\u56e0\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u5b50\u8a3a\u65ad\u3068\u3044\u3046\u300c\u540d\u524d\u300d\u304c\u3064\u304f\u3053\u3068\u3067\u3001\u814e\u81d3\u30fb\u8074\u529b\u30fb\u767a\u9054\u305d\u308c\u305e\u308c\u306e\u5c02\u9580\u5bb6\u3068\u9023\u643a\u3057\u305f\u3001\u304a\u5b50\u3055\u3093\u306b\u5408\u3063\u305f\u30b1\u30a2\u306e\u8a08\u753b\u3092\u7acb\u3066\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002\u307e\u305a\u306f\u4e3b\u6cbb\u533b\u3084\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3078\u306e\u76f8\u8ac7\u304b\u3089\u59cb\u3081\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\">NIPT\u306e\u4e88\u7d04\u306f\u3053\u3061\u3089<\/a><\/div>\n\n\n\n<div class=\"wp-block-button is-style-outline is-style-outline--1\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" target=\"_blank\" rel=\"noopener\">LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n<\/div>\n\n\n\n<p>\u304a\u96fb\u8a71\u3067\u306e\u3054\u76f8\u8ac7\u3082\u53d7\u3051\u4ed8\u3051\u3066\u3044\u307e\u3059\u3002<a href=\"tel:0120169629\">0120-169-629<\/a>\u307e\u3067\u304a\u6c17\u8efd\u306b\u304a\u554f\u3044\u5408\u308f\u305b\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F_FAQ\"><\/span>\u3088\u304f\u3042\u308b\u8cea\u554f | FAQ<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"ATP6V1B1%E9%96%A2%E9%80%A3dRTA%E3%81%A8%E3%81%AF%E3%80%81%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>ATP6V1B1\u95a2\u9023dRTA\u3068\u306f\u3001\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>ATP6V1B1\u907a\u4f1d\u5b50\u306e\u4e21\u65b9\u306e\u30b3\u30d4\u30fc\u306b\u5909\u7570\u304c\u3042\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u75be\u60a3\u3067\u3059\u3002\u814e\u81d3\u306e\u5c3f\u7d30\u7ba1\u304c\u9178\u3092\u5c3f\u306b\u3046\u307e\u304f\u6392\u51fa\u3067\u304d\u305a\u4f53\u6db2\u304c\u9178\u6027\u306b\u50be\u304f\u9060\u4f4d\u578b\u814e\u6027\u5c3f\u7d30\u7ba1\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9(dRTA)\u3068\u3001\u4e73\u5e7c\u5150\u671f\u304b\u3089\u306e\u611f\u97f3\u6027\u96e3\u8074\u304c\u540c\u6642\u306b\u73fe\u308c\u307e\u3059\u3002OMIM\u3067\u306fDRTA2\u3068\u3057\u3066\u5206\u985e\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"ATP6V0A4%E3%82%84FOXI1%E3%81%AE%E5%A4%89%E7%95%B0%E3%81%A7%E3%82%82%E5%90%8C%E3%81%98%E7%97%85%E6%B0%97%E3%81%AB%E3%81%AA%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>ATP6V0A4\u3084FOXI1\u306e\u5909\u7570\u3067\u3082\u540c\u3058\u75c5\u6c17\u306b\u306a\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>ATP6V0A4\u30fbFOXI1\u306e\u5909\u7570\u3067\u3082\u4f3c\u305f\u3057\u304f\u307f\u3067\u814e\u81d3\u3068\u96e3\u8074\u306e\u75c7\u72b6\u304c\u8d77\u3053\u308a\u307e\u3059\u304c\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u306f\u5225\u3067\u3059\u3002ATP6V0A4\u306f\u907a\u4f1d\u6027dRTA\u5168\u4f53\u306e\u7d044\u5272\u3092\u5360\u3081\u6700\u3082\u983b\u5ea6\u304c\u9ad8\u304f\u3001\u96e3\u8074\u306e\u51fa\u73fe\u304cATP6V1B1\u3088\u308a\u3084\u3084\u9045\u3044\u50be\u5411\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002WDR72\u3084SLC4A1\u306e\u5909\u7570\u3067\u306f\u96e3\u8074\u3092\u4f34\u308f\u306a\u3044\u30bf\u30a4\u30d7\u306edRTA\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%A9%E3%82%82%E3%81%AB%E3%82%82%E5%90%8C%E3%81%98%E7%97%85%E6%B0%97%E3%81%8C%E8%B5%B7%E3%81%93%E3%82%8B%E5%8F%AF%E8%83%BD%E6%80%A7%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u6b21\u306e\u5b50\u3069\u3082\u306b\u3082\u540c\u3058\u75c5\u6c17\u304c\u8d77\u3053\u308b\u53ef\u80fd\u6027\u306f\u3042\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u305f\u3081\u3001\u3054\u4e21\u89aa\u304c2\u4eba\u3068\u3082ATP6V1B1\u5909\u7570\u306e\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u3001\u6b21\u306e\u304a\u5b50\u3055\u3093\u304c\u540c\u3058\u75c5\u6c17\u306b\u306a\u308b\u78ba\u7387\u306f\u7406\u8ad6\u4e0a4\u5206\u306e1\u3067\u3059\u3002\u4fdd\u56e0\u8005\u3069\u3046\u3057\u306e\u3054\u7d50\u5a5a\u3067\u3082\u5927\u534a\u306e\u304a\u5b50\u3055\u3093\u306f\u767a\u75c7\u3057\u307e\u305b\u3093\u304c\u3001\u6b63\u78ba\u306a\u78ba\u7387\u306f\u3054\u5bb6\u65cf\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u7d50\u679c\u3092\u3082\u3068\u306b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%9B%A3%E8%81%B4%E3%81%AF%E6%B2%BB%E7%99%82%E3%81%A7%E6%B2%BB%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u96e3\u8074\u306f\u6cbb\u7642\u3067\u6cbb\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u73fe\u5728\u306e\u533b\u5b66\u3067\u306f\u3001\u9032\u884c\u3057\u305f\u611f\u97f3\u6027\u96e3\u8074\u305d\u306e\u3082\u306e\u3092\u5b8c\u5168\u306b\u5143\u3078\u623b\u3059\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u65e9\u671f\u306b\u88dc\u8074\u5668\u3084\u4eba\u5de5\u5185\u8033\u3092\u5c0e\u5165\u3057\u3001\u8a00\u8a9e\u7642\u6cd5\u3068\u3042\u308f\u305b\u3066\u8074\u899a\u3084\u767a\u9054\u3092\u652f\u63f4\u3059\u308b\u3053\u3068\u304c\u4e2d\u5fc3\u306b\u306a\u308a\u307e\u3059\u3002\u8074\u529b\u306e\u72b6\u614b\u306f\u5e74\u306b1\u56de\u4ee5\u4e0a\u3092\u76ee\u5b89\u306b\u5b9a\u671f\u7684\u306a\u691c\u67fb\u3067\u7d4c\u904e\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%87%E7%8A%B6%E3%81%8C%E3%81%8D%E3%81%A3%E3%81%8B%E3%81%91%E3%81%A7%E6%B0%97%E3%81%A5%E3%81%8B%E3%82%8C%E3%82%8B%E3%81%93%E3%81%A8%E3%81%8C%E5%A4%9A%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u3069\u306e\u3088\u3046\u306a\u75c7\u72b6\u304c\u304d\u3063\u304b\u3051\u3067\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4f53\u91cd\u304c\u5897\u3048\u306a\u3044\u3001\u7e70\u308a\u8fd4\u3059\u5614\u5410\u3084\u8131\u6c34\u3001\u591a\u5c3f\u3068\u3044\u3063\u305f\u814e\u81d3\u7531\u6765\u306e\u75c7\u72b6\u3067\u53d7\u8a3a\u3057\u3001\u8840\u6db2\u691c\u67fb\u3067\u4ee3\u8b1d\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u304c\u898b\u3064\u304b\u308b\u3053\u3068\u3092\u304d\u3063\u304b\u3051\u306b\u7cbe\u67fb\u304c\u9032\u3080\u30b1\u30fc\u30b9\u304c\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u9006\u306b\u3001\u8074\u529b\u691c\u67fb\u3067\u306e\u96e3\u8074\u306e\u6307\u6458\u304b\u3089\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u9032\u3080\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%B0%86%E6%9D%A5%E3%80%81%E8%85%8E%E8%87%93%E3%81%AE%E6%A9%9F%E8%83%BD%E3%81%AF%E3%81%A9%E3%81%86%E3%81%AA%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u5c06\u6765\u3001\u814e\u81d3\u306e\u6a5f\u80fd\u306f\u3069\u3046\u306a\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u65e9\u671f\u306b\u8a3a\u65ad\u3057\u3066\u30a2\u30eb\u30ab\u30ea\u7642\u6cd5\u3092\u7d99\u7d9a\u3059\u308c\u3070\u3001\u826f\u597d\u306a\u6210\u9577\u3068\u9aa8\u306e\u5065\u5eb7\u3092\u7dad\u6301\u3067\u304d\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u307e\u308a\u307e\u3059\u3002\u4e00\u65b9\u3067\u3001\u907a\u4f1d\u5b50\u8a3a\u65ad\u304c\u78ba\u5b9a\u3057\u305f\u60a3\u8005\u3092\u5bfe\u8c61\u3068\u3057\u305f\u7814\u7a76\u3067\u306f\u3001\u9577\u671f\u7684\u306b\u6162\u6027\u814e\u75be\u60a3(CKD)\u76f8\u5f53\u306e\u814e\u6a5f\u80fd\u4f4e\u4e0b\u304c\u307f\u3089\u308c\u305f\u5272\u5408\u306f\u5831\u544a\u306b\u3088\u308a3\u301c8\u5272\u3068\u5e45\u304c\u3042\u308a\u3001\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u70b9\u306b\u3054\u7559\u610f\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AENIPT%E3%81%A7%E3%81%93%E3%81%AE%E7%97%85%E6%B0%97%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u598a\u5a20\u4e2d\u306eNIPT\u3067\u3053\u306e\u75c5\u6c17\u306f\u308f\u304b\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>21\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u306a\u3069\u3092\u8abf\u3079\u308b\u57fa\u672c\u691c\u67fb\u306e\u5bfe\u8c61\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u307e\u3067\u5bfe\u8c61\u3092\u5e83\u3052\u305f\u62e1\u5927NIPT\u306e\u30d7\u30e9\u30f3\u3067\u306f\u5bfe\u8c61\u306b\u542b\u307e\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5bfe\u5fdc\u7bc4\u56f2\u306f\u691c\u67fb\u65bd\u8a2d\u3084\u30d7\u30e9\u30f3\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002\u6c17\u306b\u306a\u308b\u6240\u898b\u304c\u51fa\u305f\u5834\u5408\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306a\u3069\u306e\u78ba\u5b9a\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\"><\/span>\u5f15\u7528\u6587\u732e\uff5cReferences<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1007\/s40620-021-01032-y\">Giglio, S., Montini, G., Trepiccione, F. <em>et al.<\/em> Distal renal tubular acidosis: a systematic approach from diagnosis to treatment. <em>J Nephrol<\/em> <strong>34<\/strong>, 2073\u20132083 (2021). https:\/\/doi.org\/10.1007\/s40620-021-01032-y<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1007\/s40620-017-0447-1\">Mohebbi, N., Wagner, C.A. Pathophysiology, diagnosis and treatment of inherited distal renal tubular acidosis. <em>J Nephrol<\/em> <strong>31<\/strong>, 511\u2013522 (2018). https:\/\/doi.org\/10.1007\/s40620-017-0447-1<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.2147\/PHMT.S174459\">Watanabe, T. (2018). Improving outcomes for patients with distal renal tubular acidosis: recent advances and challenges ahead. <em>Pediatric Health, Medicine and Therapeutics<\/em>, <em>9<\/em>, 181\u2013190. https:\/\/doi.org\/10.2147\/PHMT.S174459<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/diseases2020071\">Almomani, Ensaf, et al. \u2018Intercalated Cells: More than pH Regulation\u2019. <em>Diseases<\/em>, vol. 2, no. 2, Apr. 2014, pp. 71\u201392. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.3390\/diseases2020071.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/B978-0-12-812534-2.00011-4\">Pyeritz, Reed E. \u2018Renal Tubular Disorders\u2019. <em>Emery and Rimoin\u2019s Principles and Practice of Medical Genetics and Genomics<\/em>, Elsevier, 2023, pp. 115\u201324. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.1016\/B978-0-12-812534-2.00011-4.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39460617\/\">Perez G, Barber GP, Benet-Pages A, Casper J, Clawson H, Diekhans M, Fischer C, Gonzalez JN, Hinrichs AS, Lee CM, Nassar LR, Raney BJ, Speir ML, van Baren MJ, Vaske CJ, Haussler D, Kent WJ, Haeussler M. The UCSC Genome Browser database: 2025 update. Nucleic Acids Res. 2025 Jan 6;53(D1):D1243-D1249. doi: 10.1093\/nar\/gkae974. PMID: 39460617; PMCID: PMC11701590.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK547595\/\" target=\"_blank\" rel=\"noopener\">Bertocchio JP, Genetet S, Walsh SB, Vargas-Poussou R. Hereditary Distal Renal Tubular Acidosis. 2021 Mar 4. In: Adam MP, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/4666\/autosomal-recessive-distal-renal-tubular-acidosis\" target=\"_blank\" rel=\"noopener\">Autosomal recessive distal renal tubular acidosis. Genetic and Rare Diseases Information Center (GARD), National Institutes of Health (NIH).<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.shouman.jp\/disease\/details\/02_12_032\/\" target=\"_blank\" rel=\"noopener\">\u5c3f\u7d30\u7ba1\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9 \u6982\u8981. \u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/23923981\/\" target=\"_blank\" rel=\"noopener\">Ashton EJ, Legrand A, Benoit V, et al. Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies. Kidney Int. 2018. (ATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families, Ren Fail. 2013)<\/a><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89%EF%BD%9CKeywords\"><\/span>\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"has-text-align-center\"><sup><sup>ATP6V1B1, ATPase H+ transporting V1 subunit B1, \u814e\u6027\u5c3f\u7d30\u7ba1\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9, \u9060\u4f4d\u578bRTA, \u611f\u97f3\u6027\u96e3\u8074, \u524d\u5ead\u6c34\u7ba1\u62e1\u5927, \u4ee3\u8b1d\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9, \u4f4e\u30ab\u30ea\u30a6\u30e0\u8840\u75c7, \u30cd\u30d5\u30ed\u30ab\u30eb\u30b7\u30ce\u30fc\u30b7\u30b9, \u814e\u7d50\u77f3, \u9aa8\u8edf\u5316\u75c7, \u304f\u308b\u75c5, ATP6V0A4, SLC4A1, FOXI1, WDR72, AE1, \u30bf\u30a4\u30d7A\u9593\u5728\u7d30\u80de, V-ATPase, \u30a2\u30eb\u30ab\u30ea\u7642\u6cd5, \u6210\u9577\u969c\u5bb3, \u591a\u5c3f, \u4f4e\u30af\u30a8\u30f3\u9178\u5c3f, \u9ad8\u30ab\u30eb\u30b7\u30a6\u30e0\u5c3f, \u91cd\u70ad\u9178\u518d\u5438\u53ce, \u5c3f\u9178\u6027\u5316, \u5185\u30ea\u30f3\u30d1, \u96e3\u8074, \u5185\u8033, \u9178\u5869\u57fa\u5e73\u8861, \u6162\u6027\u814e\u75be\u60a3, \u30a2\u30f3\u30e2\u30cb\u30a6\u30e0\u5869\u8ca0\u8377\u8a66\u9a13, \u30d5\u30ed\u30bb\u30df\u30c9\/\u30d5\u30eb\u30c9\u30ed\u30b3\u30eb\u30c1\u30be\u30f3\u8a66\u9a13, \u907a\u4f1d\u5b50\u691c\u67fb, DRTA2, \u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d, GeneReviews, OMIM<\/sup><\/sup><\/p>\n\n\n\n<!-- \u3042\u3044\u3046\u3048\u304a\u304b\u304d\u304f\u3051\u3053\u3055\u3057\u3059\u305b\u305d\u305f\u3061\u3064\u3066\u3068-->\n\n<script type=\"application\/ld+json\">\n{\n  \"@context\": \"https:\/\/schema.org\",\n  \"@type\": \"WebPage\",\n  \"mainEntity\": {\n    \"@type\": \"MedicalCondition\",\n    \"name\": \"ATP6V1B1\u95a2\u9023 \u9060\u4f4d\u578b\u814e\u6027\u5c3f\u7d30\u7ba1\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3068\u611f\u97f3\u6027\u96e3\u8074\",\n    \"alternateName\": \"ATP6V1B1-related distal renal tubular acidosis with sensorineural hearing loss\",\n    \"identifier\": \"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\",\n    \"description\": \"ATP6V1B1\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u307e\u308c\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3001\u814e\u81d3\u306e\u9178\u6392\u51fa\u6a5f\u80fd\u969c\u5bb3\u3068\u611f\u97f3\u6027\u96e3\u8074\u3092\u7279\u5fb4\u3068\u3057\u307e\u3059\u3002\u4ee3\u8b1d\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3001\u6210\u9577\u969c\u5bb3\u3001\u9aa8\u75be\u60a3\u3001\u814e\u7d50\u77f3\u306a\u3069\u304c\u751f\u3058\u3001\u65e9\u671f\u306e\u8a3a\u65ad\u3068\u6cbb\u7642\u304c\u91cd\u8981\u3067\u3059\u3002\",\n    \"cause\": {\n      \"@type\": \"MedicalCause\",\n      \"name\": \"ATP6V1B1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308bV-ATPase\u6a5f\u80fd\u969c\u5bb3\"\n    },\n    \"possibleTreatment\": {\n      \"@type\": \"MedicalTherapy\",\n      \"name\": \"\u30a2\u30eb\u30ab\u30ea\u88dc\u5145\u7642\u6cd5\uff08\u30af\u30a8\u30f3\u9178\u30ab\u30ea\u30a6\u30e0\u3001\u91cd\u70ad\u9178\u30ca\u30c8\u30ea\u30a6\u30e0\uff09\u3068\u5b9a\u671f\u7684\u306a\u8074\u529b\u7ba1\u7406\"\n    },\n    \"symptom\": [\n      \"\u6210\u9577\u969c\u5bb3\",\n      \"\u591a\u5c3f\",\n      \"\u8131\u6c34\",\n      \"\u304f\u308b\u75c5\u30fb\u9aa8\u8edf\u5316\u75c7\",\n      \"\u814e\u7d50\u77f3\",\n      \"\u611f\u97f3\u6027\u96e3\u8074\"\n    ],\n    \"affectedOrgan\": [\n      \"\u814e\u81d3\",\n      \"\u5185\u8033\"\n    ]\n  },\n  \"headline\": \"ATP6V1B1\u95a2\u9023 \u9060\u4f4d\u578b\u814e\u6027\u5c3f\u7d30\u7ba1\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3068\u96e3\u8074\u3068\u306f\uff1f\u75c7\u72b6\u30fb\u8a3a\u65ad\u30fb\u6cbb\u7642\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\",\n  \"description\": \"ATP6V1B1\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u3001\u814e\u6027\u5c3f\u7d30\u7ba1\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3068\u611f\u97f3\u6027\u96e3\u8074\u306b\u3064\u3044\u3066\u89e3\u8aac\u3002\u75c7\u72b6\u3084\u8a3a\u65ad\u3001\u6cbb\u7642\u6cd5\u3092\u3084\u3055\u3057\u304f\u7d39\u4ecb\u3057\u307e\u3059\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\",\n  \"inLanguage\": \"ja\",\n  \"url\": \"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\",\n  \"datePublished\": \"2025-06-13\",\n  \"author\": {\n    \"@type\": \"Person\",\n    \"name\": \"HUMEDIT Contents Team\"\n  },\n  \"publisher\": {\n    \"@type\": \"Organization\",\n    \"name\": \"\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\",\n    \"url\": \"https:\/\/www.hiro-clinic.or.jp\"\n  }\n}\n<\/script>\n\n\n\n<p style=\"font-size:0.9em;color:#555;\"><strong>\u76e3\u4fee:\u5ca1 \u535a\u53f2(\u304a\u304b \u3072\u308d\u3057)<\/strong>\/\u533b\u7642\u6cd5\u4eba\u793e\u56e3\u798f\u7f8e\u4f1a \u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u7d71\u62ec\u9662\u9577\u30fbLabo Director\u3002\u6176\u61c9\u7fa9\u587e\u5927\u5b66\u533b\u5b66\u90e8\u5352\u696d\u3002\u65e5\u672c\u3068\u30a2\u30e1\u30ea\u30ab\u306e\u533b\u5e2b\u56fd\u5bb6\u8a66\u9a13\u306b\u5408\u683c\u3057\u3001\u533b\u5b66\u535a\u58eb\u3002\u56fd\u5185\u3067\u3082\u6570\u5c11\u306a\u3044\u30e9\u30dc\u30c7\u30a3\u30ec\u30af\u30bf\u30fc\u8cc7\u683c\u3092\u4fdd\u6709\u3002\u8457\u66f8\u300e\u598a\u5a20\u3057\u305f\u3089\u6700\u521d\u306b\u8aad\u3093\u3067\u6b32\u3057\u3044\u672c\u300f\u3002\u672c\u8a18\u4e8b\u306f\u533b\u7642\u5e83\u544a\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u306b\u914d\u616e\u3057\u3001\u516c\u7684\u6a5f\u95a2\u30fb\u5b66\u8853\u8ad6\u6587\u306e\u60c5\u5831\u3092\u53c2\u7167\u3057\u3066\u4f5c\u6210\u3057\u3066\u3044\u307e\u3059\u3002\u8a18\u8f09\u306e\u6570\u5024\u306f\u9650\u3089\u308c\u305f\u75c7\u4f8b\u6570\u306e\u5831\u544a\u4f8b\u306b\u3082\u3068\u3065\u304f\u3082\u306e\u3067\u3042\u308a\u3001\u4eca\u5f8c\u306e\u77e5\u898b\u306b\u3088\u308a\u5909\u308f\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u8a3a\u65ad\u30fb\u6cbb\u7642\u306e\u6700\u7d42\u5224\u65ad\u306f\u62c5\u5f53\u533b\u306b\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<script type=\"application\/ld+json\">\n{\n  \"@context\": \"https:\/\/schema.org\",\n  \"@type\": \"FAQPage\",\n  \"mainEntity\": [\n    {\n      \"@type\": \"Question\",\n      \"name\": \"ATP6V1B1\u95a2\u9023dRTA\u3068\u306f\u3001\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u3067\u3059\u304b\u3002\",\n      \"acceptedAnswer\": {\n        \"@type\": \"Answer\",\n        \"text\": \"ATP6V1B1\u907a\u4f1d\u5b50\u306e\u4e21\u65b9\u306e\u30b3\u30d4\u30fc\u306b\u5909\u7570\u304c\u3042\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u75be\u60a3\u3067\u3059\u3002\u814e\u81d3\u306e\u5c3f\u7d30\u7ba1\u304c\u9178\u3092\u5c3f\u306b\u3046\u307e\u304f\u6392\u51fa\u3067\u304d\u305a\u4f53\u6db2\u304c\u9178\u6027\u306b\u50be\u304f\u9060\u4f4d\u578b\u814e\u6027\u5c3f\u7d30\u7ba1\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9(dRTA)\u3068\u3001\u4e73\u5e7c\u5150\u671f\u304b\u3089\u306e\u611f\u97f3\u6027\u96e3\u8074\u304c\u540c\u6642\u306b\u73fe\u308c\u307e\u3059\u3002OMIM\u3067\u306fDRTA2\u3068\u3057\u3066\u5206\u985e\u3055\u308c\u3066\u3044\u307e\u3059\u3002\"\n      }\n    },\n    {\n      \"@type\": \"Question\",\n      \"name\": \"ATP6V0A4\u3084FOXI1\u306e\u5909\u7570\u3067\u3082\u540c\u3058\u75c5\u6c17\u306b\u306a\u308a\u307e\u3059\u304b\u3002\",\n      \"acceptedAnswer\": {\n        \"@type\": \"Answer\",\n        \"text\": \"ATP6V0A4\u30fbFOXI1\u306e\u5909\u7570\u3067\u3082\u4f3c\u305f\u3057\u304f\u307f\u3067\u814e\u81d3\u3068\u96e3\u8074\u306e\u75c7\u72b6\u304c\u8d77\u3053\u308a\u307e\u3059\u304c\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u306f\u5225\u3067\u3059\u3002ATP6V0A4\u306f\u907a\u4f1d\u6027dRTA\u5168\u4f53\u306e\u7d044\u5272\u3092\u5360\u3081\u6700\u3082\u983b\u5ea6\u304c\u9ad8\u304f\u3001\u96e3\u8074\u306e\u51fa\u73fe\u304cATP6V1B1\u3088\u308a\u3084\u3084\u9045\u3044\u50be\u5411\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002WDR72\u3084SLC4A1\u306e\u5909\u7570\u3067\u306f\u96e3\u8074\u3092\u4f34\u308f\u306a\u3044\u30bf\u30a4\u30d7\u306edRTA\u306b\u306a\u308a\u307e\u3059\u3002\"\n      }\n    },\n    {\n      \"@type\": \"Question\",\n      \"name\": \"\u6b21\u306e\u5b50\u3069\u3082\u306b\u3082\u540c\u3058\u75c5\u6c17\u304c\u8d77\u3053\u308b\u53ef\u80fd\u6027\u306f\u3042\u308a\u307e\u3059\u304b\u3002\",\n      \"acceptedAnswer\": {\n        \"@type\": \"Answer\",\n        \"text\": \"\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u305f\u3081\u3001\u3054\u4e21\u89aa\u304c2\u4eba\u3068\u3082ATP6V1B1\u5909\u7570\u306e\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u3001\u6b21\u306e\u304a\u5b50\u3055\u3093\u304c\u540c\u3058\u75c5\u6c17\u306b\u306a\u308b\u78ba\u7387\u306f\u7406\u8ad6\u4e0a4\u5206\u306e1\u3067\u3059\u3002\u4fdd\u56e0\u8005\u3069\u3046\u3057\u306e\u3054\u7d50\u5a5a\u3067\u3082\u5927\u534a\u306e\u304a\u5b50\u3055\u3093\u306f\u767a\u75c7\u3057\u307e\u305b\u3093\u304c\u3001\u6b63\u78ba\u306a\u78ba\u7387\u306f\u3054\u5bb6\u65cf\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u7d50\u679c\u3092\u3082\u3068\u306b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002\"\n      }\n    },\n    {\n      \"@type\": \"Question\",\n      \"name\": \"\u96e3\u8074\u306f\u6cbb\u7642\u3067\u6cbb\u308a\u307e\u3059\u304b\u3002\",\n      \"acceptedAnswer\": {\n        \"@type\": \"Answer\",\n        \"text\": \"\u73fe\u5728\u306e\u533b\u5b66\u3067\u306f\u3001\u9032\u884c\u3057\u305f\u611f\u97f3\u6027\u96e3\u8074\u305d\u306e\u3082\u306e\u3092\u5b8c\u5168\u306b\u5143\u3078\u623b\u3059\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u65e9\u671f\u306b\u88dc\u8074\u5668\u3084\u4eba\u5de5\u5185\u8033\u3092\u5c0e\u5165\u3057\u3001\u8a00\u8a9e\u7642\u6cd5\u3068\u3042\u308f\u305b\u3066\u8074\u899a\u3084\u767a\u9054\u3092\u652f\u63f4\u3059\u308b\u3053\u3068\u304c\u4e2d\u5fc3\u306b\u306a\u308a\u307e\u3059\u3002\u8074\u529b\u306e\u72b6\u614b\u306f\u5e74\u306b1\u56de\u4ee5\u4e0a\u3092\u76ee\u5b89\u306b\u5b9a\u671f\u7684\u306a\u691c\u67fb\u3067\u7d4c\u904e\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\"\n      }\n    },\n    {\n      \"@type\": \"Question\",\n      \"name\": \"\u3069\u306e\u3088\u3046\u306a\u75c7\u72b6\u304c\u304d\u3063\u304b\u3051\u3067\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304b\u3002\",\n      \"acceptedAnswer\": {\n        \"@type\": \"Answer\",\n        \"text\": \"\u4f53\u91cd\u304c\u5897\u3048\u306a\u3044\u3001\u7e70\u308a\u8fd4\u3059\u5614\u5410\u3084\u8131\u6c34\u3001\u591a\u5c3f\u3068\u3044\u3063\u305f\u814e\u81d3\u7531\u6765\u306e\u75c7\u72b6\u3067\u53d7\u8a3a\u3057\u3001\u8840\u6db2\u691c\u67fb\u3067\u4ee3\u8b1d\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u304c\u898b\u3064\u304b\u308b\u3053\u3068\u3092\u304d\u3063\u304b\u3051\u306b\u7cbe\u67fb\u304c\u9032\u3080\u30b1\u30fc\u30b9\u304c\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u9006\u306b\u3001\u8074\u529b\u691c\u67fb\u3067\u306e\u96e3\u8074\u306e\u6307\u6458\u304b\u3089\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u9032\u3080\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\"\n      }\n    },\n    {\n      \"@type\": \"Question\",\n      \"name\": \"\u5c06\u6765\u3001\u814e\u81d3\u306e\u6a5f\u80fd\u306f\u3069\u3046\u306a\u308a\u307e\u3059\u304b\u3002\",\n      \"acceptedAnswer\": {\n        \"@type\": \"Answer\",\n        \"text\": \"\u65e9\u671f\u306b\u8a3a\u65ad\u3057\u3066\u30a2\u30eb\u30ab\u30ea\u7642\u6cd5\u3092\u7d99\u7d9a\u3059\u308c\u3070\u3001\u826f\u597d\u306a\u6210\u9577\u3068\u9aa8\u306e\u5065\u5eb7\u3092\u7dad\u6301\u3067\u304d\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u307e\u308a\u307e\u3059\u3002\u4e00\u65b9\u3067\u3001\u907a\u4f1d\u5b50\u8a3a\u65ad\u304c\u78ba\u5b9a\u3057\u305f\u60a3\u8005\u3092\u5bfe\u8c61\u3068\u3057\u305f\u7814\u7a76\u3067\u306f\u3001\u9577\u671f\u7684\u306b\u6162\u6027\u814e\u75be\u60a3(CKD)\u76f8\u5f53\u306e\u814e\u6a5f\u80fd\u4f4e\u4e0b\u304c\u307f\u3089\u308c\u305f\u5272\u5408\u306f\u5831\u544a\u306b\u3088\u308a3\u301c8\u5272\u3068\u5e45\u304c\u3042\u308a\u3001\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u70b9\u306b\u3054\u7559\u610f\u304f\u3060\u3055\u3044\u3002\"\n      }\n    },\n    {\n      \"@type\": \"Question\",\n      \"name\": \"\u598a\u5a20\u4e2d\u306eNIPT\u3067\u3053\u306e\u75c5\u6c17\u306f\u308f\u304b\u308a\u307e\u3059\u304b\u3002\",\n      \"acceptedAnswer\": {\n        \"@type\": \"Answer\",\n        \"text\": \"21\u30fb18\u30fb13\u30c8\u30ea\u30bd\u30df\u30fc\u306a\u3069\u3092\u8abf\u3079\u308b\u57fa\u672c\u691c\u67fb\u306e\u5bfe\u8c61\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u307e\u3067\u5bfe\u8c61\u3092\u5e83\u3052\u305f\u62e1\u5927NIPT\u306e\u30d7\u30e9\u30f3\u3067\u306f\u5bfe\u8c61\u306b\u542b\u307e\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5bfe\u5fdc\u7bc4\u56f2\u306f\u691c\u67fb\u65bd\u8a2d\u3084\u30d7\u30e9\u30f3\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002\u6c17\u306b\u306a\u308b\u6240\u898b\u304c\u51fa\u305f\u5834\u5408\u306f\u7f8a\u6c34\u691c\u67fb\u306a\u3069\u306e\u78ba\u5b9a\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002\"\n      }\n    }\n  ]\n}\n<\/script>\n\n\n<p style=\"font-size:0.85em;color:#777;\">\u53c2\u8003\u60c5\u5831:<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK547595\/\" target=\"_blank\" rel=\"noopener\">Hereditary Distal Renal Tubular Acidosis\uff5cGeneReviews(\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928)<\/a>\uff0f<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/4666\/autosomal-recessive-distal-renal-tubular-acidosis\" target=\"_blank\" rel=\"noopener\">Autosomal recessive distal renal tubular acidosis\uff5cGARD(\u7c73\u56fd\u56fd\u7acb\u885b\u751f\u7814\u7a76\u6240)<\/a>\uff0f<a href=\"https:\/\/www.shouman.jp\/disease\/details\/02_12_032\/\" target=\"_blank\" rel=\"noopener\">\u5c3f\u7d30\u7ba1\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9 \u6982\u8981\uff5c\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>\uff0f<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/23923981\/\" target=\"_blank\" rel=\"noopener\">ATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss\uff5cPubMed<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"ATP6V1B1\u907a\u4f1d\u5b50\u5909\u7570\u306b\u3088\u308b\u9060\u4f4d\u578b\u814e\u6027\u5c3f\u7d30\u7ba1\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9(dRTA)\u3068\u611f\u97f3\u6027\u96e3\u8074\u3092\u89e3\u8aac\u3002\u539f\u56e0\u30fb\u75c7\u72b6\u30fb\u691c\u67fb\u30fb\u6cbb\u7642\u3068ATP6V0A4\u7b49\u306e\u985e\u7e01\u907a\u4f1d\u5b50\u3068\u306e\u9055\u3044\u3092GeneReviews\u7b49\u306e\u516c\u7684\u60c5\u5831\u306b\u3082\u3068\u3065\u304d\u7d39\u4ecb\u3057\u307e\u3059\u3002","protected":false},"author":79,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[71],"tags":[],"class_list":["post-101319","post","type-post","status-publish","format-standard","hentry","category-treatise"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/101319","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/79"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=101319"}],"version-history":[{"count":20,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/101319\/revisions"}],"predecessor-version":[{"id":134466,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/101319\/revisions\/134466"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=101319"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=101319"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=101319"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}