{"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":"2026-03-04T11:49:12","modified_gmt":"2026-03-04T02:49:12","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: 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_83 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 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ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bartter-syndrome-bsnd-type4a\/#%E7%96%BE%E6%82%A3%E5%90%8D_Disorder\" >\u75be\u60a3\u540d | Disorder<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bartter-syndrome-bsnd-type4a\/#%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-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bartter-syndrome-bsnd-type4a\/#%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-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bartter-syndrome-bsnd-type4a\/#%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-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bartter-syndrome-bsnd-type4a\/#%E7%97%87%E7%8A%B6_Symptoms\" >\u75c7\u72b6 | Symptoms<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bartter-syndrome-bsnd-type4a\/#%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%82%84%E6%96%B0%E7%94%9F%E5%85%90%E6%9C%9F%E3%81%AB%E7%8F%BE%E3%82%8C%E3%82%8B%E7%97%87%E7%8A%B6\" >\u598a\u5a20\u4e2d\u3084\u65b0\u751f\u5150\u671f\u306b\u73fe\u308c\u308b\u75c7\u72b6<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bartter-syndrome-bsnd-type4a\/#%E5%B9%BC%E5%85%90%E6%9C%9F%E3%83%BB%E5%AD%A6%E7%AB%A5%E6%9C%9F%E3%81%AE%E7%97%87%E7%8A%B6\" >\u5e7c\u5150\u671f\u30fb\u5b66\u7ae5\u671f\u306e\u75c7\u72b6<\/a><\/li><\/ul><\/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\/bartter-syndrome-bsnd-type4a\/#%E6%A4%9C%E6%9F%BB%E3%83%BB%E8%A8%BA%E6%96%AD_Testing_Diagnosis\" >\u691c\u67fb\u30fb\u8a3a\u65ad | Testing &amp; Diagnosis<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bartter-syndrome-bsnd-type4a\/#%E8%A1%80%E6%B6%B2%E3%81%A8%E5%B0%BF%E3%81%AE%E6%A4%9C%E6%9F%BB\" >\u8840\u6db2\u3068\u5c3f\u306e\u691c\u67fb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bartter-syndrome-bsnd-type4a\/#%E8%81%B4%E5%8A%9B%E6%A4%9C%E6%9F%BB\" >\u8074\u529b\u691c\u67fb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bartter-syndrome-bsnd-type4a\/#%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB\" >\u907a\u4f1d\u5b50\u691c\u67fb<\/a><\/li><\/ul><\/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\/#%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-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bartter-syndrome-bsnd-type4a\/#%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AE%E7%AE%A1%E7%90%86\" >\u598a\u5a20\u4e2d\u306e\u7ba1\u7406<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bartter-syndrome-bsnd-type4a\/#%E5%87%BA%E7%94%9F%E5%BE%8C%E3%83%BB%E9%95%B7%E6%9C%9F%E3%81%AE%E6%B2%BB%E7%99%82\" >\u51fa\u751f\u5f8c\u30fb\u9577\u671f\u306e\u6cbb\u7642<\/a><\/li><\/ul><\/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\/bartter-syndrome-bsnd-type4a\/#%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-18\" 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-19\" 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-20\" 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 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    Bartter\uff08\u30d0\u30c3\u30bf\u30fc\uff09\u75c7\u5019\u7fa4\u306f\u3001\u814e\u81d3\u306e\u4e2d\u3067\u5869\u5206\u3084\u30ab\u30ea\u30a6\u30e0\u3092\u3046\u307e\u304f\u4f53\u306b\u623b\u305b\u306a\u304f\u306a\u308b\u307e\u308c\u306a\u75c5\u6c17\u3067\u3059\u3002<br>\n\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001\u7279\u306b\u300cBSND\uff08\u30d3\u30fc\u30a8\u30b9\u30a8\u30cc\u30c7\u30a3\u30fc\uff09\u907a\u4f1d\u5b50\u300d\u304c\u95a2\u4fc2\u3059\u308b\u30bf\u30a4\u30d7IVa\u306b\u3064\u3044\u3066\u3001<br>\n\u3069\u306e\u3088\u3046\u306a\u75c7\u72b6\u304c\u3042\u308b\u306e\u304b\u3001\u8d64\u3061\u3083\u3093\u306e\u3053\u308d\u304b\u3089\u898b\u3089\u308c\u308b\u7279\u5fb4\u3001<br>\n\u96e3\u8074\u3068\u306e\u95a2\u4fc2\u3001\u691c\u67fb\u3084\u6cbb\u7642\u3001\u5c06\u6765\u306e\u898b\u901a\u3057\u306b\u3064\u3044\u3066\u3001<br>\n\u5c02\u9580\u7528\u8a9e\u3092\u3084\u3055\u3057\u304f\u8aac\u660e\u3057\u306a\u304c\u3089\u304f\u308f\u3057\u304f\u89e3\u8aac\u3057\u3066\u3044\u307e\u3059\u3002<br>\n\u300c\u5b50\u3069\u3082\u306e\u75c7\u72b6\u304c\u5fc3\u914d\u300d\u300c\u96e3\u8074\u3068\u814e\u81d3\u306e\u75c5\u6c17\u304c\u95a2\u4fc2\u3042\u308b\u306e\uff1f\u300d\u3068\u3044\u3046\u65b9\u306b\u3082\u5f79\u7acb\u3064\u5185\u5bb9\u3067\u3059\u3002\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>BSND<\/strong><\/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\" class=\"wp-image-101397\"\/><\/figure><\/div>\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>BSND\uff08Barttin CLCNK\u578b\u88dc\u52a9\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u03b2\uff09\u907a\u4f1d\u5b50\u306f\u3001\u30d2\u30c8\u306e\u7b2c1\u67d3\u8272\u4f53\u306ep32.3\u9818\u57df\u306b\u4f4d\u7f6e\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u30d0\u30fc\u30c1\u30f3\uff08Barttin\uff09\u3068\u3044\u3046\u305f\u3093\u3071\u304f\u8cea\u3092\u4f5c\u308b\u305f\u3081\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002\u30d0\u30fc\u30c1\u30f3\u306f\u3001ClC-Ka\uff08CLCNKA\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u4f5c\u3089\u308c\u308b\uff09\u304a\u3088\u3073ClC-Kb\uff08CLCNKB\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u4f5c\u3089\u308c\u308b\uff09\u3068\u3044\u3046\u5869\u5316\u7269\u30a4\u30aa\u30f3\uff08Cl\u207b\uff09\u30c1\u30e3\u30cd\u30eb\uff08cloride ion channel\uff09\u306e\u50cd\u304d\u3092\u52a9\u3051\u308b\u300c\u88dc\u52a9\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u300d\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u30c1\u30e3\u30cd\u30eb\u306f\u3001\u814e\u81d3\u306e\u592a\u3044\u30d8\u30f3\u30ec\u4e0a\u884c\u811a\uff08Henle\u306e\u30eb\u30fc\u30d7\u306ethick ascending limb\uff09\u3068\u547c\u3070\u308c\u308b\u90e8\u5206\u3068\u3001\u5185\u8033\uff08inner ear\uff09\u306e\u30ab\u30ea\u30a6\u30e0\u5206\u6ccc\u4e0a\u76ae\u306b\u5b58\u5728\u3057\u307e\u3059\u3002BSND\u907a\u4f1d\u5b50\u306b\u7570\u5e38\uff08\u5909\u7570\uff09\u304c\u3042\u308b\u3068\u3001\u3053\u308c\u3089\u306e\u30c1\u30e3\u30cd\u30eb\u306e\u50cd\u304d\u304c\u59a8\u3052\u3089\u308c\u3001\u814e\u81d3\u3067\u306e\u5869\u5206\u518d\u5438\u53ce\u306e\u969c\u5bb3\u3068\u611f\u97f3\u6027\u96e3\u8074\uff08sensorineural hearing loss\uff09\u3068\u3044\u3046\u3001\u8033\u306e\u5185\u8033\u306b\u539f\u56e0\u306e\u3042\u308b\u8074\u529b\u969c\u5bb3\u304c\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E6%82%A3%E5%90%8D_Disorder\"><\/span>\u75be\u60a3\u540d | Disorder<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u533b\u5b66\u7684\u306b\u306fBartter\uff08\u30d0\u30c3\u30bf\u30fc\uff09\u75c7\u5019\u7fa4\u30bf\u30a4\u30d7IVa\uff08\u82f1\u8a9e\u8868\u8a18\uff1aBartter Syndrome Type IVa\uff09\u3068\u547c\u3070\u308c\u307e\u3059\u3002\u5225\u540d\u3068\u3057\u3066\u306f\u3001<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5e7c\u5c11\u671f\u767a\u75c7\u306eBartter\u75c7\u5019\u7fa4\u306b\u611f\u97f3\u6027\u96e3\u8074\u3092\u4f34\u3046\u578b\uff08\u82f1\u8a9e\uff1ainfantile Bartter syndrome with sensorineural deafness\uff09<\/li>\n\n\n\n<li>DFNB73\uff08\u96e3\u8074\u306e\u5206\u985e\u306b\u304a\u3051\u308b\u81ea\u52d5\u6f5c\u6027\u907a\u4f1d\u578b\u306e73\u756a\u76ee\uff09<\/li>\n<\/ul>\n\n\n\n<p>\u3068\u8868\u8a18\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A6%82%E8%A6%81_Overview\"><\/span>\u6982\u8981 | Overview<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Bartter\u75c7\u5019\u7fa4\uff08\u30d0\u30c3\u30bf\u30fc\u3057\u3087\u3046\u3053\u3046\u3050\u3093\uff09\u3068\u306f\u3001\u814e\u81d3\u306e\u4e2d\u306e\u300c\u30d8\u30f3\u30ec\u306e\u30eb\u30fc\u30d7\u300d\u3068\u547c\u3070\u308c\u308b\u90e8\u5206\u306e\u50cd\u304d\u306b\u7570\u5e38\u304c\u8d77\u3053\u308b\u307e\u308c\u306a\u907a\u4f1d\u6027\u306e\u75c5\u6c17\u306e\u7dcf\u79f0\u3067\u3059\u3002\u305d\u306e\u4e2d\u3067\u3082\u30bf\u30a4\u30d7IVa\u306f\u3001BSND\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u3001\u814e\u81d3\u306e\u5869\u5206\u306e\u518d\u5438\u53ce\u969c\u5bb3\u306b\u52a0\u3048\u3066\u3001\u611f\u97f3\u6027\u96e3\u8074\u3068\u3044\u3046\u8033\u306e\u969c\u5bb3\u3082\u7279\u5fb4\u7684\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u30bf\u30a4\u30d7\u3067\u306f\u3001\u30d0\u30fc\u30c1\u30f3\u3068\u3044\u3046\u305f\u3093\u3071\u304f\u8cea\u306e\u50cd\u304d\u304c\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002\u30d0\u30fc\u30c1\u30f3\u304c\u3046\u307e\u304f\u6a5f\u80fd\u3057\u306a\u3044\u3068\u3001\u814e\u81d3\u3067\u306e\u5869\u5206\u306e\u8abf\u7bc0\u304c\u3067\u304d\u306a\u304f\u306a\u308a\u3001\u4f53\u6db2\u306e\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u3066\u3057\u307e\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u5185\u8033\uff08\u97f3\u3092\u611f\u3058\u53d6\u308b\u5668\u5b98\uff09\u3067\u3082\u540c\u3058\u305f\u3093\u3071\u304f\u8cea\u304c\u5fc5\u8981\u306a\u305f\u3081\u3001\u8074\u529b\u969c\u5bb3\u304c\u540c\u6642\u306b\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/bartter-syndrome-bsnd-type4a\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30d0\u30fc\u30c1\u30f3\u95a2\u9023Bartter\u75c7\u5019\u7fa4\uff08\u30bf\u30a4\u30d7IVa\uff09\u3010BSND\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">BSND\u907a\u4f1d\u5b50\u306b\u95a2\u9023\u3059\u308bBartter\u75c7\u5019\u7fa4\uff08\u30bf\u30a4\u30d7IVa\uff09\u306f\u3001\u814e\u81d3\u306e\u5869\u5206\u8abf\u6574\u306e\u7570\u5e38\u306b\u3088\u308a\u3001\u4f4e\u30ab\u30ea\u30a6\u30e0\u8840\u75c7\u3084\u96e3\u8074\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u75c7\u72b6\u30fb\u691c\u67fb...<\/div>\n      <\/div>\n    <\/a>\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>Bartter\u75c7\u5019\u7fa4\u306f\u975e\u5e38\u306b\u307e\u308c\u306a\u75c5\u6c17\u3067\u3001\u767a\u751f\u983b\u5ea6\u306f\u304a\u3088\u305d10\u4e07\u4eba\u306b1\u4eba\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u30bf\u30a4\u30d7IVa\u306f\u3001\u5168\u4f53\u306e\u4e2d\u3067\u3082\u3055\u3089\u306b\u7a00\u3067\u3059\u3002\u4e2d\u5357\u7c73\uff08\u30b3\u30b9\u30bf\u30ea\u30ab\uff09\u3084\u4e2d\u6771\uff08\u30af\u30a6\u30a7\u30fc\u30c8\uff09\u3067\u306f\u3001\u3082\u3046\u5c11\u3057\u9ad8\u3044\u983b\u5ea6\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u5730\u57df\u3082\u3042\u308a\u307e\u3059\u3002\u4e21\u89aa\u304c\u8840\u7e01\u95a2\u4fc2\u306b\u3042\u308b\u5834\u5408\uff08\u8fd1\u89aa\u5a5a\uff09\u3001\u767a\u75c7\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u304f\u306a\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\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\u75c5\u6c17\u306e\u539f\u56e0\u306f\u3001BSND\u907a\u4f1d\u5b50\u306b\u4e21\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3044\u3060\u5909\u7570\uff08\u7570\u5e38\uff09\u306b\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u304c\u6b63\u3057\u304f\u50cd\u304b\u306a\u3044\u3068\u3001\u30d0\u30fc\u30c1\u30f3\u3068\u3044\u3046\u88dc\u52a9\u305f\u3093\u3071\u304f\u8cea\u304c\u4f5c\u3089\u308c\u305a\u3001ClC-Ka\u304a\u3088\u3073ClC-Kb\u30c1\u30e3\u30cd\u30eb\u3068\u3044\u3046\u5869\u5316\u7269\u306e\u901a\u308a\u9053\u304c\u3046\u307e\u304f\u814e\u81d3\u3084\u8033\u306b\u914d\u7f6e\u3055\u308c\u306a\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u7d50\u679c\u3001<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u814e\u81d3\u3067\u306e\u5869\u5206\u306e\u518d\u5438\u53ce\u304c\u3046\u307e\u304f\u3044\u304b\u306a\u304f\u306a\u308a\u3001\u4f53\u304b\u3089\u5927\u91cf\u306b\u5869\u5206\u304c\u5931\u308f\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u540c\u6642\u306b\u3001\u5185\u8033\u3067\u306e\u30ab\u30ea\u30a6\u30e0\u30a4\u30aa\u30f3\u306e\u5faa\u74b0\u306b\u3082\u652f\u969c\u304c\u51fa\u3066\u3001\u97f3\u3092\u611f\u3058\u308b\u305f\u3081\u306b\u5fc5\u8981\u306a\u300c\u5185\u8033\u96fb\u4f4d\u300d\u304c\u5931\u308f\u308c\u3066\u3001\u611f\u97f3\u6027\u96e3\u8074\u304c\u8d77\u3053\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u308c\u3089\u306f\u3059\u3079\u3066\u3001\u4f53\u306e\u96fb\u89e3\u8cea\u30d0\u30e9\u30f3\u30b9\uff08\u30ca\u30c8\u30ea\u30a6\u30e0\u3001\u30ab\u30ea\u30a6\u30e0\u3001\u30ab\u30eb\u30b7\u30a6\u30e0\u306a\u3069\uff09\u3084\u6c34\u5206\u8abf\u6574\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u50cd\u304d\u304c\u59a8\u3052\u3089\u308c\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u751f\u3058\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_Symptoms\"><\/span>\u75c7\u72b6 | Symptoms<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%82%84%E6%96%B0%E7%94%9F%E5%85%90%E6%9C%9F%E3%81%AB%E7%8F%BE%E3%82%8C%E3%82%8B%E7%97%87%E7%8A%B6\"><\/span>\u598a\u5a20\u4e2d\u3084\u65b0\u751f\u5150\u671f\u306b\u73fe\u308c\u308b\u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7f8a\u6c34\u904e\u591a\uff08\u3088\u3046\u3059\u3044\u304b\u305f\u3001polyhydramnios\uff09\uff1a\u80ce\u5150\u304c\u5b50\u5bae\u5185\u3067\u5c3f\u3092\u5927\u91cf\u306b\u4f5c\u308b\u305f\u3081\u3001\u7f8a\u6c34\u306e\u91cf\u304c\u7570\u5e38\u306b\u5897\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff08\u598a\u5a2022\uff5e28\u9031\u3054\u308d\u304b\u3089\u898b\u3089\u308c\u307e\u3059\uff09\u3002<\/li>\n\n\n\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/premature-birth\/\">\u65e9\u7523<\/a>\uff1a\u7f8a\u6c34\u904e\u591a\u306e\u5f71\u97ff\u3067\u3001\u4e88\u5b9a\u3088\u308a\u3082\u65e9\u304f\u8d64\u3061\u3083\u3093\u304c\u751f\u307e\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u51fa\u751f\u4f53\u91cd\u304c\u8efd\u3044\uff08\u4f4e\u51fa\u751f\u4f53\u91cd\u5150\uff09<\/li>\n\n\n\n<li>\u751f\u5f8c\u306e\u8131\u6c34\u75c7\u72b6\u3084\u4f53\u91cd\u304c\u5897\u3048\u306b\u304f\u3044\uff08\u54fa\u4e73\u969c\u5bb3\u30fb\u767a\u80b2\u4e0d\u826f\uff09<\/li>\n\n\n\n<li>\u91cd\u5ea6\u306e\u5c3f\u91cf\u5897\u52a0\uff08\u591a\u5c3f\uff09<\/li>\n\n\n\n<li>\u96fb\u89e3\u8cea\u306e\u7570\u5e38\uff08\u7279\u306b\u30ab\u30ea\u30a6\u30e0\u3084\u5869\u5316\u7269\u306e\u4e0d\u8db3\uff09<\/li>\n\n\n\n<li>\u4e21\u5074\u6027\u611f\u97f3\u6027\u96e3\u8074\uff08\u4e21\u8033\u3068\u3082\u306b\u805e\u3053\u3048\u306b\u304f\u3044\uff09<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%B9%BC%E5%85%90%E6%9C%9F%E3%83%BB%E5%AD%A6%E7%AB%A5%E6%9C%9F%E3%81%AE%E7%97%87%E7%8A%B6\"><\/span>\u5e7c\u5150\u671f\u30fb\u5b66\u7ae5\u671f\u306e\u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6162\u6027\u7684\u306a\u4f4e\u30ab\u30ea\u30a6\u30e0\u8840\u75c7\u306b\u3088\u308b\u3001\u7b4b\u529b\u306e\u4f4e\u4e0b\u3001\u3051\u3044\u308c\u3093\u3001\u5410\u304d\u6c17<\/li>\n\n\n\n<li>\u4fbf\u79d8\u3001\u5869\u5206\u3078\u306e\u5f37\u3044\u6b32\u6c42\uff08\u5869\u3092\u6b32\u3057\u304c\u308b\uff09<\/li>\n\n\n\n<li>\u6210\u9577\u306e\u9045\u308c\uff08\u4f4e\u8eab\u9577\u3084\u601d\u6625\u671f\u306e\u9045\u308c\uff09<\/li>\n\n\n\n<li>\u7b4b\u7dca\u5f35\u306e\u4f4e\u4e0b\uff08\u3050\u3063\u305f\u308a\u3057\u305f\u611f\u3058\uff09\u3084\u904b\u52d5\u767a\u9054\u306e\u9045\u308c<\/li>\n\n\n\n<li>\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\uff08\u3068\u304c\u3063\u305f\u3042\u3054\u3001\u5782\u308c\u305f\u53e3\u89d2\u3001\u5927\u304d\u306a\u8033\uff09\u304c\u307f\u3089\u308c\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059<\/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<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A1%80%E6%B6%B2%E3%81%A8%E5%B0%BF%E3%81%AE%E6%A4%9C%E6%9F%BB\"><\/span>\u8840\u6db2\u3068\u5c3f\u306e\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30ab\u30ea\u30a6\u30e0\uff08K\u207a\uff09\u5024\u306e\u4f4e\u4e0b\uff08\u901a\u5e383 mmol\/L\u672a\u6e80\uff09<\/li>\n\n\n\n<li>\u5869\u5316\u7269\uff08Cl\u207b\uff09\u306e\u4f4e\u4e0b<\/li>\n\n\n\n<li>\u4ee3\u8b1d\u6027\u30a2\u30eb\u30ab\u30ed\u30fc\u30b7\u30b9\uff08metabolic alkalosis\uff09\uff1a\u8840\u6db2\u304c\u30a2\u30eb\u30ab\u30ea\u6027\u306b\u50be\u304f\u72b6\u614b<\/li>\n\n\n\n<li>\u30ec\u30cb\u30f3\u3084\u30a2\u30eb\u30c9\u30b9\u30c6\u30ed\u30f3\u306e\u4e0a\u6607\uff1a\u4f53\u304c\u5869\u5206\u3092\u88dc\u304a\u3046\u3068\u3057\u3066\u30db\u30eb\u30e2\u30f3\u3092\u591a\u304f\u51fa\u3059<\/li>\n\n\n\n<li>\u5c3f\u4e2d\u306e\u30ca\u30c8\u30ea\u30a6\u30e0\u3084\u30ab\u30eb\u30b7\u30a6\u30e0\u304c\u591a\u3044<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%81%B4%E5%8A%9B%E6%A4%9C%E6%9F%BB\"><\/span>\u8074\u529b\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>OAE\uff08\u8033\u97f3\u97ff\u653e\u5c04\u691c\u67fb\uff09\uff1a\u5185\u8033\u306e\u5916\u6709\u6bdb\u7d30\u80de\u306e\u50cd\u304d\u3092\u8abf\u3079\u308b\u691c\u67fb\u3002\u6b63\u5e38\u3067\u306f\u53cd\u5fdc\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u3053\u306e\u75c5\u6c17\u3067\u306f\u53cd\u5fdc\u304c\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>BERA\uff08\u8074\u6027\u8133\u5e79\u53cd\u5fdc\uff09\u3084ASSR\uff08\u8074\u6027\u5b9a\u5e38\u53cd\u5fdc\uff09\uff1a\u8133\u307e\u3067\u97f3\u304c\u5c4a\u3044\u3066\u3044\u308b\u304b\u3069\u3046\u304b\u3092\u78ba\u8a8d\u3059\u308b\u691c\u67fb\u3002\u6df1\u523b\u306a\u96e3\u8074\u304c\u3042\u308b\u3068\u6ce2\u5f62\u304c\u73fe\u308c\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB\"><\/span>\u907a\u4f1d\u5b50\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>BSND\u907a\u4f1d\u5b50\u3092\u542b\u3080\u30d1\u30cd\u30eb\u691c\u67fb\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u4ed6\u306b\u3082\u3001\u985e\u4f3c\u306e\u75c5\u6c17\u3092\u533a\u5225\u3059\u308b\u305f\u3081\u306bCLCNKB\u3001SLC12A1\u306a\u3069\u306e\u907a\u4f1d\u5b50\u3082\u4e00\u7dd2\u306b\u8abf\u3079\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff1a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3067\u907a\u4f1d\u5b50\u7570\u5e38\u3092\u8abf\u3079\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/li>\n<\/ul>\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=\"%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=\"%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<ul class=\"wp-block-list\">\n<li>\u7f8a\u6c34\u306e\u6e1b\u91cf\uff08\u7f8a\u6c34\u7a7f\u523a\uff09<\/li>\n\n\n\n<li>\u30a4\u30f3\u30c9\u30e1\u30bf\u30b7\u30f3\uff08NSAIDs\uff1a\u975e\u30b9\u30c6\u30ed\u30a4\u30c9\u6027\u6297\u708e\u75c7\u85ac\uff09\u306e\u4f7f\u7528\u3067\u7f8a\u6c34\u91cf\u3092\u6e1b\u3089\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u80ce\u5150\u306e\u5fc3\u81d3\uff08\u52d5\u8108\u7ba1\uff09\u306b\u5f71\u97ff\u304c\u51fa\u308b\u30ea\u30b9\u30af\u3082\u3042\u308b\u305f\u3081\u3001\u5c02\u9580\u533b\u30c1\u30fc\u30e0\u3067\u614e\u91cd\u306b\u5224\u65ad\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\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%83%BB%E9%95%B7%E6%9C%9F%E3%81%AE%E6%B2%BB%E7%99%82\"><\/span>\u51fa\u751f\u5f8c\u30fb\u9577\u671f\u306e\u6cbb\u7642<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<h4 class=\"wp-block-heading\">\u96fb\u89e3\u8cea\u306e\u88dc\u5145<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5869\u5316\u30ca\u30c8\u30ea\u30a6\u30e0\uff08NaCl\uff09\uff1a1\u65e5\u3042\u305f\u308a5\u301c10 mEq\/kg<\/li>\n\n\n\n<li>\u5869\u5316\u30ab\u30ea\u30a6\u30e0\uff08KCl\uff09\uff1a2\u301c5 mEq\/kg<\/li>\n\n\n\n<li>\u30de\u30b0\u30cd\u30b7\u30a6\u30e0\u88dc\u5145\u3082\u5fc5\u8981\u306a\u5834\u5408\u304c\u3042\u308a\u307e\u3059<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\">\u85ac\u7269\u6cbb\u7642<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>NSAIDs\uff08\u4f8b\uff1a\u30a4\u30f3\u30c9\u30e1\u30bf\u30b7\u30f3\u3001\u30a4\u30d6\u30d7\u30ed\u30d5\u30a7\u30f3\uff09\uff1a\u814e\u81d3\u306e\u5869\u5206\u55aa\u5931\u3092\u6291\u3048\u308b<\/li>\n\n\n\n<li>\u30ab\u30ea\u30a6\u30e0\u4fdd\u6301\u6027\u5229\u5c3f\u85ac\uff08\u4f8b\uff1a\u30b9\u30d4\u30ed\u30ce\u30e9\u30af\u30c8\u30f3\u3001\u30a2\u30df\u30ed\u30e9\u30a4\u30c9\uff09\uff1a\u30ab\u30ea\u30a6\u30e0\u306e\u55aa\u5931\u3092\u9632\u3050<\/li>\n\n\n\n<li>ACE\u963b\u5bb3\u85ac\u3084ARB\uff08\u30ec\u30cb\u30f3-\u30a2\u30f3\u30b8\u30aa\u30c6\u30f3\u30b7\u30f3\u7cfb\u3092\u6291\u3048\u308b\u85ac\uff09\uff1a\u614e\u91cd\u306a\u4f7f\u7528\u304c\u5fc5\u8981<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\">\u8074\u529b\u652f\u63f4<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u88dc\u8074\u5668\u306e\u88c5\u7740\u307e\u305f\u306f\u4eba\u5de5\u5185\u8033\uff08\u5fc5\u8981\u306b\u5fdc\u3058\u3066\uff09<\/li>\n\n\n\n<li>\u8a00\u8a9e\u7642\u6cd5\uff08\u30b9\u30d4\u30fc\u30c1\u30bb\u30e9\u30d4\u30fc\uff09\u3084\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u306b\u3088\u308b\u65e9\u671f\u652f\u63f4\u304c\u91cd\u8981\u3067\u3059<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\">\u6210\u9577\u652f\u63f4<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6210\u9577\u30db\u30eb\u30e2\u30f3\u7642\u6cd5\uff1a\u4f4e\u8eab\u9577\u304c\u6301\u7d9a\u3057\u3001\u6210\u9577\u30db\u30eb\u30e2\u30f3\u306e\u4e0d\u8db3\u304c\u3042\u308b\u5834\u5408\u306b\u8003\u616e\u3055\u308c\u307e\u3059<\/li>\n<\/ul>\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>\u8074\u529b\u969c\u5bb3\u306f\u4e0d\u53ef\u9006\u7684\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\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u814e\u6a5f\u80fd\uff1a\u6162\u6027\u814e\u75be\u60a3\uff08CKD\uff09\u306b\u9032\u884c\u3059\u308b\u30ea\u30b9\u30af\u304c\u3042\u308a\u307e\u3059\u3002\u7279\u306b\u30bf\u30a4\u30d7IVa\u3067\u306f\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6210\u9577\u3068\u767a\u9054\uff1a\u9069\u5207\u306a\u88dc\u5145\u3084\u30db\u30eb\u30e2\u30f3\u6cbb\u7642\u3067\u591a\u304f\u306e\u5b50\u3069\u3082\u304c\u8eab\u9577\u3092\u4f38\u3070\u3059\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u304c\u300140\uff05\u7a0b\u5ea6\u306e\u60a3\u8005\u3055\u3093\u304c\u4f4e\u8eab\u9577\u3092\u6301\u7d9a\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5bff\u547d\uff1a\u5341\u5206\u306a\u6cbb\u7642\u3068\u7ba1\u7406\u304c\u306a\u3055\u308c\u3066\u3044\u308c\u3070\u3001\u901a\u5e38\u306e\u751f\u6d3b\u304c\u53ef\u80fd\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u751f\u6d3b\u306e\u8cea\uff1a\u5bb6\u65cf\u3084\u533b\u7642\u30c1\u30fc\u30e0\u3068\u306e\u9023\u643a\u306b\u3088\u308a\u3001\u5927\u304d\u304f\u5411\u4e0a\u3059\u308b\u3053\u3068\u304c\u671f\u5f85\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\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<ul class=\"wp-block-list\">\n<li><strong>\u907a\u4f1d\u5b50\uff08Gene\uff09<\/strong><strong><br><\/strong>\u4eba\u306e\u4f53\u306e\u4e2d\u3067\u3001\u9aea\u306e\u8272\u3084\u8eab\u9577\u3001\u5185\u81d3\u306e\u50cd\u304d\u306a\u3069\u3092\u6c7a\u3081\u308b\u300c\u8a2d\u8a08\u56f3\u300d\u306e\u3088\u3046\u306a\u60c5\u5831\u3002\u89aa\u304b\u3089\u5b50\u3078\u53d7\u3051\u7d99\u304c\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u5909\u7570\uff08Gene Mutation\uff09<\/strong><strong><br><\/strong>\u907a\u4f1d\u5b50\u306e\u4e00\u90e8\u306b\u9593\u9055\u3044\u304c\u3042\u308b\u72b6\u614b\u3002\u3053\u306e\u5909\u5316\u304c\u75c5\u6c17\u306e\u539f\u56e0\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u81ea\u52d5\u6f5c\u6027\u907a\u4f1d\uff08Autosomal Recessive Inheritance\uff09<br><\/strong>\u4e21\u89aa\u304b\u3089\u305d\u308c\u305e\u308c1\u3064\u305a\u3064\u7570\u5e38\u306e\u3042\u308b\u907a\u4f1d\u5b50\u3092\u53d7\u3051\u53d6\u3063\u305f\u3068\u304d\u306b\u75c5\u6c17\u3068\u3057\u3066\u73fe\u308c\u308b\u30bf\u30a4\u30d7\u306e\u907a\u4f1d\u306e\u4ed5\u65b9\u3067\u3059\u3002\u4e21\u89aa\u306f\u5065\u5eb7\u306b\u898b\u3048\u3066\u3082\u3001\u5b50\u3069\u3082\u306b\u75c7\u72b6\u304c\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>BSND\u907a\u4f1d\u5b50\uff08BSND gene\uff09<\/strong><strong><br><\/strong>\u814e\u81d3\u3084\u8033\u306e\u4e2d\u3067\u4f7f\u308f\u308c\u308b\u300c\u30d0\u30fc\u30c1\u30f3\u300d\u3068\u3044\u3046\u305f\u3093\u3071\u304f\u8cea\u3092\u4f5c\u308b\u305f\u3081\u306e\u907a\u4f1d\u5b50\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306b\u7570\u5e38\u304c\u3042\u308b\u3068\u3001Bartter\u75c7\u5019\u7fa4\u30bf\u30a4\u30d7IVa\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30d0\u30fc\u30c1\u30f3\uff08Barttin\uff09<\/strong><strong><br><\/strong>\u5869\u5206\u3092\u52d5\u304b\u3059\u300c\u901a\u308a\u9053\uff08\u30c1\u30e3\u30cd\u30eb\uff09\u300d\u3092\u52a9\u3051\u308b\u305f\u3093\u3071\u304f\u8cea\u3067\u3001\u814e\u81d3\u3068\u5185\u8033\u306e\u306f\u305f\u3089\u304d\u306b\u3068\u3066\u3082\u5927\u5207\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5869\u5316\u7269\u30c1\u30e3\u30cd\u30eb\uff08Chloride Channel\uff09<\/strong><strong><br><\/strong>\u7d30\u80de\u306e\u4e2d\u3068\u5916\u3067\u5869\u5206\uff08\u5869\u5316\u7269\u30a4\u30aa\u30f3\uff09\u3092\u79fb\u52d5\u3055\u305b\u308b\u901a\u8def\u3002\u4f53\u306e\u6c34\u5206\u3084\u96fb\u89e3\u8cea\u306e\u30d0\u30e9\u30f3\u30b9\u3092\u4fdd\u3064\u5f79\u5272\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30d8\u30f3\u30ec\u306e\u30eb\u30fc\u30d7\u592a\u3044\u4e0a\u884c\u811a\uff08Thick Ascending Limb of Henle&#8217;s Loop\uff09<\/strong><strong><br><\/strong>\u814e\u81d3\u306e\u4e2d\u306b\u3042\u308b\u7d30\u3044\u7ba1\u306e\u4e00\u90e8\u3067\u3001\u4f53\u306b\u5fc5\u8981\u306a\u5869\u5206\u3084\u6c34\u5206\u3092\u56de\u53ce\u3059\u308b\u5834\u6240\u3067\u3059\u3002\u3053\u3053\u306b\u7570\u5e38\u304c\u3042\u308b\u3068\u3001\u5c3f\u306b\u5869\u5206\u304c\u5927\u91cf\u306b\u51fa\u3066\u3057\u307e\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5869\u5206\u55aa\u5931\u6027\u5c3f\u7d30\u7ba1\u969c\u5bb3\uff08Salt-Wasting Tubulopathy\uff09<\/strong><strong><br><\/strong>\u814e\u81d3\u306e\u969c\u5bb3\u306b\u3088\u3063\u3066\u3001\u5fc5\u8981\u306a\u5869\u5206\u3084\u6c34\u5206\u304c\u4f53\u306b\u623b\u3089\u305a\u306b\u5c3f\u3068\u4e00\u7dd2\u306b\u51fa\u3066\u3057\u307e\u3046\u75c5\u6c17\u306e\u30b0\u30eb\u30fc\u30d7\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>Bartter\u75c7\u5019\u7fa4\uff08Bartter Syndrome\uff09<\/strong><strong><br><\/strong>\u814e\u81d3\u306e\u50cd\u304d\u306b\u7570\u5e38\u304c\u3042\u308a\u3001\u5869\u5206\u3084\u30ab\u30ea\u30a6\u30e0\u304c\u4f53\u306b\u8db3\u308a\u306a\u304f\u306a\u3063\u3066\u3057\u307e\u3046\u75c5\u6c17\u3002\u8131\u6c34\u3001\u6210\u9577\u306e\u9045\u308c\u3001\u96fb\u89e3\u8cea\u306e\u7570\u5e38\u306a\u3069\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30bf\u30a4\u30d7IVa\uff08Type IVa\uff09<\/strong><strong><br><\/strong>Bartter\u75c7\u5019\u7fa4\u306e\u4e2d\u3067\u3082\u3001\u8033\u304c\u805e\u3053\u3048\u306b\u304f\u304f\u306a\u308b\u300c\u611f\u97f3\u6027\u96e3\u8074\u300d\u3092\u4f34\u3046\u30bf\u30a4\u30d7\u3067\u3059\u3002BSND\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u304c\u539f\u56e0\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u611f\u97f3\u6027\u96e3\u8074\uff08Sensorineural Hearing Loss\uff09<\/strong><strong><br><\/strong>\u8033\u306e\u5965\u306b\u3042\u308b\u5185\u8033\u3084\u3001\u8133\u3078\u97f3\u3092\u4f1d\u3048\u308b\u795e\u7d4c\u304c\u3046\u307e\u304f\u50cd\u304b\u306a\u3044\u3053\u3068\u3067\u8d77\u3053\u308b\u96e3\u8074\u3067\u3059\u3002\u97f3\u306f\u805e\u3053\u3048\u306b\u304f\u304f\u3001\u8a00\u8449\u304c\u308f\u304b\u308a\u3065\u3089\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7f8a\u6c34\u904e\u591a\uff08Polyhydramnios\uff09<\/strong><strong><br><\/strong>\u598a\u5a20\u4e2d\u306b\u8d64\u3061\u3083\u3093\u306e\u5c3f\u304c\u591a\u304f\u306a\u308a\u3001\u7f8a\u6c34\uff08\u8d64\u3061\u3083\u3093\u3092\u5305\u3080\u6c34\uff09\u306e\u91cf\u304c\u5897\u3048\u3059\u304e\u308b\u72b6\u614b\u3067\u3059\u3002\u8d64\u3061\u3083\u3093\u306e\u814e\u81d3\u306e\u75c5\u6c17\u304c\u95a2\u4fc2\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/premature-birth\/\">\u65e9\u7523<\/a>\uff08Premature Birth\uff09<\/strong><strong><br><\/strong>\u598a\u5a20\u304c\u4e88\u5b9a\u3088\u308a\u65e9\u304f\u7d42\u308f\u3063\u3066\u3001\u8d64\u3061\u3083\u3093\u304c\u65e9\u304f\u751f\u307e\u308c\u308b\u3053\u3068\u3067\u3059\u3002\u7f8a\u6c34\u304c\u591a\u3059\u304e\u308b\u3068<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/premature-birth\/\">\u65e9\u7523<\/a>\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u591a\u5c3f\uff08Polyuria\uff09<\/strong><strong><br><\/strong>\u304a\u3057\u3063\u3053\u304c\u3068\u3066\u3082\u591a\u304f\u51fa\u308b\u72b6\u614b\u3002\u814e\u81d3\u304c\u3046\u307e\u304f\u6c34\u5206\u3084\u5869\u5206\u3092\u4f53\u306b\u623b\u305b\u306a\u3044\u3068\u304d\u306b\u8d77\u3053\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8131\u6c34\uff08Dehydration\uff09<\/strong><strong><br><\/strong>\u6c34\u5206\u304c\u4f53\u304b\u3089\u5931\u308f\u308c\u3059\u304e\u305f\u72b6\u614b\u3002\u3081\u307e\u3044\u3084\u3060\u308b\u3055\u3001\u4f53\u91cd\u306e\u6e1b\u5c11\u306a\u3069\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f4e\u30ab\u30ea\u30a6\u30e0\u8840\u75c7\uff08Hypokalemia\uff09<\/strong><strong><br><\/strong>\u8840\u6db2\u4e2d\u306e\u30ab\u30ea\u30a6\u30e0\u304c\u5c11\u306a\u304f\u306a\u3063\u3066\u3044\u308b\u72b6\u614b\u3067\u3001\u7b4b\u529b\u304c\u5f31\u304f\u306a\u3063\u305f\u308a\u3001\u3051\u3044\u308c\u3093\u3084\u4e0d\u6574\u8108\u304c\u8d77\u3053\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4ee3\u8b1d\u6027\u30a2\u30eb\u30ab\u30ed\u30fc\u30b7\u30b9\uff08Metabolic Alkalosis\uff09<\/strong><strong><br><\/strong>\u4f53\u306e\u4e2d\u306e\u9178\u3068\u30a2\u30eb\u30ab\u30ea\u306e\u30d0\u30e9\u30f3\u30b9\u304c\u304f\u305a\u308c\u3001\u30a2\u30eb\u30ab\u30ea\u306b\u50be\u304d\u3059\u304e\u3066\u3057\u307e\u3063\u305f\u72b6\u614b\u3067\u3059\u3002\u4f53\u8abf\u4e0d\u826f\u3084\u7b4b\u8089\u306e\u3051\u3044\u308c\u3093\u304c\u8d77\u3053\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30cd\u30d5\u30ed\u30ab\u30eb\u30b7\u30ce\u30fc\u30b7\u30b9\uff08Nephrocalcinosis\uff09<\/strong><strong><br><\/strong>\u814e\u81d3\u306b\u30ab\u30eb\u30b7\u30a6\u30e0\u304c\u305f\u307e\u3063\u3066\u3057\u307e\u3044\u3001\u77f3\u306e\u3088\u3046\u306b\u786c\u304f\u306a\u308b\u72b6\u614b\u3002\u5c3f\u4e2d\u306b\u30ab\u30eb\u30b7\u30a6\u30e0\u304c\u591a\u3044\u3068\u8d77\u3053\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>OAE\uff08\u8033\u97f3\u97ff\u653e\u5c04\u691c\u67fb \/ Otoacoustic Emissions\uff09<\/strong><strong><br><\/strong>\u8033\u306e\u4e2d\u306e\u7d30\u80de\u304c\u6b63\u5e38\u306b\u50cd\u3044\u3066\u3044\u308b\u304b\u3092\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002\u8d64\u3061\u3083\u3093\u3067\u3082\u8ca0\u62c5\u304c\u5c11\u306a\u304f\u53d7\u3051\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>BERA\uff08\u8074\u6027\u8133\u5e79\u53cd\u5fdc \/ Brainstem Evoked Response Audiometry\uff09<\/strong><strong><br><\/strong>\u97f3\u304c\u8133\u307e\u3067\u5c4a\u3044\u3066\u3044\u308b\u304b\u3069\u3046\u304b\u3092\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002\u8074\u529b\u304c\u3069\u306e\u304f\u3089\u3044\u3042\u308b\u304b\u3001\u53cd\u5fdc\u306e\u6ce2\u5f62\u3067\u308f\u304b\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>ASSR\uff08\u8074\u6027\u5b9a\u5e38\u53cd\u5fdc \/ Auditory Steady-State Response\uff09<\/strong><strong><br><\/strong> \u96e3\u8074\u306e\u7a0b\u5ea6\u3092\u8abf\u3079\u308b\u305f\u3081\u306e\u691c\u67fb\u3067\u3001\u7279\u306b\u8d64\u3061\u3083\u3093\u3084\u5c0f\u3055\u306a\u5b50\u3069\u3082\u306b\u4f7f\u308f\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u88dc\u8074\u5668\uff08Hearing Aid\uff09<\/strong><strong><br><\/strong>\u97f3\u3092\u5927\u304d\u304f\u3057\u3066\u805e\u3053\u3048\u3092\u52a9\u3051\u308b\u88c5\u7f6e\u3002\u8033\u306b\u3064\u3051\u3066\u4f7f\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4eba\u5de5\u5185\u8033\uff08Cochlear Implant\uff09<\/strong><strong><br><\/strong>\u91cd\u3044\u96e3\u8074\u304c\u3042\u308b\u3068\u304d\u306b\u4f7f\u308f\u308c\u308b\u88c5\u7f6e\u3067\u3001\u5185\u8033\u306b\u76f4\u63a5\u96fb\u6c17\u4fe1\u53f7\u3092\u9001\u3063\u3066\u97f3\u3092\u8133\u306b\u4f1d\u3048\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>NSAIDs\uff08\u975e\u30b9\u30c6\u30ed\u30a4\u30c9\u6027\u6297\u708e\u75c7\u85ac \/ Non-Steroidal Anti-Inflammatory Drugs\uff09<\/strong><strong><br><\/strong>\u71b1\u3084\u708e\u75c7\u3092\u304a\u3055\u3048\u308b\u85ac\u3067\u3059\u3002Bartter\u75c7\u5019\u7fa4\u3067\u306f\u3001\u4f53\u304c\u4f5c\u308a\u3059\u304e\u308b\u30d7\u30ed\u30b9\u30bf\u30b0\u30e9\u30f3\u30b8\u30f3\u3068\u3044\u3046\u7269\u8cea\u3092\u6e1b\u3089\u3059\u76ee\u7684\u3067\u4f7f\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30d7\u30ed\u30b9\u30bf\u30b0\u30e9\u30f3\u30b8\u30f3\uff08Prostaglandin\uff09<\/strong><strong><br><\/strong>\u4f53\u306e\u4e2d\u3067\u4f5c\u3089\u308c\u308b\u7269\u8cea\u3067\u3001\u8840\u7ba1\u3092\u5e83\u3052\u305f\u308a\u3001\u814e\u81d3\u306e\u50cd\u304d\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u305f\u308a\u3057\u307e\u3059\u3002Bartter\u75c7\u5019\u7fa4\u3067\u306f\u4f5c\u3089\u308c\u3059\u304e\u308b\u305f\u3081\u3001\u6cbb\u7642\u3067\u6291\u3048\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u96fb\u89e3\u8cea\uff08Electrolytes\uff09<\/strong><strong><br><\/strong>\u30ca\u30c8\u30ea\u30a6\u30e0\u3084\u30ab\u30ea\u30a6\u30e0\u3001\u30ab\u30eb\u30b7\u30a6\u30e0\u306a\u3069\u3001\u4f53\u306e\u4e2d\u306e\u6c34\u5206\u30d0\u30e9\u30f3\u30b9\u3084\u795e\u7d4c\u30fb\u7b4b\u8089\u306e\u50cd\u304d\u306b\u5fc5\u8981\u306a\u6210\u5206\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6210\u9577\u30db\u30eb\u30e2\u30f3\u7642\u6cd5\uff08Growth Hormone Therapy\uff09<\/strong><strong><br><\/strong>\u80cc\u304c\u4f38\u3073\u306b\u304f\u3044\u5b50\u3069\u3082\u306b\u4f7f\u3046\u6cbb\u7642\u3067\u3059\u3002\u30db\u30eb\u30e2\u30f3\u3092\u88dc\u3046\u3053\u3068\u3067\u6210\u9577\u3092\u52a9\u3051\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>CKD\uff08\u6162\u6027\u814e\u75be\u60a3 \/ Chronic Kidney Disease\uff09<\/strong><br>\u814e\u81d3\u306e\u50cd\u304d\u304c\u5c11\u3057\u305a\u3064\u60aa\u304f\u306a\u3063\u3066\u3044\u304f\u75c5\u6c17\u3002Bartter\u75c7\u5019\u7fa4\u3067\u306f\u3001\u5e74\u9f62\u3068\u3068\u3082\u306bCKD\u306b\u9032\u884c\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/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\/10.3389\/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:\/\/doi.org\/10.3390\/medicina59091638\">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. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.3390\/medicina59091638.<\/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> <strong>17<\/strong>, 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>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, \u81ea\u52d5\u6f5c\u6027\u907a\u4f1d, 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