{"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":"2026-03-04T11:51:38","modified_gmt":"2026-03-04T02:51:38","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_84 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\/#%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-3\" 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-4\" 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-5\" 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-6\" 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-7\" 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-8\" 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-9\" 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-10\" 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><\/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\/#%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-12\" 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-13\" 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-14\" 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-15\" 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-16\" 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-17\" 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-18\" 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<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>ATP6V1B<\/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>ATP6V1B1\uff08ATPase H+ Transporting V1 Subunit B1\uff09 \u306f\u3001\u30d2\u30c8\u7b2c2\u67d3\u8272\u4f53\u77ed\u8155\u306e2p13.3\u9818\u57df\u306b\u4f4d\u7f6e\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u7d30\u80de\u5185\u5916\u306e\u9178\u6027\u5ea6\uff08pH\uff09\u3092\u8abf\u7bc0\u3059\u308b\u305f\u3081\u306b\u6c34\u7d20\u30a4\u30aa\u30f3\uff08H\u207a\uff09\u3092\u8f38\u9001\u3059\u308b\u30dd\u30f3\u30d7\u3067\u3042\u308b\u3001\u6db2\u80de\u578bH\u207aATP\u30a2\u30fc\u30bc\uff08vacuolar-type H\u207a-ATPase, V-ATPase\uff09\u306e\u4e00\u90e8\u3001\u3059\u306a\u308f\u3061V1\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\u7279\u306b\u814e\u81d3\u306e\u96c6\u5408\u7ba1\u306b\u3042\u308b\u30bf\u30a4\u30d7A\u9593\u5728\u7d30\u80de\u3068\u3001\u5185\u8033\uff08\u306a\u3044\u3058\uff09\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<\/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<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\uff08Distal Renal Tubular Acidosis: dRTA\uff09<br>\u611f\u97f3\u6027\u96e3\u8074\uff08Sensorineural Hearing Loss: SNHL\uff09<\/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>dRTA\u30bf\u30a4\u30d71\u307e\u305f\u306f\u30bf\u30a4\u30d72<\/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<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>\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\u3001\u4f53\u6db2\u304c\u9178\u6027\u306b\u50be\u3044\u3066\u3057\u307e\u3046\u6162\u6027\u7684\u306a\u4ee3\u8b1d\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u52a0\u3048\u3066\u3001\u5185\u8033\u306epH\u74b0\u5883\u304c\u4fdd\u3066\u306a\u304f\u306a\u308b\u3053\u3068\u306b\u3088\u308a\u611f\u97f3\u6027\u96e3\u8074\u304c\u751f\u3058\u308b\u3053\u3068\u304c\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\uff08CKD\uff09\u306a\u3069\u3092\u5f15\u304d\u8d77\u3053\u3059\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\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>\u975e\u5e38\u306b\u307e\u308c\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767a\u75c7\u983b\u5ea6\uff08\u63a8\u5b9a\uff09\uff1a\u7d0460\u4e07\u4eba\u306b1\u4eba<\/li>\n\n\n\n<li>\u4fdd\u56e0\u8005\u306e\u5272\u5408\uff1a\u7d041\u4e075\u5343\u4eba\u306b1\u4eba<\/li>\n<\/ul>\n\n\n\n<p>\u7279\u5b9a\u306e\u5730\u57df\u3067\u306f\u3001\u89aa\u65cf\u9593\u306e\u7d50\u5a5a\u306a\u3069\u306b\u3088\u308a\u983b\u5ea6\u304c\u9ad8\u304f\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u4e16\u754c\u4e2d\u3067\u5831\u544a\u304c\u3042\u308a\u3001\u7279\u306b\u5c0f\u5150\u671f\u306b\u8a3a\u65ad\u3055\u308c\u308b\u30b1\u30fc\u30b9\u304c\u591a\u304f\u898b\u3089\u308c\u307e\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>\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\uff08\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\uff09\u3067\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>\u307e\u305f\u3001\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<\/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>\u4e3b\u306b\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u75c7\u72b6\u304c\u898b\u3089\u308c\u307e\u3059<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6210\u9577\u969c\u5bb3\uff08\u4f53\u91cd\u304c\u5897\u3048\u306a\u3044\u3001\u8eab\u9577\u304c\u4f38\u3073\u306a\u3044\uff09<\/li>\n\n\n\n<li>\u5614\u5410\uff08\u304a\u3046\u3068\uff09\u3001\u8131\u6c34\u3001\u591a\u5c3f<\/li>\n\n\n\n<li>\u4f4e\u30ab\u30ea\u30a6\u30e0\u8840\u75c7\uff08\u8840\u6db2\u4e2d\u306e\u30ab\u30ea\u30a6\u30e0\u4e0d\u8db3\uff09\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\uff08\u9aa8\u306e\u3084\u308f\u3089\u304b\u3055\u3001O\u811a\uff09<\/li>\n\n\n\n<li>\u6210\u4eba\u3067\u306f\u9aa8\u8edf\u5316\u75c7\uff08\u9aa8\u306e\u75db\u307f\u3001\u9aa8\u6298\u3057\u3084\u3059\u3044\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u814e\u7d50\u77f3\u30fb\u814e\u77f3\u7070\u6c88\u7740\uff08\u30cd\u30d5\u30ed\u30ab\u30eb\u30b7\u30ce\u30fc\u30b7\u30b9\uff09<\/li>\n\n\n\n<li>\u611f\u97f3\u6027\u96e3\u8074\uff08\u4e21\u8033\u306b\u8d77\u3053\u308a\u3084\u3059\u304f\u3001\u5c0f\u5150\u671f\u304b\u3089\u9032\u884c\u3059\u308b\uff09\n<ul class=\"wp-block-list\">\n<li>\u524d\u5ead\u6c34\u7ba1\u62e1\u5927\uff08enlarged vestibular aqueduct, EVA\uff09\u304c\u591a\u304f\u306e\u60a3\u8005\u306b\u8a8d\u3081\u3089\u308c\u307e\u3059<\/li>\n<\/ul>\n<\/li>\n<\/ul>\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>\u8840\u6db2\u30fb\u5c3f\u691c\u67fb<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4ee3\u8b1d\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\uff08\u8840\u6db2\u304c\u9178\u6027\u306b\uff09<\/li>\n\n\n\n<li>\u4f4e\u30ab\u30ea\u30a6\u30e0\u8840\u75c7<\/li>\n\n\n\n<li>\u5c3fpH\u304c\u9ad8\u3081\uff08\u5c3f\u304c\u5341\u5206\u306b\u9178\u6027\u5316\u3067\u304d\u3066\u3044\u306a\u3044\uff09<\/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<p>\u6a5f\u80fd\u691c\u67fb<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30d5\u30ed\u30bb\u30df\u30c9\uff0b\u30d5\u30eb\u30c9\u30ed\u30b3\u30eb\u30c1\u30be\u30f3\u8ca0\u8377\u8a66\u9a13\uff08\u5c3f\u9178\u6027\u5316\u80fd\u529b\u3092\u8a55\u4fa1\uff09<\/li>\n\n\n\n<li>\u30a2\u30f3\u30e2\u30cb\u30a6\u30e0\u5869\u8ca0\u8377\u8a66\u9a13\uff08\u73fe\u5728\u306f\u3042\u307e\u308a\u4f7f\u7528\u3055\u308c\u307e\u305b\u3093\uff09<\/li>\n<\/ul>\n\n\n\n<p>\u753b\u50cf\u691c\u67fb<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u814e\u81d3\uff1a\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\uff1aCT\u3084MRI\u3067\u524d\u5ead\u6c34\u7ba1\u62e1\u5927\uff08EVA\uff09\u3092\u78ba\u8a8d<\/li>\n<\/ul>\n\n\n\n<p>\u8074\u529b\u691c\u67fb<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30aa\u30fc\u30b8\u30aa\u30b0\u30e9\u30e0\uff08\u7d14\u97f3\u8074\u529b\u691c\u67fb\uff09<\/li>\n\n\n\n<li>\u8074\u6027\u8133\u5e79\u53cd\u5fdc\uff08ABR\uff09\u306a\u3069<\/li>\n<\/ul>\n\n\n\n<p>\u907a\u4f1d\u5b50\u691c\u67fb<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>ATP6V1B1\u907a\u4f1d\u5b50\u3084\u95a2\u9023\u907a\u4f1d\u5b50\uff08ATP6V0A4\u3001SLC4A1\u306a\u3069\uff09\u306e\u5909\u7570\u3092\u8abf\u3079\u308b<\/li>\n\n\n\n<li>\u8a3a\u65ad\u306e\u78ba\u5b9a\u3001\u5bb6\u65cf\u3078\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u6709\u7528\u3067\u3059<\/li>\n<\/ul>\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<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<\/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\uff08\u4f4e\u30ab\u30ea\u30a6\u30e0\u8840\u75c7\u304c\u3042\u308b\u5834\u5408\u306b\u7b2c\u4e00\u9078\u629e\uff09<\/li>\n\n\n\n<li>\u91cd\u70ad\u9178\u30ca\u30c8\u30ea\u30a6\u30e0\uff08\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u4f75\u7528\uff09<\/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\uff1a1.9\u301c3.0 mEq\/kg\/\u65e5<\/li>\n\n\n\n<li>\u6210\u4eba\uff1a1\u301c2 mEq\/kg\/\u65e5<\/li>\n<\/ul>\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\uff08\u8840\u6db2\u3001\u5c3f\u3001\u753b\u50cf\u691c\u67fb\u3001\u6210\u9577\u30fb\u8074\u529b\u306e\u30d5\u30a9\u30ed\u30fc\uff09<\/li>\n<\/ul>\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<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\u3001\u6162\u6027\u814e\u75be\u60a3\uff08CKD\uff09\u3078\u9032\u884c\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u3001\n<ul class=\"wp-block-list\">\n<li>25\u301c40\uff05\u306e\u60a3\u8005\u3055\u3093\u304c\u5c06\u6765\u7684\u306bCKD\u30b9\u30c6\u30fc\u30b8III\u301cIV\u306b\u9054\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u96e3\u8074\u306f\u9032\u884c\u6027\u304b\u3064\u4e0d\u53ef\u9006\u7684\u3067\u3042\u308a\u3001\u65e9\u671f\u306e\u4ecb\u5165\u304c\u3068\u3066\u3082\u5927\u5207\u3067\u3059<\/li>\n\n\n\n<li>\u670d\u85ac\u3084\u6cbb\u7642\u306e\u7d99\u7d9a\u304c\u4e88\u5f8c\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=\"%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<\/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<\/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","protected":false},"excerpt":{"rendered":"\u3084\u3055\u3057\u3044\u307e\u3068\u3081 \u3053\u306e\u30da\u30fc\u30b8\u3067\u306f\u3001\u300cATP&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","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":19,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/101319\/revisions"}],"predecessor-version":[{"id":125352,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/101319\/revisions\/125352"}],"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}]}}