{"id":101396,"date":"2025-06-16T12:12:37","date_gmt":"2025-06-16T03:12:37","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=101396"},"modified":"2026-07-29T05:47:18","modified_gmt":"2026-07-28T20:47:18","slug":"bartter-syndrome-bsnd-type4a","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/bartter-syndrome-bsnd-type4a\/","title":{"rendered":"\u30d0\u30fc\u30c1\u30f3\u95a2\u9023Bartter\u75c7\u5019\u7fa4\uff08\u30bf\u30a4\u30d7IVa\uff09\u3010BSND\u3011"},"content":{"rendered":"\n<div style=\"height:20px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div style=\"border:solid #e6ecff 0.8rem;background-color:#f9fbff;padding:3% 5%;margin:1rem 0 3rem;\"><h2 style=\"margin-top:1rem;\">\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081<\/h2><p><strong>\u30d0\u30fc\u30bf\u30fc\u75c7\u5019\u7fa44a\u578b\u306f\u3001BSND\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u814e\u81d3\u3067\u306e\u5869\u5206\u518d\u5438\u53ce\u3068\u5185\u8033\u306e\u50cd\u304d\u304c\u540c\u6642\u306b\u59a8\u3052\u3089\u308c\u308b\u3001\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u5e0c\u5c11\u75be\u60a3\u3067\u3059\u3002<\/strong>\u4ed6\u306eBartter\u75c7\u5019\u7fa4\u306e\u30bf\u30a4\u30d7\u3068\u9055\u3044\u3001\u814e\u81d3\u306e\u5869\u5206\u55aa\u5931\u306b\u611f\u97f3\u6027\u96e3\u8074\u304c\u91cd\u306a\u308b\u70b9\u304c\u6700\u5927\u306e\u7279\u5fb4\u3067\u3059\u3002\u598a\u5a20\u4e2d\u306e\u7f8a\u6c34\u904e\u591a\u3084\u65b0\u751f\u5150\u671f\u306e\u8131\u6c34\u304b\u3089\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u96fb\u89e3\u8cea\u88dc\u5145\u30fb\u96e3\u8074\u652f\u63f4\u30fb\u6210\u9577\u7ba1\u7406\u3092\u7d44\u307f\u5408\u308f\u305b\u305f\u9577\u671f\u7684\u306a\u30b1\u30a2\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u306e\u305f\u3081\u6a19\u6e96\u7684\u306aNIPT\uff08\u65b0\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff09\u306e\u5bfe\u8c61\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u539f\u56e0\u3001\u75c7\u72b6\u3001\u691c\u67fb\u3001\u6cbb\u7642\u3001NIPT\u3068\u306e\u95a2\u4fc2\u3001\u76f8\u8ac7\u5148\u307e\u3067\u3092\u533b\u5b66\u7684\u6839\u62e0\u306b\u3082\u3068\u3065\u3044\u3066\u307e\u3068\u3081\u307e\u3057\u305f\u3002<\/p><\/div>\n\n\n\n<div style=\"border:1px solid #7e9cd6;border-radius:8px;background:#f4f8ff;padding:4% 5%;margin:1rem 0 2.5rem;\">\n<p style=\"font-weight:bold;font-size:1.05em;margin-top:0;\">\u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<\/p>\n<ul style=\"margin-bottom:0;\">\n<li>BSND\u907a\u4f1d\u5b50\u3068\u30d0\u30fc\u30c1\u30f3\u305f\u3093\u3071\u304f\u8cea\u306e\u50cd\u304d\u3001\u4ed6\u306eBartter\u75c7\u5019\u7fa4\u30bf\u30a4\u30d7\u3068\u306e\u9055\u3044<\/li>\n<li>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3068\u3044\u3046\u907a\u4f1d\u306e\u4ed5\u7d44\u307f\u3068\u3001\u6b21\u306e\u304a\u5b50\u3055\u3093\u3078\u306e\u5f71\u97ff<\/li>\n<li>\u598a\u5a20\u4e2d\u30fb\u65b0\u751f\u5150\u671f\u30fb\u4e73\u5e7c\u5150\u671f\u3067\u7570\u306a\u308b\u75c7\u72b6\u306e\u73fe\u308c\u65b9<\/li>\n<li>\u8840\u6db2\u691c\u67fb\u30fb\u8074\u529b\u691c\u67fb\u30fb\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u308b\u8a3a\u65ad\u306e\u6d41\u308c<\/li>\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff08\u65b0\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff09\u3067\u5206\u304b\u308b\u3053\u3068\u3068\u5206\u304b\u3089\u306a\u3044\u3053\u3068<\/li>\n<li>\u96fb\u89e3\u8cea\u88dc\u5145\u3001\u96e3\u8074\u652f\u63f4\u3001\u6210\u9577\u652f\u63f4\u3092\u542b\u3080\u6cbb\u7642\u3068\u9577\u671f\u7684\u306a\u898b\u901a\u3057<\/li>\n<\/ul>\n<\/div>\n\n\n\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\" 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bartter-syndrome-bsnd-type4a\/#%E3%83%90%E3%83%BC%E3%82%BF%E3%83%BC%E7%97%87%E5%80%99%E7%BE%A44a%E5%9E%8B%EF%BC%88BSND%EF%BC%89%E3%81%A8%E3%81%AF\" >\u30d0\u30fc\u30bf\u30fc\u75c7\u5019\u7fa44a\u578b\uff08BSND\uff09\u3068\u306f<\/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\/bartter-syndrome-bsnd-type4a\/#%E5%8E%9F%E5%9B%A0%EF%BD%9CBSND%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E3%83%90%E3%83%BC%E3%83%81%E3%83%B3%E3%81%9F%E3%82%93%E3%81%B1%E3%81%8F%E8%B3%AA%E3%81%AE%E3%81%AF%E3%81%9F%E3%82%89%E3%81%8D\" >\u539f\u56e0\uff5cBSND\u907a\u4f1d\u5b50\u3068\u30d0\u30fc\u30c1\u30f3\u305f\u3093\u3071\u304f\u8cea\u306e\u306f\u305f\u3089\u304d<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bartter-syndrome-bsnd-type4a\/#%E7%97%87%E7%8A%B6%EF%BD%9C%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%83%BB%E6%96%B0%E7%94%9F%E5%85%90%E6%9C%9F%E3%81%AB%E8%A6%8B%E3%82%89%E3%82%8C%E3%82%8B%E3%82%B5%E3%82%A4%E3%83%B3\" >\u75c7\u72b6\uff5c\u598a\u5a20\u4e2d\u30fb\u65b0\u751f\u5150\u671f\u306b\u898b\u3089\u308c\u308b\u30b5\u30a4\u30f3<\/a><\/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\/bartter-syndrome-bsnd-type4a\/#%E7%97%87%E7%8A%B6%EF%BD%9C%E4%B9%B3%E5%B9%BC%E5%85%90%E6%9C%9F%E3%83%BB%E5%AD%A6%E7%AB%A5%E6%9C%9F%E3%81%AB%E8%A6%8B%E3%82%89%E3%82%8C%E3%82%8B%E7%89%B9%E5%BE%B4\" >\u75c7\u72b6\uff5c\u4e73\u5e7c\u5150\u671f\u30fb\u5b66\u7ae5\u671f\u306b\u898b\u3089\u308c\u308b\u7279\u5fb4<\/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\/bartter-syndrome-bsnd-type4a\/#%E6%A4%9C%E6%9F%BB%E3%81%A8%E8%A8%BA%E6%96%AD%E3%81%AE%E6%B5%81%E3%82%8C\" >\u691c\u67fb\u3068\u8a3a\u65ad\u306e\u6d41\u308c<\/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\/bartter-syndrome-bsnd-type4a\/#NIPT%EF%BC%88%E6%96%B0%E5%9E%8B%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%EF%BC%89%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\" >NIPT\uff08\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad\uff09\u3068\u306e\u95a2\u4fc2<\/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\/bartter-syndrome-bsnd-type4a\/#%E6%B2%BB%E7%99%82%E3%81%A8%E9%95%B7%E6%9C%9F%E7%AE%A1%E7%90%86\" >\u6cbb\u7642\u3068\u9577\u671f\u7ba1\u7406<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bartter-syndrome-bsnd-type4a\/#%E4%BA%88%E5%BE%8C%E3%81%A8%E7%94%9F%E6%B4%BB%E3%81%AE%E8%A6%8B%E9%80%9A%E3%81%97\" >\u4e88\u5f8c\u3068\u751f\u6d3b\u306e\u898b\u901a\u3057<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bartter-syndrome-bsnd-type4a\/#%E7%9B%B8%E8%AB%87%E3%81%A7%E3%81%8D%E3%82%8B%E7%AA%93%E5%8F%A3%E3%81%A8%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\" >\u76f8\u8ac7\u3067\u304d\u308b\u7a93\u53e3\u3068\u3054\u5bb6\u65cf\u3078\u306e\u30b5\u30dd\u30fc\u30c8<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bartter-syndrome-bsnd-type4a\/#%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E8%A8%80%E8%91%89%E3%81%AE%E8%AA%AC%E6%98%8E%EF%BD%9CHelpful_Terms\" >\u3084\u3055\u3057\u3044\u8a00\u8449\u306e\u8aac\u660e\uff5cHelpful Terms<\/a><\/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\/bartter-syndrome-bsnd-type4a\/#%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\" >\u3088\u304f\u3042\u308b\u8cea\u554f<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bartter-syndrome-bsnd-type4a\/#Q_%E3%83%90%E3%83%BC%E3%82%BF%E3%83%BC%E7%97%87%E5%80%99%E7%BE%A44a%E5%9E%8B%E3%81%AFNIPT%EF%BC%88%E6%96%B0%E5%9E%8B%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%EF%BC%89%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u30d0\u30fc\u30bf\u30fc\u75c7\u5019\u7fa44a\u578b\u306fNIPT\uff08\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad\uff09\u3067\u308f\u304b\u308a\u307e\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bartter-syndrome-bsnd-type4a\/#Q_%E4%BB%96%E3%81%AEBartter%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E4%BD%95%E3%81%8C%E9%81%95%E3%81%84%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u4ed6\u306eBartter\u75c7\u5019\u7fa4\u3068\u4f55\u304c\u9055\u3044\u307e\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bartter-syndrome-bsnd-type4a\/#Q_%E9%A1%95%E6%80%A7%E9%81%BA%E4%BC%9D%E3%81%A8%E6%BD%9C%E6%80%A7%E9%81%BA%E4%BC%9D%E3%81%AE%E9%81%95%E3%81%84%E3%81%AF%E4%BD%95%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u9855\u6027\u907a\u4f1d\u3068\u6f5c\u6027\u907a\u4f1d\u306e\u9055\u3044\u306f\u4f55\u3067\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bartter-syndrome-bsnd-type4a\/#Q_%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%EF%BC%9F\" >Q. \u96e3\u8074\u306f\u6cbb\u7642\u3067\u6cbb\u308a\u307e\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bartter-syndrome-bsnd-type4a\/#Q_%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%A9%E3%82%82%E3%82%82%E5%90%8C%E3%81%98%E7%97%85%E6%B0%97%E3%81%AB%E3%81%AA%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%EF%BC%9F\" >Q. \u6b21\u306e\u5b50\u3069\u3082\u3082\u540c\u3058\u75c5\u6c17\u306b\u306a\u308b\u53ef\u80fd\u6027\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/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\/bartter-syndrome-bsnd-type4a\/#Q_%E6%97%A9%E6%9C%9F%E3%81%AB%E8%A6%8B%E3%81%A4%E3%81%8B%E3%82%8C%E3%81%B0%E6%99%AE%E9%80%9A%E3%81%AE%E7%94%9F%E6%B4%BB%E3%81%8C%E9%80%81%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u65e9\u671f\u306b\u898b\u3064\u304b\u308c\u3070\u666e\u901a\u306e\u751f\u6d3b\u304c\u9001\u308c\u307e\u3059\u304b\uff1f<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bartter-syndrome-bsnd-type4a\/#%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-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bartter-syndrome-bsnd-type4a\/#%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 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%83%90%E3%83%BC%E3%82%BF%E3%83%BC%E7%97%87%E5%80%99%E7%BE%A44a%E5%9E%8B%EF%BC%88BSND%EF%BC%89%E3%81%A8%E3%81%AF\"><\/span>\u30d0\u30fc\u30bf\u30fc\u75c7\u5019\u7fa44a\u578b\uff08BSND\uff09\u3068\u306f<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u30d0\u30fc\u30bf\u30fc\u75c7\u5019\u7fa44a\u578b\u306f\u3001\u814e\u81d3\u306e\u5869\u5206\u518d\u5438\u53ce\u969c\u5bb3\u306b\u52a0\u3048\u3066\u3001\u751f\u307e\u308c\u3064\u304d\u306e\u611f\u97f3\u6027\u96e3\u8074\u3092\u5408\u4f75\u3059\u308b\u70b9\u304c\u6700\u5927\u306e\u7279\u5fb4\u3067\u3059\u3002<\/strong>\u82f1\u8a9e\u3067\u306fBartter Syndrome Type IVa\u3068\u8868\u8a18\u3055\u308c\u3001BSND\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u539f\u56e0\u306e\u305f\u3081\u300cBSND\u95a2\u9023\u30d0\u30fc\u30bf\u30fc\u75c7\u5019\u7fa4\u300d\u3068\u3082\u547c\u3070\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30d0\u30fc\u30bf\u30fc\u75c7\u5019\u7fa4\u81ea\u4f53\u306f\u3001\u814e\u81d3\u306e\u300c\u30d8\u30f3\u30ec\u306e\u30eb\u30fc\u30d7\u300d\u3068\u3044\u3046\u90e8\u5206\u306e\u50cd\u304d\u306b\u7570\u5e38\u304c\u8d77\u3053\u308b\u907a\u4f1d\u6027\u75be\u60a3\u306e\u7dcf\u79f0\u3067\u3059\u3002\u30bf\u30a4\u30d7I\u301cIII\u306f\u5869\u5206\u55aa\u5931\u304c\u4e2d\u5fc3\u75c7\u72b6\u3067\u3059\u304c\u3001\u30bf\u30a4\u30d7IVa\u30fbIVb\u3060\u3051\u306f\u96e3\u8074\u3092\u5408\u4f75\u3057\u307e\u3059\u3002\u3053\u306e\u9055\u3044\u304c\u3001\u4ed6\u306e\u30bf\u30a4\u30d7\u3068\u898b\u5206\u3051\u308b\u3046\u3048\u3067\u306e\u91cd\u8981\u306a\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5225\u540d\u3068\u3057\u3066\u3001\u5e7c\u5c11\u671f\u767a\u75c7\u306eBartter\u75c7\u5019\u7fa4\u306b\u611f\u97f3\u6027\u96e3\u8074\u3092\u4f34\u3046\u578b\uff08infantile Bartter syndrome with sensorineural deafness\uff09\u3084\u3001\u96e3\u8074\u306e\u907a\u4f1d\u5b66\u7684\u5206\u985e\u306b\u3082\u3068\u3065\u304fDFNB73\u3068\u3044\u3046\u8868\u8a18\u3082\u4f7f\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/atp6v1b1-related-rta-hearing-loss\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">ATP6V1B1\u95a2\u9023 \u9060\u4f4d\u578b\u814e\u6027\u5c3f\u7d30\u7ba1\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3068\u611f\u97f3\u6027\u96e3\u8074 <\/div>\n          <div class=\"blog-card-excerpt\">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...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<p>\u814e\u81d3\u306e\u7570\u5e38\u3068\u96e3\u8074\u3092\u5408\u308f\u305b\u6301\u3064\u75be\u60a3\u306f\u4ed6\u306b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u4e0a\u8a18\u306eATP6V1B1\u95a2\u9023\u75be\u60a3\u3082\u305d\u306e\u3072\u3068\u3064\u3067\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3084\u691c\u67fb\u9805\u76ee\u3092\u6bd4\u8f03\u3059\u308b\u3068\u7406\u89e3\u304c\u6df1\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0%EF%BD%9CBSND%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E3%83%90%E3%83%BC%E3%83%81%E3%83%B3%E3%81%9F%E3%82%93%E3%81%B1%E3%81%8F%E8%B3%AA%E3%81%AE%E3%81%AF%E3%81%9F%E3%82%89%E3%81%8D\"><\/span>\u539f\u56e0\uff5cBSND\u907a\u4f1d\u5b50\u3068\u30d0\u30fc\u30c1\u30f3\u305f\u3093\u3071\u304f\u8cea\u306e\u306f\u305f\u3089\u304d<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u539f\u56e0\u306f\u3001\u7b2c1\u67d3\u8272\u4f53p32.3\u9818\u57df\u306b\u3042\u308bBSND\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3067\u3001\u30d0\u30fc\u30c1\u30f3\u3068\u3044\u3046\u305f\u3093\u3071\u304f\u8cea\u304c\u6b63\u3057\u304f\u4f5c\u3089\u308c\u306a\u304f\u306a\u308b\u3053\u3068\u3067\u3059\u3002<\/strong>\u30d0\u30fc\u30c1\u30f3\u306f\u3001ClC-Ka\u30fbClC-Kb\u3068\u3044\u3046\u5869\u5316\u7269\u30a4\u30aa\u30f3\uff08Cl\u207b\uff09\u30c1\u30e3\u30cd\u30eb\u306e\u50cd\u304d\u3092\u52a9\u3051\u308b\u88dc\u52a9\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u3067\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"26\" src=\"\/nipt\/wp-content\/uploads\/2025\/06\/BSND-hgtIdeo_genome_asia_278e1_f81e60-1024x26.png\" alt=\"BSND\u907a\u4f1d\u5b50\u304c\u5b58\u5728\u3059\u308b1\u756a\u67d3\u8272\u4f53p32.3\u9818\u57df\u3092\u793a\u3059\u56f3\" class=\"wp-image-101397\"\/><\/figure><\/div>\n\n\n<p>\u3053\u308c\u3089\u306e\u30c1\u30e3\u30cd\u30eb\u306f\u3001\u814e\u81d3\u306e\u300c\u30d8\u30f3\u30ec\u306e\u30eb\u30fc\u30d7\u592a\u3044\u4e0a\u884c\u811a\u300d\u3068\u3001\u5185\u8033\u306e\u30ab\u30ea\u30a6\u30e0\u5206\u6ccc\u4e0a\u76ae\u306e\u4e21\u65b9\u306b\u5b58\u5728\u3057\u307e\u3059\u3002\u814e\u81d3\u3067\u306f\u5869\u5206\u306e\u518d\u5438\u53ce\u306b\u3001\u5185\u8033\u3067\u306f\u97f3\u3092\u611f\u3058\u53d6\u308b\u305f\u3081\u306e\u5fae\u5f31\u306a\u96fb\u6c17\u4fe1\u53f7\uff08\u5185\u8033\u96fb\u4f4d\uff09\u306e\u7dad\u6301\u306b\u4f7f\u308f\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>BSND\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u3042\u308b\u3068\u3001\u3053\u306e2\u3064\u306e\u30c1\u30e3\u30cd\u30eb\u304c\u6b63\u3057\u3044\u5834\u6240\u306b\u914d\u7f6e\u3055\u308c\u306a\u304f\u306a\u308a\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u814e\u81d3\u3067\u306f\u5869\u5206\u306e\u518d\u5438\u53ce\u969c\u5bb3\u304c\u3001\u5185\u8033\u3067\u306f\u611f\u97f3\u6027\u96e3\u8074\u304c\u540c\u6642\u306b\u8d77\u3053\u308a\u307e\u3059\u30021\u3064\u306e\u907a\u4f1d\u5b50\u5909\u7570\u304c\u3001\u96e2\u308c\u305f2\u3064\u306e\u81d3\u5668\u306b\u5f71\u97ff\u3059\u308b\u70b9\u304c\u7279\u5fb4\u3067\u3059\u3002\u8a73\u3057\u3044\u5206\u5b50\u30e1\u30ab\u30cb\u30ba\u30e0\u306f\u3001\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\u304c\u904b\u55b6\u3059\u308b\u5c02\u9580\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1477\/\" target=\"_blank\" rel=\"noopener\">GeneReviews\u306eBartter\u75c7\u5019\u7fa4\u89e3\u8aac\u30da\u30fc\u30b8<\/a>\u306b\u307e\u3068\u3081\u3089\u308c\u3066\u3044\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%BD%A2%E5%BC%8F%EF%BD%9C%E5%B8%B8%E6%9F%93%E8%89%B2%E4%BD%93%E6%BD%9C%E6%80%A7%E9%81%BA%E4%BC%9D%E3%81%AE%E4%BB%95%E7%B5%84%E3%81%BF\"><\/span>\u907a\u4f1d\u5f62\u5f0f\uff5c\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u4ed5\u7d44\u307f<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u30d0\u30fc\u30bf\u30fc\u75c7\u5019\u7fa44a\u578b\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u75be\u60a3\u3067\u3001\u4e21\u89aa\u306e\u3069\u3061\u3089\u3082\u75c7\u72b6\u304c\u306a\u304f\u3066\u3082\u5b50\u3069\u3082\u306b\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u4ee5\u524d\u4f7f\u308f\u308c\u3066\u3044\u305f\u300c\u512a\u6027\u30fb\u52a3\u6027\u300d\u3068\u3044\u3046\u547c\u3073\u65b9\u306f\u3001\u73fe\u5728\u306f\u300c\u9855\u6027\u30fb\u6f5c\u6027\u300d\u306b\u6539\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6f5c\u6027\u907a\u4f1d\u306e\u75c5\u6c17\u306f\u3001\u7236\u89aa\u30fb\u6bcd\u89aa\u306e\u4e21\u65b9\u304b\u3089\u5909\u7570\u306e\u3042\u308bBSND\u907a\u4f1d\u5b50\u30921\u3064\u305a\u3064\u53d7\u3051\u7d99\u3044\u3060\u3068\u304d\u306b\u767a\u75c7\u3057\u307e\u3059\u3002\u7247\u65b9\u3060\u3051\u53d7\u3051\u7d99\u3044\u3060\u65b9\u306f\u300c\u4fdd\u56e0\u8005\u300d\u3068\u547c\u3070\u308c\u3001\u901a\u5e38\u306f\u7121\u75c7\u72b6\u306e\u307e\u307e\u904e\u3054\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e21\u89aa\u304c\u3068\u3082\u306b\u4fdd\u56e0\u8005\u306e\u5834\u5408\u3001\u6b21\u306e\u598a\u5a20\u3067\u5b50\u3069\u3082\u304c\u767a\u75c7\u3059\u308b\u78ba\u7387\u306f4\u5206\u306e1\u3067\u3059\u3002\u4e21\u89aa\u304c\u8840\u7e01\u95a2\u4fc2\u306b\u3042\u308b\u5834\u5408\uff08\u8fd1\u89aa\u5a5a\uff09\u306f\u3001\u4e21\u65b9\u304c\u540c\u3058\u5909\u7570\u3092\u6301\u3064\u78ba\u7387\u304c\u4e0a\u304c\u308b\u305f\u3081\u3001\u767a\u75c7\u30ea\u30b9\u30af\u3082\u9ad8\u304f\u306a\u308a\u307e\u3059\u3002\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u57fa\u672c\u7684\u306a\u8003\u3048\u65b9\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-recessive-genetics-support\/\">\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u4ed5\u7d44\u307f\u3092\u89e3\u8aac\u3057\u305f\u8a18\u4e8b<\/a>\u3067\u3082\u53d6\u308a\u4e0a\u3052\u3066\u3044\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%EF%BD%9C%E7%99%BA%E7%97%87%E9%A0%BB%E5%BA%A6%E3%81%A8%E5%9C%B0%E5%9F%9F%E5%B7%AE\"><\/span>\u75ab\u5b66\uff5c\u767a\u75c7\u983b\u5ea6\u3068\u5730\u57df\u5dee<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u30d0\u30fc\u30bf\u30fc\u75c7\u5019\u7fa4\u5168\u4f53\u306e\u767a\u75c7\u983b\u5ea6\u306f10\u4e07\u4eba\u306b1\u4eba\u7a0b\u5ea6\u3068\u3055\u308c\u3001\u30bf\u30a4\u30d7IVa\u306f\u305d\u306e\u306a\u304b\u3067\u3082\u3055\u3089\u306b\u307e\u308c\u306a\u90e8\u985e\u306b\u5165\u308a\u307e\u3059\u3002<\/strong>\u7279\u5b9a\u306e\u5730\u57df\u3067\u306f\u3001\u5275\u59cb\u8005\u5909\u7570\u3068\u547c\u3070\u308c\u308b\u7279\u5b9a\u306e\u5909\u7570\u304c\u96c6\u56e3\u5185\u3067\u5e83\u304c\u3063\u3066\u3044\u308b\u5f71\u97ff\u3067\u3001\u983b\u5ea6\u304c\u9ad8\u3081\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4ee3\u8868\u7684\u306a\u4f8b\u306f\u3001\u4e2d\u5357\u7c73\u306e\u30b3\u30b9\u30bf\u30ea\u30ab\u3068\u4e2d\u6771\u306e\u30af\u30a6\u30a7\u30fc\u30c8\u3002\u65e5\u672c\u56fd\u5185\u3067\u306e\u6b63\u78ba\u306a\u767a\u75c7\u983b\u5ea6\u3092\u793a\u3059\u5927\u898f\u6a21\u306a\u7d71\u8a08\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u6307\u5b9a\u96e3\u75c5\u3084\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u306e\u76f8\u8ac7\u7a93\u53e3\u3092\u901a\u3058\u3066\u8a3a\u65ad\u3055\u308c\u308b\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u308c\u306a\u75c5\u6c17\u3060\u304b\u3089\u3053\u305d\u3001\u6b63\u78ba\u306a\u60c5\u5831\u306b\u305f\u3069\u308a\u7740\u304d\u306b\u304f\u3044\u3068\u611f\u3058\u308b\u3054\u5bb6\u65cf\u306f\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u56fd\u969b\u7684\u306a\u5e0c\u5c11\u75be\u60a3\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3067\u3042\u308b<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/89938\" target=\"_blank\" rel=\"noopener\">Orphanet<\/a>\u306b\u306f\u3001\u75c7\u4f8b\u6570\u3084\u8a3a\u65ad\u57fa\u6e96\u306b\u95a2\u3059\u308b\u8a73\u3057\u3044\u60c5\u5831\u304c\u516c\u958b\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%87%E7%8A%B6%EF%BD%9C%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%83%BB%E6%96%B0%E7%94%9F%E5%85%90%E6%9C%9F%E3%81%AB%E8%A6%8B%E3%82%89%E3%82%8C%E3%82%8B%E3%82%B5%E3%82%A4%E3%83%B3\"><\/span>\u75c7\u72b6\uff5c\u598a\u5a20\u4e2d\u30fb\u65b0\u751f\u5150\u671f\u306b\u898b\u3089\u308c\u308b\u30b5\u30a4\u30f3<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u598a\u5a20\u4e2d\u306f\u7f8a\u6c34\u904e\u591a\u3001\u51fa\u751f\u5f8c\u306f\u8131\u6c34\u3084\u4f53\u91cd\u306e\u5897\u3048\u306b\u304f\u3055\u304c\u3001\u30d0\u30fc\u30bf\u30fc\u75c7\u5019\u7fa44a\u578b\u306b\u6c17\u3065\u304f\u6700\u521d\u306e\u304d\u3063\u304b\u3051\u306b\u306a\u308a\u3084\u3059\u3044\u75c7\u72b6\u3067\u3059\u3002<\/strong>\u80ce\u5150\u304c\u5b50\u5bae\u5185\u3067\u5c3f\u3092\u5927\u91cf\u306b\u4f5c\u308b\u305f\u3081\u3001\u598a\u5a2022\u301c28\u9031\u3054\u308d\u304b\u3089\u7f8a\u6c34\u91cf\u304c\u5897\u3048\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7f8a\u6c34\u904e\u591a\u306e\u5f71\u97ff\u3067<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/premature-birth\/\">\u65e9\u7523<\/a>\u306b\u306a\u3063\u305f\u308a\u3001\u51fa\u751f\u4f53\u91cd\u304c\u8efd\u304f\u306a\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u751f\u307e\u308c\u305f\u5f8c\u306f\u3001\u8131\u6c34\u75c7\u72b6\u3084\u4f53\u91cd\u304c\u5897\u3048\u306b\u304f\u3044\u54fa\u4e73\u969c\u5bb3\u3001\u91cd\u5ea6\u306e\u591a\u5c3f\u3001\u96fb\u89e3\u8cea\u306e\u7570\u5e38\uff08\u7279\u306b\u30ab\u30ea\u30a6\u30e0\u3084\u5869\u5316\u7269\u306e\u4e0d\u8db3\uff09\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u3057\u3066\u3001\u4e21\u5074\u6027\u306e\u611f\u97f3\u6027\u96e3\u8074\u3082\u3053\u306e\u6642\u671f\u304b\u3089\u78ba\u8a8d\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3042\u308a\u307e\u3059\u3002\u65b0\u751f\u5150\u8074\u899a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u7570\u5e38\u304c\u6307\u6458\u3055\u308c\u3001\u305d\u306e\u5f8c\u306e\u7cbe\u67fb\u3067\u30d0\u30fc\u30bf\u30fc\u75c7\u5019\u7fa44a\u578b\u3068\u5224\u660e\u3059\u308b\u30b1\u30fc\u30b9\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%87%E7%8A%B6%EF%BD%9C%E4%B9%B3%E5%B9%BC%E5%85%90%E6%9C%9F%E3%83%BB%E5%AD%A6%E7%AB%A5%E6%9C%9F%E3%81%AB%E8%A6%8B%E3%82%89%E3%82%8C%E3%82%8B%E7%89%B9%E5%BE%B4\"><\/span>\u75c7\u72b6\uff5c\u4e73\u5e7c\u5150\u671f\u30fb\u5b66\u7ae5\u671f\u306b\u898b\u3089\u308c\u308b\u7279\u5fb4<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u6210\u9577\u3059\u308b\u306b\u3064\u308c\u3066\u3001\u4f4e\u30ab\u30ea\u30a6\u30e0\u8840\u75c7\u306b\u3088\u308b\u7b4b\u529b\u4f4e\u4e0b\u3084\u3001\u6210\u9577\u306e\u9045\u308c\u304c\u76ee\u7acb\u3064\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002<\/strong>\u6162\u6027\u7684\u306a\u30ab\u30ea\u30a6\u30e0\u4e0d\u8db3\u306f\u3001\u7b4b\u529b\u4f4e\u4e0b\u3084\u3051\u3044\u308c\u3093\u3001\u5410\u304d\u6c17\u306e\u539f\u56e0\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4fbf\u79d8\u3084\u5869\u5206\u3078\u306e\u5f37\u3044\u6b32\u6c42\uff08\u5869\u3092\u6b32\u3057\u304c\u308b\u69d8\u5b50\uff09\u3082\u3088\u304f\u898b\u3089\u308c\u308b\u7279\u5fb4\u3067\u3059\u3002\u7b4b\u7dca\u5f35\u306e\u4f4e\u4e0b\u304b\u3089\u904b\u52d5\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u306b\u306a\u308b\u304a\u5b50\u3055\u3093\u3082\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3068\u304c\u3063\u305f\u3042\u3054\u3084\u5782\u308c\u305f\u53e3\u89d2\u3001\u5927\u304d\u306a\u8033\u3068\u3044\u3063\u305f\u9854\u7acb\u3061\u306e\u7279\u5fb4\u304c\u5831\u544a\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u73fe\u308c\u65b9\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002\u6c17\u306b\u306a\u308b\u75c7\u72b6\u306b\u6c17\u3065\u3044\u305f\u3089\u3001\u81ea\u5df1\u5224\u65ad\u305b\u305a\u5c0f\u5150\u79d1\u3084\u814e\u81d3\u30fb\u5185\u5206\u6ccc\u306e\u5c02\u9580\u533b\u306b\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A4%9C%E6%9F%BB%E3%81%A8%E8%A8%BA%E6%96%AD%E3%81%AE%E6%B5%81%E3%82%8C\"><\/span>\u691c\u67fb\u3068\u8a3a\u65ad\u306e\u6d41\u308c<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u8a3a\u65ad\u306f\u3001\u8840\u6db2\u30fb\u5c3f\u691c\u67fb\u3001\u8074\u529b\u691c\u67fb\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u9032\u3081\u307e\u3059\u3002<\/strong>\u8840\u6db2\u691c\u67fb\u3067\u306f\u3001\u30ab\u30ea\u30a6\u30e0\u5024\u306e\u4f4e\u4e0b\uff08\u901a\u5e383mmol\/L\u672a\u6e80\uff09\u3001\u5869\u5316\u7269\u306e\u4f4e\u4e0b\u3001\u4ee3\u8b1d\u6027\u30a2\u30eb\u30ab\u30ed\u30fc\u30b7\u30b9\u3001\u30ec\u30cb\u30f3\u3084\u30a2\u30eb\u30c9\u30b9\u30c6\u30ed\u30f3\u306e\u4e0a\u6607\u304c\u78ba\u8a8d\u3055\u308c\u307e\u3059\u3002\u5c3f\u691c\u67fb\u3067\u306f\u3001\u30ca\u30c8\u30ea\u30a6\u30e0\u3084\u30ab\u30eb\u30b7\u30a6\u30e0\u306e\u6392\u6cc4\u91cf\u306e\u591a\u3055\u304c\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8074\u529b\u691c\u67fb\u3067\u306f\u3001\u5185\u8033\u306e\u5916\u6709\u6bdb\u7d30\u80de\u306e\u50cd\u304d\u3092\u8abf\u3079\u308bOAE\uff08\u8033\u97f3\u97ff\u653e\u5c04\u691c\u67fb\uff09\u3067\u53cd\u5fdc\u304c\u78ba\u8a8d\u3067\u304d\u305a\u3001BERA\uff08\u8074\u6027\u8133\u5e79\u53cd\u5fdc\uff09\u3084ASSR\uff08\u8074\u6027\u5b9a\u5e38\u53cd\u5fdc\uff09\u3067\u3082\u6ce2\u5f62\u306e\u7570\u5e38\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u78ba\u5b9a\u8a3a\u65ad\u306e\u30ab\u30ae\u3092\u63e1\u308b\u306e\u306f\u3001BSND\u907a\u4f1d\u5b50\u3092\u542b\u3080\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb\u3002\u4f3c\u305f\u75c7\u72b6\u3092\u793a\u3059CLCNKB\u907a\u4f1d\u5b50\u3084SLC12A1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3068\u306e\u9451\u5225\u3082\u540c\u6642\u306b\u8abf\u3079\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u51fa\u751f\u524d\u3067\u3042\u308c\u3070\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3067\u907a\u4f1d\u5b50\u7570\u5e38\u3092\u78ba\u8a8d\u3067\u304d\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"NIPT%EF%BC%88%E6%96%B0%E5%9E%8B%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%EF%BC%89%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\"><\/span>NIPT\uff08\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad\uff09\u3068\u306e\u95a2\u4fc2<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u30d0\u30fc\u30bf\u30fc\u75c7\u5019\u7fa44a\u578b\u306f\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u3067\u3042\u308a\u3001\u67d3\u8272\u4f53\u306e\u6570\u7684\u7570\u5e38\u3092\u8abf\u3079\u308b\u6a19\u6e96\u7684\u306aNIPT\u306e\u5bfe\u8c61\u306b\u306f\u542b\u307e\u308c\u307e\u305b\u3093\u3002<\/strong>NIPT\u306f\u6bcd\u4f53\u306e\u8840\u6db2\u4e2d\u306b\u542b\u307e\u308c\u308b\u80ce\u5150\u7531\u6765\u306eDNA\u65ad\u7247\u3092\u89e3\u6790\u3057\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/edwards-syndrome\/\">18\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u30fb21\u30c8\u30ea\u30bd\u30df\u30fc\u306a\u3069\u306e\u67d3\u8272\u4f53\u306e\u6570\u306e\u5909\u5316\u3092\u975e\u78ba\u5b9a\u7684\u306b\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002BSND\u907a\u4f1d\u5b50\u306e\u4e2d\u306e1\u6587\u5b57\u30ec\u30d9\u30eb\u306e\u5909\u7570\u3092\u8aad\u307f\u53d6\u308b\u4ed5\u7d44\u307f\u306b\u306f\u306a\u3063\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image aligncenter\" style=\"margin:1.5rem auto;\">\n<svg role=\"img\" aria-label=\"\u6a19\u6e96\u7684\u306aNIPT\u306f\u67d3\u8272\u4f53\u306e\u6570\u7684\u7570\u5e38\u3092\u8abf\u3079\u308b\u691c\u67fb\u3067\u3042\u308a\u3001BSND\u95a2\u9023\u30d0\u30fc\u30bf\u30fc\u75c7\u5019\u7fa4\u306e\u3088\u3046\u306a\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u306f\u5bfe\u8c61\u5916\u3067\u3042\u308b\u3053\u3068\u3092\u793a\u3059\u56f3\" viewBox=\"0 0 720 260\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" style=\"max-width:720px;width:100%;height:auto;font-family:sans-serif;\">\n  <rect x=\"0\" y=\"0\" width=\"720\" height=\"260\" fill=\"#f8faff\"\/>\n  <text x=\"360\" y=\"36\" text-anchor=\"middle\" font-size=\"19\" fill=\"#2c3e6b\">NIPT\u3068\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u306e\u691c\u67fb\u7bc4\u56f2\u306e\u9055\u3044<\/text>\n  <rect x=\"60\" y=\"65\" width=\"270\" height=\"150\" rx=\"14\" fill=\"#b9c9f2\"\/>\n  <text x=\"195\" y=\"98\" text-anchor=\"middle\" font-size=\"16\" fill=\"#22315e\">\u6a19\u6e96\u7684\u306aNIPT<\/text>\n  <text x=\"195\" y=\"128\" text-anchor=\"middle\" font-size=\"13\" fill=\"#22315e\">\u6bcd\u4f53\u306e\u8840\u6db2\u3092\u691c\u67fb<\/text>\n  <text x=\"195\" y=\"152\" text-anchor=\"middle\" font-size=\"13\" fill=\"#4a5a8a\">\u67d3\u8272\u4f53\u306e\u6570\u7684\u7570\u5e38\u304c\u5bfe\u8c61<\/text>\n  <text x=\"195\" y=\"176\" text-anchor=\"middle\" font-size=\"13\" fill=\"#4a5a8a\">BSND\u5909\u7570\u306f\u5bfe\u8c61\u5916<\/text>\n  <text x=\"195\" y=\"200\" text-anchor=\"middle\" font-size=\"13\" fill=\"#4a5a8a\">\u975e\u78ba\u5b9a\u7684\u691c\u67fb<\/text>\n  <text x=\"395\" y=\"145\" text-anchor=\"middle\" font-size=\"24\" fill=\"#4a5a8a\">\u2192<\/text>\n  <rect x=\"420\" y=\"65\" width=\"270\" height=\"150\" rx=\"14\" fill=\"#dbe3fa\"\/>\n  <text x=\"555\" y=\"98\" text-anchor=\"middle\" font-size=\"16\" fill=\"#22315e\">\u907a\u4f1d\u5b50\u691c\u67fb\u30fb\u65b0\u751f\u5150\u8074\u899a\u691c\u67fb<\/text>\n  <text x=\"555\" y=\"128\" text-anchor=\"middle\" font-size=\"13\" fill=\"#22315e\">\u51fa\u751f\u524d\u5f8c\u306e\u5c02\u9580\u691c\u67fb<\/text>\n  <text x=\"555\" y=\"152\" text-anchor=\"middle\" font-size=\"13\" fill=\"#4a5a8a\">BSND\u907a\u4f1d\u5b50\u3092\u76f4\u63a5\u89e3\u6790<\/text>\n  <text x=\"555\" y=\"176\" text-anchor=\"middle\" font-size=\"13\" fill=\"#4a5a8a\">\u8074\u529b\u691c\u67fb\u3067\u96e3\u8074\u3092\u78ba\u8a8d<\/text>\n  <text x=\"555\" y=\"200\" text-anchor=\"middle\" font-size=\"13\" fill=\"#4a5a8a\">\u5c02\u9580\u533b\u7642\u6a5f\u95a2\u3067\u5b9f\u65bd<\/text>\n<\/svg>\n<figcaption><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff08\u67d3\u8272\u4f53\u306e\u6570\u7684\u7570\u5e38\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\uff09\u3068\u3001BSND\u907a\u4f1d\u5b50\u3092\u76f4\u63a5\u8abf\u3079\u308b\u691c\u67fb\u306e\u5f79\u5272\u306e\u9055\u3044<\/figcaption>\n<\/figure>\n\n\n\n<p>\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u3001\u57fa\u672c\u691c\u67fb\u306b\u52a0\u3048\u3066\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3200\u7a2e\u4ee5\u4e0a\u3092\u5bfe\u8c61\u3068\u3059\u308b\u62e1\u5f35\u30d7\u30e9\u30f3\u3092\u53d6\u308a\u6271\u3063\u3066\u3044\u307e\u3059\u304c\u3001\u3053\u308c\u306f\u67d3\u8272\u4f53\u306e\u6570\u7684\u7570\u5e38\u3092\u8abf\u3079\u308b\u57fa\u672c\u306eNIPT\u3068\u306f\u5225\u306e\u691c\u67fb\u67a0\u3067\u3059\u3002\u30d0\u30fc\u30bf\u30fc\u75c7\u5019\u7fa44a\u578b\u306e\u3088\u3046\u306a\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u75be\u60a3\u304c\u5bfe\u8c61\u306b\u542b\u307e\u308c\u308b\u304b\u3069\u3046\u304b\u306f\u75be\u60a3\u3054\u3068\u306b\u7570\u306a\u308b\u305f\u3081\u3001\u3054\u5e0c\u671b\u306e\u969b\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u500b\u5225\u306b\u78ba\u8a8d\u3059\u308b\u3053\u3068\u3092\u3054\u6848\u5185\u3057\u3066\u3044\u307e\u3059\u3002\u691c\u67fb\u7d50\u679c\u306e\u89e3\u91c8\u306f\u5fc5\u305a\u62c5\u5f53\u533b\u3068\u4e00\u7dd2\u306b\u9032\u3081\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u73fe\u5834\u3067\u306f\u3001\u300cNIPT\u3067\u96e3\u8074\u306e\u907a\u4f1d\u5b50\u307e\u3067\u5206\u304b\u308b\u306e\u304b\u300d\u3068\u3044\u3046\u3054\u8cea\u554f\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u306e\u691c\u67fb\u53ef\u5426\u306f\u75be\u60a3\u30fb\u691c\u67fb\u30d7\u30e9\u30f3\u3054\u3068\u306b\u7570\u306a\u308b\u305f\u3081\u3001\u305d\u306e\u90fd\u5ea6\u3001\u5bfe\u8c61\u7bc4\u56f2\u3092\u78ba\u8a8d\u3057\u306a\u304c\u3089\u304a\u7b54\u3048\u3059\u308b\u3088\u3046\u306b\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u691c\u67fb<\/th><th>\u5b9f\u65bd\u6642\u671f<\/th><th>\u8abf\u3079\u65b9<\/th><th>\u30d0\u30fc\u30bf\u30fc\u75c7\u5019\u7fa44a\u578b\u3068\u306e\u95a2\u4fc2<\/th><\/tr><\/thead><tbody><tr><td>\u6a19\u6e96\u7684\u306aNIPT<\/td><td>\u598a\u5a20\u4e2d<\/td><td>\u6bcd\u4f53\u8840\u4e2d\u306e\u80ce\u5150\u7531\u6765DNA\u3067\u67d3\u8272\u4f53\u306e\u6570\u3092\u89e3\u6790<\/td><td>\u5bfe\u8c61\u5916\uff08\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u306f\u7bc4\u56f2\u5916\uff09<\/td><\/tr><tr><td>\u62e1\u5f35NIPT\uff08\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u30d7\u30e9\u30f3\uff09<\/td><td>\u598a\u5a20\u4e2d<\/td><td>\u3042\u3089\u304b\u3058\u3081\u9078\u5b9a\u3057\u305f\u907a\u4f1d\u5b50\u7fa4\u3092\u89e3\u6790<\/td><td>\u30d7\u30e9\u30f3\u306e\u5bfe\u8c61\u7bc4\u56f2\u306b\u3088\u308b\u3002\u500b\u5225\u78ba\u8a8d\u304c\u5fc5\u8981<\/td><\/tr><tr><td>\u65b0\u751f\u5150\u8074\u899a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30fb\u907a\u4f1d\u5b50\u691c\u67fb<\/td><td>\u51fa\u751f\u524d\u5f8c<\/td><td>\u8074\u529b\u691c\u67fb\u3068BSND\u907a\u4f1d\u5b50\u306e\u914d\u5217\u89e3\u6790<\/td><td>\u78ba\u5b9a\u8a3a\u65ad\u306e\u6a19\u6e96\u7684\u306a\u624b\u6bb5<\/td><\/tr><\/tbody><\/table><figcaption>NIPT\u3068\u5c02\u9580\u691c\u67fb\u306e\u4f4d\u7f6e\u3065\u3051\u306e\u9055\u3044<\/figcaption><\/figure>\n\n\n\n<div style=\"text-align:center;margin:2em 0;\"><a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\" style=\"display:inline-block;padding:0.8em 2em;background:#5a72c4;color:#fff;border-radius:30px;text-decoration:none;font-weight:bold;\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u306e\u4e88\u7d04\u306f\u3053\u3061\u3089<\/a><\/div>\n\n\n\n<p>\u598a\u5a20\u4e2d\u306eNIPT\u3067\u3069\u3053\u307e\u3067\u306e\u75be\u60a3\u304c\u5206\u304b\u308b\u306e\u304b\u3001\u3042\u3089\u304b\u3058\u3081\u6574\u7406\u3057\u3066\u304a\u304d\u305f\u3044\u65b9\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-intellectual-disability-developmental-disorders-limits\/\">NIPT\u306e\u691c\u67fb\u7bc4\u56f2\u3068\u9650\u754c\u3092\u307e\u3068\u3081\u305f\u8a18\u4e8b<\/a>\u3084\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-down-syndrome-accuracy-positive-predictive-value\/\">NIPT\u306e\u7cbe\u5ea6\u3068\u7684\u4e2d\u7387\u3092\u89e3\u8aac\u3057\u305f\u8a18\u4e8b<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\u3002\u691c\u67fb\u3054\u3068\u306e\u5f97\u610f\u5206\u91ce\u3092\u77e5\u3063\u3066\u304a\u304f\u3068\u3001\u9078\u629e\u306e\u5224\u65ad\u304c\u3057\u3084\u3059\u304f\u306a\u308a\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%E3%81%A8%E9%95%B7%E6%9C%9F%E7%AE%A1%E7%90%86\"><\/span>\u6cbb\u7642\u3068\u9577\u671f\u7ba1\u7406<span class=\"ez-toc-section-end\"><\/span><\/h2>\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%AE%E7%AE%A1%E7%90%86\"><\/span>\u598a\u5a20\u4e2d\u306e\u7ba1\u7406<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7f8a\u6c34\u904e\u591a\u304c\u5f37\u3044\u5834\u5408\u306f\u3001\u7f8a\u6c34\u306e\u91cf\u3092\u6e1b\u3089\u3059\u7f8a\u6c34\u7a7f\u523a\u304c\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u30a4\u30f3\u30c9\u30e1\u30bf\u30b7\u30f3\u306a\u3069\u306eNSAIDs\u3067\u7f8a\u6c34\u91cf\u3092\u8abf\u6574\u3059\u308b\u65b9\u6cd5\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u80ce\u5150\u306e\u52d5\u8108\u7ba1\u306b\u5f71\u97ff\u3059\u308b\u30ea\u30b9\u30af\u304c\u3042\u308b\u305f\u3081\u3001\u5c02\u9580\u533b\u30c1\u30fc\u30e0\u306b\u3088\u308b\u614e\u91cd\u306a\u5224\u65ad\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%87%BA%E7%94%9F%E5%BE%8C%E3%81%AE%E9%9B%BB%E8%A7%A3%E8%B3%AA%E8%A3%9C%E5%85%85%E3%81%A8%E8%96%AC%E7%89%A9%E6%B2%BB%E7%99%82\"><\/span>\u51fa\u751f\u5f8c\u306e\u96fb\u89e3\u8cea\u88dc\u5145\u3068\u85ac\u7269\u6cbb\u7642<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u51fa\u751f\u5f8c\u306f\u3001\u5931\u308f\u308c\u305f\u96fb\u89e3\u8cea\u3092\u88dc\u3046\u3053\u3068\u304c\u6cbb\u7642\u306e\u67f1\u306b\u306a\u308a\u307e\u3059\u3002\u76ee\u5b89\u3068\u3057\u3066\u3001\u5869\u5316\u30ca\u30c8\u30ea\u30a6\u30e0\u306f1\u65e5\u3042\u305f\u308a<strong>5\u301c10mEq\/kg<\/strong>\u3001\u5869\u5316\u30ab\u30ea\u30a6\u30e0\u306f2\u301c5mEq\/kg\u304c\u7528\u3044\u3089\u308c\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u30de\u30b0\u30cd\u30b7\u30a6\u30e0\u3082\u88dc\u5145\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u85ac\u7269\u6cbb\u7642\u3067\u306f\u3001\u30a4\u30f3\u30c9\u30e1\u30bf\u30b7\u30f3\u3084\u30a4\u30d6\u30d7\u30ed\u30d5\u30a7\u30f3\u306a\u3069\u306eNSAIDs\u3067\u814e\u81d3\u306e\u5869\u5206\u55aa\u5931\u3092\u6291\u3048\u3001\u30b9\u30d4\u30ed\u30ce\u30e9\u30af\u30c8\u30f3\u3084\u30a2\u30df\u30ed\u30e9\u30a4\u30c9\u3068\u3044\u3063\u305f\u30ab\u30ea\u30a6\u30e0\u4fdd\u6301\u6027\u5229\u5c3f\u85ac\u3067\u30ab\u30ea\u30a6\u30e0\u306e\u55aa\u5931\u3092\u9632\u304e\u307e\u3059\u3002ACE\u963b\u5bb3\u85ac\u3084ARB\u3092\u4f7f\u3046\u5834\u5408\u306f\u3001\u8840\u5727\u3084\u814e\u6a5f\u80fd\u3092\u78ba\u8a8d\u3057\u306a\u304c\u3089\u614e\u91cd\u306b\u9032\u3081\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%81%B4%E5%8A%9B%E6%94%AF%E6%8F%B4%E3%81%A8%E6%88%90%E9%95%B7%E6%94%AF%E6%8F%B4\"><\/span>\u8074\u529b\u652f\u63f4\u3068\u6210\u9577\u652f\u63f4<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u96e3\u8074\u306b\u5bfe\u3059\u308b\u4e3b\u306a\u9078\u629e\u80a2\u306f\u3001\u88dc\u8074\u5668\u3068\u4eba\u5de5\u5185\u8033\u3002\u8a00\u8a9e\u7642\u6cd5\u3084\u4f5c\u696d\u7642\u6cd5\u306b\u3088\u308b\u65e9\u671f\u306e\u652f\u63f4\u306f\u3001\u305d\u306e\u5f8c\u306e\u8a00\u8449\u306e\u767a\u9054\u306b\u5927\u304d\u304f\u95a2\u308f\u308a\u307e\u3059\u3002\u65e9\u3081\u306b\u5c02\u9580\u6a5f\u95a2\u3078\u3064\u306a\u3044\u3067\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u4f4e\u8eab\u9577\u304c\u7d9a\u304d\u3001\u6210\u9577\u30db\u30eb\u30e2\u30f3\u306e\u4e0d\u8db3\u304c\u78ba\u8a8d\u3055\u308c\u305f\u5834\u5408\u306f\u3001\u6210\u9577\u30db\u30eb\u30e2\u30f3\u7642\u6cd5\u304c\u9078\u629e\u80a2\u306b\u306a\u308a\u307e\u3059\u3002\u6cbb\u7642\u306e\u7d44\u307f\u5408\u308f\u305b\u306f\u3001\u814e\u81d3\u5185\u79d1\u30fb\u5185\u5206\u6ccc\u79d1\u30fb\u8033\u9f3b\u54bd\u5589\u79d1\u306a\u3069\u8907\u6570\u306e\u8a3a\u7642\u79d1\u306e\u9023\u643a\u306b\u3088\u3063\u3066\u6c7a\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BA%88%E5%BE%8C%E3%81%A8%E7%94%9F%E6%B4%BB%E3%81%AE%E8%A6%8B%E9%80%9A%E3%81%97\"><\/span>\u4e88\u5f8c\u3068\u751f\u6d3b\u306e\u898b\u901a\u3057<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u8074\u529b\u969c\u5bb3\u306f\u57fa\u672c\u7684\u306b\u4e0d\u53ef\u9006\u3067\u3059\u304c\u3001\u65e9\u671f\u306e\u88dc\u8074\u5668\u3084\u7642\u80b2\u306b\u3088\u3063\u3066\u8a00\u8a9e\u767a\u9054\u3084\u751f\u6d3b\u306e\u8cea\u306f\u5927\u304d\u304f\u6539\u5584\u3057\u307e\u3059\u3002<\/strong>\u4e00\u65b9\u3001\u814e\u6a5f\u80fd\u306b\u3064\u3044\u3066\u306f\u6162\u6027\u814e\u75be\u60a3\uff08CKD\uff09\u306b\u9032\u884c\u3059\u308b\u30ea\u30b9\u30af\u304c\u3042\u308a\u3001\u30bf\u30a4\u30d7IVa\u3067\u306f\u7279\u306b\u6ce8\u610f\u6df1\u3044\u7d4c\u904e\u89b3\u5bdf\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6210\u9577\u30db\u30eb\u30e2\u30f3\u6cbb\u7642\u3084\u96fb\u89e3\u8cea\u7ba1\u7406\u3092\u7d9a\u3051\u308b\u3053\u3068\u3067\u3001\u591a\u304f\u306e\u304a\u5b50\u3055\u3093\u304c\u8eab\u9577\u3092\u4f38\u3070\u305b\u307e\u3059\u304c\u3001\u5831\u544a\u306b\u3088\u308b\u3068\u7d0440%\u306e\u60a3\u8005\u3055\u3093\u3067\u4f4e\u8eab\u9577\u304c\u6301\u7d9a\u3059\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u5341\u5206\u306a\u6cbb\u7642\u3068\u5b9a\u671f\u7684\u306a\u901a\u9662\u3092\u7d9a\u3051\u3089\u308c\u308c\u3070\u3001\u901a\u5e38\u306b\u8fd1\u3044\u751f\u6d3b\u3092\u9001\u308c\u308b\u65b9\u304c\u591a\u304f\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u81ea\u8eab\u3001\u8a3a\u7642\u306e\u4e2d\u3067\u3001\u96e3\u8074\u304c\u3042\u3063\u3066\u3082\u88dc\u8074\u5668\u3084\u624b\u8a71\u3001\u5468\u56f2\u306e\u30b5\u30dd\u30fc\u30c8\u3092\u7d44\u307f\u5408\u308f\u305b\u306a\u304c\u3089\u5b66\u6821\u751f\u6d3b\u3092\u9001\u308b\u304a\u5b50\u3055\u3093\u306e\u59ff\u3092\u898b\u3066\u304d\u307e\u3057\u305f\u3002\u8a3a\u65ad\u540d\u3060\u3051\u3067\u5c06\u6765\u3092\u601d\u3044\u60a9\u307e\u305a\u3001\u533b\u7642\u30c1\u30fc\u30e0\u3068\u4e8c\u4eba\u4e09\u811a\u3067\u6b69\u3093\u3067\u3044\u304f\u75c5\u6c17\u3060\u3068\u6349\u3048\u3066\u3044\u305f\u3060\u3051\u308c\u3070\u3068\u601d\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"text-align:center;margin:2em 0;\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" target=\"_blank\" rel=\"noopener\" style=\"display:inline-block;padding:0.8em 2em;background:#5a72c4;color:#fff;border-radius:30px;text-decoration:none;font-weight:bold;\">\u598a\u5a20\u4e2d\u306e\u4e0d\u5b89\u3092LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%9B%B8%E8%AB%87%E3%81%A7%E3%81%8D%E3%82%8B%E7%AA%93%E5%8F%A3%E3%81%A8%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\"><\/span>\u76f8\u8ac7\u3067\u304d\u308b\u7a93\u53e3\u3068\u3054\u5bb6\u65cf\u3078\u306e\u30b5\u30dd\u30fc\u30c8<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u307e\u308c\u306a\u75c5\u6c17\u3067\u3042\u3063\u3066\u3082\u3001\u516c\u7684\u306a\u76f8\u8ac7\u7a93\u53e3\u3084\u4fe1\u983c\u3067\u304d\u308b\u60c5\u5831\u6e90\u304c\u8907\u6570\u6574\u3063\u3066\u3044\u307e\u3059\u3002<\/strong>\u75be\u60a3\u306e\u907a\u4f1d\u5b66\u7684\u306a\u8a73\u7d30\u306f\u3001\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u3092\u5206\u304b\u308a\u3084\u3059\u304f\u307e\u3068\u3081\u305f<a href=\"https:\/\/medlineplus.gov\/genetics\/gene\/bsnd\/\" target=\"_blank\" rel=\"noopener\">MedlinePlus Genetics\u306eBSND\u907a\u4f1d\u5b50\u30da\u30fc\u30b8<\/a>\u3084\u3001<a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/bartter-syndrome\/\" target=\"_blank\" rel=\"noopener\">Bartter\u75c7\u5019\u7fa4\u306e\u89e3\u8aac\u30da\u30fc\u30b8<\/a>\u3067\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u7642\u306e\u6a19\u6e96\u7684\u306a\u8003\u3048\u65b9\u306b\u3064\u3044\u3066\u306f\u3001\u6b27\u5dde\u306e\u5e0c\u5c11\u814e\u75be\u60a3\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u304c\u307e\u3068\u3081\u305f<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/33509356\/\" target=\"_blank\" rel=\"noopener\">Bartter\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u30fb\u7ba1\u7406\u306b\u95a2\u3059\u308b\u56fd\u969b\u30b3\u30f3\u30bb\u30f3\u30b5\u30b9<\/a>\u304c\u533b\u7642\u8005\u5411\u3051\u306b\u516c\u958b\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u56fd\u5185\u3067\u76f8\u8ac7\u5148\u3092\u63a2\u3059\u969b\u306f\u3001\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u306a\u3069\u306e\u516c\u7684\u6a5f\u95a2\u306e\u7a93\u53e3\u3082\u6d3b\u7528\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u6b21\u306e\u598a\u5a20\u3092\u8003\u3048\u308b\u969b\u306f\u3001\u4e21\u89aa\u304c\u4fdd\u56e0\u8005\u304b\u3069\u3046\u304b\u3092\u78ba\u8a8d\u3059\u308b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u52a9\u3051\u306b\u306a\u308a\u307e\u3059\u3002\u540c\u3058\u7acb\u5834\u306e\u3054\u5bb6\u65cf\u3068\u3064\u306a\u304c\u308b\u60a3\u8005\u4f1a\u3084\u3001\u5730\u57df\u306e\u4fdd\u5065\u30bb\u30f3\u30bf\u30fc\u3082\u8eab\u8fd1\u306a\u76f8\u8ac7\u5148\u3067\u3059\u3002\u3072\u3068\u308a\u3067\u62b1\u3048\u8fbc\u307e\u305a\u3001\u533b\u7642\u30fb\u5236\u5ea6\u30fb\u4ef2\u9593\u3068\u3044\u30463\u3064\u306e\u652f\u3048\u3092\u983c\u3063\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/jacobsen\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30e4\u30b3\u30d6\u30bb\u30f3\u75c7\u5019\u7fa4\u00a0(Jacobsen syndrome)\u306b\u3064\u3044\u3066 <\/div>\n          <div class=\"blog-card-excerpt\">\u30e4\u30b3\u30d6\u30bb\u30f3\u75c7\u5019\u7fa4\uff08Jacobsen syndrome\uff09\u306f\u300111\u756a\u67d3\u8272\u4f53\u9577\u8155\u306e\u4e00\u90e8\u6b20\u5931\u306b\u3088\u308b\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001\u767a\u75c7\u539f\u56e0\u3001\u75c7\u72b6\u3001...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E8%A8%80%E8%91%89%E3%81%AE%E8%AA%AC%E6%98%8E%EF%BD%9CHelpful_Terms\"><\/span>\u3084\u3055\u3057\u3044\u8a00\u8449\u306e\u8aac\u660e\uff5cHelpful Terms<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5c02\u9580\u7528\u8a9e\u304c\u591a\u3044\u75c5\u6c17\u3060\u304b\u3089\u3053\u305d\u3001\u5e73\u6613\u306a\u8a00\u3044\u63db\u3048\u3092\u6dfb\u3048\u307e\u3057\u305f\u3002\u8a3a\u5bdf\u306e\u969b\u306e\u8cea\u554f\u3065\u304f\u308a\u306b\u3082\u5f79\u7acb\u3066\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>BSND\u907a\u4f1d\u5b50\uff1a\u814e\u81d3\u3068\u5185\u8033\u3067\u4f7f\u308f\u308c\u308b\u300c\u30d0\u30fc\u30c1\u30f3\u300d\u3092\u4f5c\u308b\u305f\u3081\u306e\u8a2d\u8a08\u56f3\u3068\u306a\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n<li>\u30d0\u30fc\u30c1\u30f3\uff1a\u5869\u5206\u306e\u901a\u308a\u9053\uff08\u30c1\u30e3\u30cd\u30eb\uff09\u3092\u52a9\u3051\u308b\u305f\u3093\u3071\u304f\u8cea\u3067\u3001\u814e\u81d3\u3068\u5185\u8033\u306e\u50cd\u304d\u306b\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/li>\n<li>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\uff1a\u4e21\u89aa\u53cc\u65b9\u304b\u3089\u5909\u7570\u306e\u3042\u308b\u907a\u4f1d\u5b50\u3092\u53d7\u3051\u7d99\u3044\u3060\u3068\u304d\u306b\u767a\u75c7\u3059\u308b\u907a\u4f1d\u306e\u5f62\u5f0f\u3067\u3059\u3002<\/li>\n<li>\u5869\u5206\u55aa\u5931\u6027\u5c3f\u7d30\u7ba1\u969c\u5bb3\uff1a\u814e\u81d3\u306e\u969c\u5bb3\u306b\u3088\u3063\u3066\u3001\u5fc5\u8981\u306a\u5869\u5206\u3084\u6c34\u5206\u304c\u5c3f\u3068\u4e00\u7dd2\u306b\u51fa\u3066\u3057\u307e\u3046\u75c5\u6c17\u306e\u7dcf\u79f0\u3067\u3059\u3002<\/li>\n<li>\u611f\u97f3\u6027\u96e3\u8074\uff1a\u5185\u8033\u3084\u8074\u795e\u7d4c\u306e\u50cd\u304d\u304c\u5f31\u3044\u305f\u3081\u306b\u8d77\u3053\u308b\u96e3\u8074\u3067\u3001\u97f3\u3084\u8a00\u8449\u304c\u805e\u304d\u53d6\u308a\u306b\u304f\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n<li>\u7f8a\u6c34\u904e\u591a\uff1a\u80ce\u5150\u306e\u5c3f\u91cf\u304c\u591a\u304f\u306a\u308a\u3001\u7f8a\u6c34\u306e\u91cf\u304c\u5897\u3048\u3059\u304e\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n<li>\u4f4e\u30ab\u30ea\u30a6\u30e0\u8840\u75c7\uff1a\u8840\u6db2\u4e2d\u306e\u30ab\u30ea\u30a6\u30e0\u304c\u4e0d\u8db3\u3057\u305f\u72b6\u614b\u3067\u3001\u7b4b\u529b\u4f4e\u4e0b\u3084\u3051\u3044\u308c\u3093\u306e\u539f\u56e0\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<li>\u4ee3\u8b1d\u6027\u30a2\u30eb\u30ab\u30ed\u30fc\u30b7\u30b9\uff1a\u4f53\u306e\u9178\u3068\u30a2\u30eb\u30ab\u30ea\u306e\u30d0\u30e9\u30f3\u30b9\u304c\u30a2\u30eb\u30ab\u30ea\u5074\u306b\u50be\u3044\u305f\u72b6\u614b\u3067\u3059\u3002<\/li>\n<li>\u30cd\u30d5\u30ed\u30ab\u30eb\u30b7\u30ce\u30fc\u30b7\u30b9\uff1a\u814e\u81d3\u306b\u30ab\u30eb\u30b7\u30a6\u30e0\u304c\u305f\u307e\u308a\u3001\u77f3\u306e\u3088\u3046\u306b\u786c\u304f\u306a\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n<li>OAE\u30fbBERA\u30fbASSR\uff1a\u3044\u305a\u308c\u3082\u8d64\u3061\u3083\u3093\u3067\u3082\u53d7\u3051\u3089\u308c\u308b\u8074\u529b\u691c\u67fb\u3067\u3001\u5185\u8033\u3084\u8133\u3078\u306e\u97f3\u306e\u4f1d\u308f\u308a\u65b9\u3092\u8abf\u3079\u307e\u3059\u3002<\/li>\n<li>\u88dc\u8074\u5668\u30fb\u4eba\u5de5\u5185\u8033\uff1a\u97f3\u3092\u5927\u304d\u304f\u3057\u305f\u308a\u3001\u5185\u8033\u306b\u76f4\u63a5\u96fb\u6c17\u4fe1\u53f7\u3092\u9001\u3063\u305f\u308a\u3057\u3066\u805e\u3053\u3048\u3092\u52a9\u3051\u308b\u88c5\u7f6e\u3067\u3059\u3002<\/li>\n<li>\u6162\u6027\u814e\u75be\u60a3\uff08CKD\uff09\uff1a\u814e\u81d3\u306e\u50cd\u304d\u304c\u5c11\u3057\u305a\u3064\u4f4e\u4e0b\u3057\u3066\u3044\u304f\u75c5\u6c17\u3067\u3001\u5b9a\u671f\u7684\u306a\u7d4c\u904e\u89b3\u5bdf\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\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\"><\/span>\u3088\u304f\u3042\u308b\u8cea\u554f<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E3%83%90%E3%83%BC%E3%82%BF%E3%83%BC%E7%97%87%E5%80%99%E7%BE%A44a%E5%9E%8B%E3%81%AFNIPT%EF%BC%88%E6%96%B0%E5%9E%8B%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%EF%BC%89%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u30d0\u30fc\u30bf\u30fc\u75c7\u5019\u7fa44a\u578b\u306fNIPT\uff08\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad\uff09\u3067\u308f\u304b\u308a\u307e\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6a19\u6e96\u7684\u306aNIPT\u306f\u67d3\u8272\u4f53\u306e\u6570\u7684\u7570\u5e38\u3092\u8abf\u3079\u308b\u691c\u67fb\u3067\u3042\u308a\u3001BSND\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u76f4\u63a5\u8abf\u3079\u308b\u4ed5\u7d44\u307f\u306b\u306f\u306a\u3063\u3066\u3044\u307e\u305b\u3093\u3002\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u306e\u305f\u3081\u3001\u5bfe\u8c61\u306b\u306a\u308b\u304b\u306f\u62e1\u5f35\u30d7\u30e9\u30f3\u3054\u3068\u306b\u7570\u306a\u308a\u3001\u500b\u5225\u306e\u78ba\u8a8d\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E4%BB%96%E3%81%AEBartter%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E4%BD%95%E3%81%8C%E9%81%95%E3%81%84%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u4ed6\u306eBartter\u75c7\u5019\u7fa4\u3068\u4f55\u304c\u9055\u3044\u307e\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30bf\u30a4\u30d7I\u301cIII\u306f\u814e\u81d3\u306e\u5869\u5206\u55aa\u5931\u304c\u4e2d\u5fc3\u3067\u96e3\u8074\u306f\u4f34\u3044\u307e\u305b\u3093\u3002\u30bf\u30a4\u30d7IVa\u30fbIVb\u306fBSND\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u3001\u5869\u5206\u55aa\u5931\u3068\u611f\u97f3\u6027\u96e3\u8074\u304c\u540c\u6642\u306b\u8d77\u3053\u308b\u70b9\u3067\u533a\u5225\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E9%A1%95%E6%80%A7%E9%81%BA%E4%BC%9D%E3%81%A8%E6%BD%9C%E6%80%A7%E9%81%BA%E4%BC%9D%E3%81%AE%E9%81%95%E3%81%84%E3%81%AF%E4%BD%95%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u9855\u6027\u907a\u4f1d\u3068\u6f5c\u6027\u907a\u4f1d\u306e\u9055\u3044\u306f\u4f55\u3067\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6f5c\u6027\u907a\u4f1d\u306e\u75c5\u6c17\u306f\u3001\u4e21\u89aa\u305d\u308c\u305e\u308c\u304b\u3089\u5909\u7570\u306e\u3042\u308b\u907a\u4f1d\u5b50\u30921\u3064\u305a\u3064\u53d7\u3051\u7d99\u3044\u3060\u5834\u5408\u306b\u306e\u307f\u767a\u75c7\u3057\u307e\u3059\u3002\u7247\u65b9\u3060\u3051\u53d7\u3051\u7d99\u3044\u3060\u65b9\uff08\u4fdd\u56e0\u8005\uff09\u306f\u901a\u5e38\u7121\u75c7\u72b6\u3067\u3059\u3002\u30d0\u30fc\u30bf\u30fc\u75c7\u5019\u7fa44a\u578b\u306f\u3053\u306e\u6f5c\u6027\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%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%EF%BC%9F\"><\/span><strong>Q. \u96e3\u8074\u306f\u6cbb\u7642\u3067\u6cbb\u308a\u307e\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u611f\u97f3\u6027\u96e3\u8074\u305d\u306e\u3082\u306e\u306f\u57fa\u672c\u7684\u306b\u4e0d\u53ef\u9006\u3067\u3059\u3002\u88dc\u8074\u5668\u3084\u4eba\u5de5\u5185\u8033\u3001\u8a00\u8a9e\u7642\u6cd5\u3092\u65e9\u671f\u306b\u53d6\u308a\u5165\u308c\u308b\u3053\u3068\u3067\u3001\u8a00\u8449\u306e\u767a\u9054\u3084\u751f\u6d3b\u306e\u8cea\u3092\u5927\u304d\u304f\u6539\u5584\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%A9%E3%82%82%E3%82%82%E5%90%8C%E3%81%98%E7%97%85%E6%B0%97%E3%81%AB%E3%81%AA%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%EF%BC%9F\"><\/span><strong>Q. \u6b21\u306e\u5b50\u3069\u3082\u3082\u540c\u3058\u75c5\u6c17\u306b\u306a\u308b\u53ef\u80fd\u6027\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e21\u89aa\u304c\u3068\u3082\u306b\u4fdd\u56e0\u8005\u306e\u5834\u5408\u3001\u6b21\u306e\u598a\u5a20\u3067\u5b50\u3069\u3082\u304c\u767a\u75c7\u3059\u308b\u78ba\u7387\u306f4\u5206\u306e1\u3067\u3059\u3002\u6b63\u78ba\u306a\u78ba\u7387\u3084\u691c\u67fb\u306e\u9078\u629e\u80a2\u306b\u3064\u3044\u3066\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u62c5\u5f53\u533b\u306b\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E6%97%A9%E6%9C%9F%E3%81%AB%E8%A6%8B%E3%81%A4%E3%81%8B%E3%82%8C%E3%81%B0%E6%99%AE%E9%80%9A%E3%81%AE%E7%94%9F%E6%B4%BB%E3%81%8C%E9%80%81%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u65e9\u671f\u306b\u898b\u3064\u304b\u308c\u3070\u666e\u901a\u306e\u751f\u6d3b\u304c\u9001\u308c\u307e\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u96fb\u89e3\u8cea\u306e\u88dc\u5145\u3068\u8074\u529b\u652f\u63f4\u3092\u65e9\u671f\u304b\u3089\u7d9a\u3051\u3089\u308c\u308c\u3070\u3001\u591a\u304f\u306e\u304a\u5b50\u3055\u3093\u304c\u5b66\u6821\u751f\u6d3b\u3084\u65e5\u5e38\u751f\u6d3b\u3092\u554f\u984c\u306a\u304f\u9001\u3063\u3066\u3044\u308b\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u751f\u6daf\u3092\u901a\u3058\u305f\u901a\u9662\u3068\u7d4c\u904e\u89b3\u5bdf\u306f\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:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1477\/\" target=\"_blank\" rel=\"noopener\">GeneReviews. Bartter Syndrome. NCBI Bookshelf.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/medlineplus.gov\/genetics\/gene\/bsnd\/\" target=\"_blank\" rel=\"noopener\">MedlinePlus Genetics. BSND gene.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/bartter-syndrome\/\" target=\"_blank\" rel=\"noopener\">MedlinePlus Genetics. Bartter syndrome.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/89938\" target=\"_blank\" rel=\"noopener\">Orphanet. Antenatal Bartter syndrome with sensorineural deafness (ORPHA:89938).<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3389\/fped.2022.908655\">Florea, Laura, et al. \u2018Genetic Heterogeneity in Bartter Syndrome: Clinical and Practical Importance\u2019. <em>Frontiers in Pediatrics<\/em>, vol. 10, June 2022, p. 908655. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.3389\/fped.2022.908655.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.32637\/orli.v51i1.445\">Zizlavsky, Semiramis, et al. \u2018Sensorineural Hearing Loss in Bartter Syndrome\u2019. <em>Oto Rhino Laryngologica Indonesiana<\/em>, vol. 51, no. 1, July 2021. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.32637\/orli.v51i1.445.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3389\/fmed.2023.1099840\">Choi, Naye, et al. \u2018Long-Term Outcome of Bartter Syndrome in 54 Patients: A Multicenter Study in Korea\u2019. <em>Frontiers in Medicine<\/em>, vol. 10, Mar. 2023, p. 1099840. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.3389\/fmed.2023.1099840.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/37763757\/\">Qasba, Rakhtan K., et al. \u2018Bartter Syndrome: A Systematic Review of Case Reports and Case Series\u2019. <em>Medicina<\/em>, vol. 59, no. 9, Sept. 2023, p. 1638. PMID: 37763757.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/33509356\/\">Konrad M, Nijenhuis T, Ariceta G, Bertholet-Thomas A, Calo LA, Capasso G, Emma F, Schlingmann KP, Singh M, Trepiccione F, Walsh SB, Whitton K, Vargas-Poussou R, Bockenhauer D. Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubular Disorders. Kidney Int. 2021 Feb;99(2):324-335. doi: 10.1016\/j.kint.2020.10.035. PMID: 33509356.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1007\/s12519-020-00370-4\">Mrad, F.C.C., Soares, S.B.M., de Menezes Silva, L.A.W. <em>et al.<\/em> Bartter\u2019s syndrome: clinical findings, genetic causes and therapeutic approach. <em>World J Pediatr<\/em> 17, 31\u201339 (2021). https:\/\/doi.org\/10.1007\/s12519-020-00370-4<\/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>\u30d0\u30fc\u30bf\u30fc\u75c7\u5019\u7fa4, Bartter\u75c7\u5019\u7fa4, BSND, \u30d0\u30fc\u30c1\u30f3, \u611f\u97f3\u6027\u96e3\u8074, ClC-Ka, ClC-Kb, \u4f4e\u30ab\u30ea\u30a6\u30e0\u8840\u75c7, \u4ee3\u8b1d\u6027\u30a2\u30eb\u30ab\u30ed\u30fc\u30b7\u30b9, \u30cd\u30d5\u30ed\u30ab\u30eb\u30b7\u30ce\u30fc\u30b7\u30b9, \u5869\u55aa\u5931\u6027\u5c3f\u7d30\u7ba1\u75c7, \u7f8a\u6c34\u904e\u591a, \u30a4\u30f3\u30c9\u30e1\u30bf\u30b7\u30f3, \u96fb\u89e3\u8cea\u7570\u5e38, \u907a\u4f1d\u5b50\u691c\u67fb, \u4f4e\u8eab\u9577, \u30ab\u30ea\u30a6\u30e0\u4fdd\u6301\u6027\u5229\u5c3f\u85ac, \u88dc\u8074\u5668, \u8a00\u8a9e\u7642\u6cd5, \u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d, \u6162\u6027\u814e\u75be\u60a3\uff08CKD\uff09, NIPT\u5bfe\u8c61\u5916, \u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3<\/sup><\/p>\n\n\n\n<div style=\"border:1px solid #d6ddf5;border-radius:12px;padding:1.2em 1.4em;margin:2.5rem 0 1rem;background:#f9faff;\">\n<p style=\"margin:0 0 0.4em;font-weight:bold;\">\u8457\u8005\u30fb\u76e3\u4fee<\/p>\n<p style=\"margin:0;\">\u5ca1 \u535a\u53f2\uff08\u304a\u304b \u3072\u308d\u3057\uff09\uff0f\u533b\u7642\u6cd5\u4eba\u793e\u56e3\u798f\u7f8e\u4f1a \u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u7d71\u62ec\u9662\u9577\u30fbLabo Director\uff08\u30e9\u30dc\u30c7\u30a3\u30ec\u30af\u30bf\u30fc\uff09\u3002\u6176\u61c9\u7fa9\u587e\u5927\u5b66\u533b\u5b66\u90e8\u5352\u696d\u5f8c\u3001\u65e5\u672c\u3068\u7c73\u56fd\u306e\u533b\u5e2b\u56fd\u5bb6\u8a66\u9a13\u306b\u5408\u683c\u3057\u3001\u81e8\u5e8a\u7814\u4fee\u5f8c2\u5e74\u3067\u533b\u5b66\u535a\u58eb\u3092\u53d6\u5f97\u3002\u65e5\u672c\u306b\u7d0420\u4eba\u3057\u304b\u3044\u306a\u3044\u30e9\u30dc\u30c7\u30a3\u30ec\u30af\u30bf\u30fc\u8cc7\u683c\u3092\u4fdd\u6709\u3002YouTube\u300c\u3072\u308d\u3057\u5148\u751f\u306e\u6b63\u3057\u3044\u30a8\u30d3\u30c7\u30f3\u30b9\u598a\u5a20ch\u300d\u306a\u3069\u3067\u3001\u30a8\u30d3\u30c7\u30f3\u30b9\u306b\u3082\u3068\u3065\u304f\u598a\u5a20\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u30fb\u5c0f\u5150\u814e\u6ccc\u5c3f\u5668\u75be\u60a3\u306e\u60c5\u5831\u3092\u767a\u4fe1\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n<\/div>\n\n\n\n<script type=\"application\/ld+json\">\n{\n  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\"https:\/\/www.hiro-clinic.or.jp\"\n      },\n      \"inLanguage\": \"ja\"\n    },\n    {\n      \"@type\": \"MedicalCondition\",\n      \"name\": \"Bartter\u75c7\u5019\u7fa4\u30bf\u30a4\u30d7IVa\uff08BSND\u95a2\u9023\uff09\",\n      \"alternateName\": \"\u30d0\u30fc\u30c1\u30f3\u95a2\u9023Bartter\u75c7\u5019\u7fa4\",\n      \"url\": \"https:\/\/www.hiro-clinic.or.jp\/nipt\/bartter-syndrome-bsnd-type4a\",\n      \"description\": \"BSND\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u3001\u5869\u5206\u306e\u518d\u5438\u53ce\u969c\u5bb3\u3068\u611f\u97f3\u6027\u96e3\u8074\u3092\u4f34\u3046\u5e0c\u5c11\u306a\u814e\u75be\u60a3\u3067\u3059\u3002\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u3001\u4e3b\u306b\u80ce\u5150\u671f\u30fb\u4e73\u5150\u671f\u306b\u767a\u75c7\u3057\u307e\u3059\u3002\",\n      \"cause\": {\n        \"@type\": \"MedicalCause\",\n        \"name\": 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