{"id":111918,"date":"2025-06-16T12:12:37","date_gmt":"2025-06-16T03:12:37","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/bartter-syndrome-bsnd-type4a\/"},"modified":"2025-08-22T15:16:06","modified_gmt":"2025-08-22T06:16:06","slug":"bartter-syndrome-bsnd-type4a","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/bartter-syndrome-bsnd-type4a\/?lang=zh-hans","title":{"rendered":"\u5df4\u7279\u7efc\u5408\u75c7\uff08Bartter\u7efc\u5408\u75c7\uff09 IVa\u578b\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_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 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class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bartter-syndrome-bsnd-type4a\/?lang=zh-hans\/#%E7%96%BE%E7%97%85%E5%90%8D%E7%A7%B0\" >\u75be\u75c5\u540d\u79f0<\/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\/?lang=zh-hans\/#%E6%A6%82%E8%BF%B0_%E6%A6%82%E8%A7%88\" >\u6982\u8ff0 | \u6982\u89c8<\/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\/?lang=zh-hans\/#%E6%B5%81%E8%A1%8C%E7%97%85%E5%AD%A6\" >\u6d41\u884c\u75c5\u5b66<\/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\/?lang=zh-hans\/#%E7%97%85%E5%9B%A0\" 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bartter-syndrome-bsnd-type4a\/?lang=zh-hans\/#%E9%A2%84%E5%90%8E_%E9%A2%84%E5%90%8E\" >\u9884\u540e | \u9884\u540e<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bartter-syndrome-bsnd-type4a\/?lang=zh-hans\/#%E5%85%B3%E9%94%AE%E8%AF%8D\" >\u5173\u952e\u8bcd<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bartter-syndrome-bsnd-type4a\/?lang=zh-hans\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\" >\u5f15\u7528\u6587\u732e\uff5cReferences<\/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   \u5df4\u7279\u7efc\u5408\u75c7\uff08Bartter\u7efc\u5408\u75c7\uff09\u662f\u4e00\u79cd\u7f55\u89c1\u7684\u75be\u75c5\uff0c\u8868\u73b0\u4e3a\u80be\u810f\u65e0\u6cd5\u6709\u6548\u5730\u56de\u6536\u4f53\u5185\u7684\u94a0\u548c\u94be\u3002\u672c\u6587\u5c06\u7279\u522b\u8bb2\u89e3\u4e0e\u201cBSND\uff08\u5df4\u7279\u56e0\u5b50\uff09\u57fa\u56e0\u201d\u76f8\u5173\u7684IVa\u578b\u5df4\u7279\u7efc\u5408\u75c7\uff0c\u8be6\u7ec6\u4ecb\u7ecd\u8be5\u75c5\u7684\u75c7\u72b6\u3001\u5a74\u513f\u65f6\u671f\u7684\u8868\u73b0\u3001\u4e0e\u542c\u529b\u635f\u5931\u7684\u5173\u7cfb\u3001\u68c0\u67e5\u548c\u6cbb\u7597\u65b9\u6cd5\uff0c\u4ee5\u53ca\u672a\u6765\u7684\u9884\u540e\u3002\n\n  <\/p>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%97%E4%BC%A0%E5%9F%BA%E5%9B%A0%E5%8C%BA%E5%9F%9F_%E7%9B%B8%E5%85%B3%E5%9F%BA%E5%9B%A0\"><\/span><strong>\u9057\u4f20\u57fa\u56e0\u533a\u57df | \u76f8\u5173\u57fa\u56e0<\/strong><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\uff08\u5df4\u7279\u56e0\u5b50 CLCNK\u578b\u8f85\u52a9\u4e9a\u5355\u4f4d\u03b2\uff09\u57fa\u56e0\u4f4d\u4e8e\u4eba\u7c7b\u7b2c1\u53f7\u67d3\u8272\u4f53\u7684p32.3\u533a\u57df\u3002\u8be5\u57fa\u56e0\u662f\u5236\u9020\u5df4\u7279\u56e0\u5b50\uff08Barttin\uff09\u86cb\u767d\u8d28\u7684\u8bbe\u8ba1\u56fe\u3002\u5df4\u7279\u56e0\u5b50\u662fClC-Ka\uff08\u7531CLCNKA\u57fa\u56e0\u5236\u9020\uff09\u548cClC-Kb\uff08\u7531CLCNKB\u57fa\u56e0\u5236\u9020\uff09\u6c2f\u79bb\u5b50\u901a\u9053\u7684\u8f85\u52a9\u4e9a\u5355\u4f4d\u3002<\/p>\n\n\n\n<p>\u8fd9\u4e9b\u901a\u9053\u4f4d\u4e8e\u80be\u810f\u7684\u4ea8\u6c0f\u73af\u4e0a\u884c\u80a2\uff08Henle\u73af\u7684thick ascending limb\uff09\u548c\u5185\u8033\u7684\u94be\u5206\u6ccc\u4e0a\u76ae\u4e2d\u3002\u5f53BSND\u57fa\u56e0\u51fa\u73b0\u7a81\u53d8\u65f6\uff0c\u901a\u9053\u529f\u80fd\u53d7\u5230\u963b\u788d\uff0c\u5bfc\u81f4\u80be\u810f\u7684\u94a0\u56de\u5438\u6536\u969c\u788d\u548c\u611f\u97f3\u6027\u542c\u529b\u4e27\u5931\uff0c\u540e\u8005\u662f\u7531\u4e8e\u5185\u8033\u7684\u7f3a\u9677\u9020\u6210\u7684\u542c\u529b\u95ee\u9898\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E7%97%85%E5%90%8D%E7%A7%B0\"><\/span><strong>\u75be\u75c5\u540d\u79f0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8fd9\u79cd\u75c5\u75c7\u5728\u533b\u5b66\u4e0a\u79f0\u4e3a\u5df4\u7279\u7efc\u5408\u75c7IVa\u578b\uff08Bartter Syndrome Type IVa\uff09\u3002\u4e5f\u79f0\u4e3a\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4f34\u6709\u611f\u97f3\u6027\u542c\u529b\u4e27\u5931\u7684\u5a74\u513f\u578b\u5df4\u7279\u7efc\u5408\u75c7\uff08Infantile Bartter Syndrome with Sensorineural Deafness\uff09<br><\/li>\n<\/ul>\n\n\n\n<p>DFNB73\uff08\u81ea\u9690\u6027\u9057\u4f20\u7684\u7b2c73\u578b\u542c\u529b\u4e27\u5931\uff09<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A6%82%E8%BF%B0_%E6%A6%82%E8%A7%88\"><\/span><strong>\u6982\u8ff0 | \u6982\u89c8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5df4\u7279\u7efc\u5408\u75c7\uff08Bartter\u7efc\u5408\u75c7\uff09\u662f\u4e00\u7ec4\u7531\u80be\u810f\u4ea8\u6c0f\u73af\u90e8\u5206\u529f\u80fd\u5f02\u5e38\u5f15\u8d77\u7684\u7f55\u89c1\u9057\u4f20\u6027\u75be\u75c5\u3002IVa\u578b\u662f\u7531BSND\u57fa\u56e0\u7a81\u53d8\u5f15\u8d77\u7684\uff0c\u9664\u4e86\u80be\u810f\u7684\u94a0\u56de\u5438\u6536\u969c\u788d\u5916\uff0c\u8fd8\u5177\u6709\u611f\u97f3\u6027\u542c\u529b\u4e27\u5931\u7684\u7279\u70b9\u3002<\/p>\n\n\n\n<p>\u5728IVa\u578b\u4e2d\uff0c\u5df4\u7279\u56e0\u5b50\u86cb\u767d\u8d77\u7740\u5173\u952e\u4f5c\u7528\u3002\u5982\u679c\u5df4\u7279\u56e0\u5b50\u529f\u80fd\u4e0d\u6b63\u5e38\uff0c\u80be\u810f\u65e0\u6cd5\u8c03\u8282\u94a0\u7684\u56de\u6536\uff0c\u5bfc\u81f4\u4f53\u6db2\u4e0d\u5e73\u8861\u3002\u540c\u65f6\uff0c\u7531\u4e8e\u5185\u8033\u4e5f\u9700\u8981\u8be5\u86cb\u767d\uff0c\u542c\u529b\u969c\u788d\u4e5f\u968f\u4e4b\u53d1\u751f\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B5%81%E8%A1%8C%E7%97%85%E5%AD%A6\"><\/span><strong>\u6d41\u884c\u75c5\u5b66<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5df4\u7279\u7efc\u5408\u75c7\u662f\u4e00\u79cd\u6781\u4e3a\u7f55\u89c1\u7684\u75c5\u75c7\uff0c\u53d1\u75c5\u9891\u7387\u5927\u7ea6\u4e3a\u6bcf10\u4e07\u4eba1\u4eba\u3002IVa\u578b\u662f\u5176\u4e2d\u66f4\u4e3a\u7f55\u89c1\u7684\u7c7b\u578b\u3002\u5728\u4e2d\u5357\u7f8e\u6d32\uff08\u54e5\u65af\u8fbe\u9ece\u52a0\uff09\u548c\u4e2d\u4e1c\uff08\u79d1\u5a01\u7279\uff09\u7b49\u5730\u533a\uff0c\u8fd9\u79cd\u75c5\u7684\u53d1\u75c5\u7387\u8f83\u9ad8\u3002\u8fd1\u4eb2\u5a5a\u914d\u4f1a\u589e\u52a0\u53d1\u75c5\u7684\u98ce\u9669\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E5%9B%A0\"><\/span><strong>\u75c5\u56e0 <\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8fd9\u79cd\u75c5\u7684\u539f\u56e0\u662fBSND\u57fa\u56e0\u7684\u7a81\u53d8\uff0c\u901a\u5e38\u901a\u8fc7\u7236\u6bcd\u9057\u4f20\u3002BSND\u57fa\u56e0\u4e0d\u80fd\u6b63\u5e38\u5de5\u4f5c\u65f6\uff0c\u5df4\u7279\u56e0\u5b50\u4e0d\u80fd\u6b63\u5e38\u751f\u6210\uff0cClC-Ka\u548cClC-Kb\u6c2f\u79bb\u5b50\u901a\u9053\u7684\u529f\u80fd\u88ab\u5e72\u6270\uff0c\u5bfc\u81f4\u80be\u810f\u548c\u5185\u8033\u7684\u901a\u9053\u65e0\u6cd5\u6b63\u5e38\u914d\u7f6e\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%87%E7%8A%B6\"><\/span><strong>\u75c7\u72b6 <\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u598a\u5a20\u671f\u6216\u65b0\u751f\u513f\u671f\u7684\u75c7\u72b6\uff1a<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7f8a\u6c34\u8fc7\u591a\uff08\u80ce\u513f\u5728\u5b50\u5bab\u5185\u4ea7\u751f\u8fc7\u591a\u5c3f\u6db2\uff0c\u5bfc\u81f4\u7f8a\u6c34\u91cf\u5f02\u5e38\u589e\u52a0\uff0c\u901a\u5e38\u5728\u598a\u5a2022\u81f328\u5468\u4e4b\u95f4\u89c2\u5bdf\u5230\uff09<br><\/li>\n\n\n\n<li>\u65e9\u4ea7<br><\/li>\n\n\n\n<li>\u4f4e\u51fa\u751f\u4f53\u91cd<br><\/li>\n\n\n\n<li>\u51fa\u751f\u540e\u51fa\u73b0\u8131\u6c34\u75c7\u72b6\u548c\u751f\u957f\u53d1\u80b2\u8fdf\u7f13<br><\/li>\n\n\n\n<li>\u4e25\u91cd\u7684\u5c3f\u91cf\u589e\u52a0<br><\/li>\n\n\n\n<li>\u7535\u89e3\u8d28\u5f02\u5e38\uff08\u5c24\u5176\u662f\u94be\u548c\u6c2f\u5316\u7269\u7f3a\u4e4f\uff09<br><\/li>\n\n\n\n<li>\u53cc\u4fa7\u611f\u97f3\u6027\u542c\u529b\u4e27\u5931<br><\/li>\n<\/ul>\n\n\n\n<p><strong>\u5e7c\u513f\u671f\u548c\u5b66\u9f84\u671f\u7684\u75c7\u72b6\uff1a<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6162\u6027\u4f4e\u94be\u8840\u75c7\u5bfc\u81f4\u808c\u529b\u4e0b\u964d\u3001\u62bd\u6410\u548c\u6076\u5fc3<br><\/li>\n\n\n\n<li>\u4fbf\u79d8\uff0c\u5f3a\u70c8\u7684\u98df\u76d0\u9700\u6c42<br><\/li>\n\n\n\n<li>\u751f\u957f\u8fdf\u7f13\uff08\u8eab\u9ad8\u4f4e\uff0c\u9752\u6625\u671f\u8fdf\u7f13\uff09<br><\/li>\n\n\n\n<li>\u808c\u5f20\u529b\u4e0b\u964d\u6216\u8fd0\u52a8\u53d1\u5c55\u8fdf\u7f13<br><\/li>\n\n\n\n<li>\u53ef\u80fd\u51fa\u73b0\u9762\u90e8\u7279\u5f81\uff08\u5c16\u4e0b\u5df4\u3001\u4e0b\u5782\u5634\u89d2\u3001\u5927\u8033\u6735<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A3%80%E6%9F%A5%E5%92%8C%E8%AF%8A%E6%96%AD\"><\/span><strong>\u68c0\u67e5\u548c\u8bca\u65ad<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u8840\u6db2\u548c\u5c3f\u6db2\u68c0\u67e5\uff1a<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4f4e\u94be\uff08K\u207a\uff09\u503c\uff08\u901a\u5e38\u5c11\u4e8e3 mmol\/L\uff09<br><\/li>\n\n\n\n<li>\u4f4e\u6c2f\uff08Cl\u207b\uff09\u503c<br><\/li>\n\n\n\n<li>\u4ee3\u8c22\u6027\u78b1\u4e2d\u6bd2<br><\/li>\n\n\n\n<li>\u8840\u6db2\u4e2d\u7684\u80be\u7d20\u548c\u919b\u56fa\u916e\u589e\u52a0<br><\/li>\n\n\n\n<li>\u5c3f\u6db2\u4e2d\u94a0\u548c\u9499\u8fc7\u591a<br><\/li>\n<\/ul>\n\n\n\n<p><strong>\u542c\u529b\u6d4b\u8bd5\uff1a<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>OAE\uff08\u8033\u58f0\u53d1\u5c04\u68c0\u67e5\uff09\uff1a\u7528\u4e8e\u68c0\u67e5\u5185\u8033\u5916\u6bdb\u7ec6\u80de\u7684\u529f\u80fd<br><\/li>\n\n\n\n<li>BERA\uff08\u8111\u5e72\u542c\u89c9\u53cd\u5e94\uff09\uff1a\u68c0\u67e5\u58f0\u97f3\u662f\u5426\u5230\u8fbe\u5927\u8111<br><\/li>\n\n\n\n<li>ASSR\uff08\u542c\u89c9\u7a33\u6001\u53cd\u5e94\uff09\uff1a\u7528\u4e8e\u68c0\u67e5\u542c\u529b\u7684\u7a0b\u5ea6<br><\/li>\n<\/ul>\n\n\n\n<p><strong>\u57fa\u56e0\u6d4b\u8bd5\uff1a<\/strong><strong><br><\/strong> \u63a8\u8350\u8fdb\u884c\u5305\u542bBSND\u57fa\u56e0\u7684\u57fa\u56e0\u9762\u677f\u68c0\u67e5\u3002<\/p>\n\n\n\n<p><strong>\u51fa\u751f\u524d\u8bca\u65ad\uff1a<\/strong><strong><br><\/strong> \u901a\u8fc7\u7f8a\u6c34\u68c0\u67e5\u8fdb\u884c\u57fa\u56e0\u5f02\u5e38\u68c0\u6d4b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%96%97%E4%B8%8E%E7%AE%A1%E7%90%86\"><\/span><strong>\u6cbb\u7597\u4e0e\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u598a\u5a20\u671f\u7ba1\u7406\uff1a<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7f8a\u6c34\u91cf\u51cf\u5c11\uff08\u4f7f\u7528\u836f\u7269\u5982\u5432\u54da\u7f8e\u8f9b\u6765\u51cf\u5c11\u7f8a\u6c34\u91cf\uff0c\u4f46\u9700\u8c28\u614e\u4f7f\u7528\uff0c\u56e0\u4e3a\u53ef\u80fd\u5bf9\u80ce\u513f\u5fc3\u810f\u4ea7\u751f\u5f71\u54cd\uff09<br><\/li>\n<\/ul>\n\n\n\n<p><strong>\u51fa\u751f\u540e\u548c\u957f\u671f\u6cbb\u7597\uff1a<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7535\u89e3\u8d28\u8865\u5145\uff1a\u94a0\u6c2f\u548c\u94be\u6c2f\u7684\u8865\u5145<br><\/li>\n\n\n\n<li>\u836f\u7269\u6cbb\u7597\uff1a\u4f7f\u7528NSAIDs\uff08\u5982\u5432\u54da\u7f8e\u8f9b\uff09\u51cf\u5c11\u80be\u810f\u76d0\u5206\u4e27\u5931\uff0c\u4f7f\u7528\u94be\u4fdd\u6301\u6027\u5229\u5c3f\u836f\uff08\u5982\u87ba\u5185\u916f\u3001\u6c28\u82ef\u8776\u5576\uff09<br><\/li>\n\n\n\n<li>\u542c\u529b\u652f\u6301\uff1a\u4f7f\u7528\u52a9\u542c\u5668\u6216\u4eba\u5de5\u8033\u8717<br><\/li>\n\n\n\n<li>\u8bed\u8a00\u6cbb\u7597\u548c\u4f5c\u4e1a\u6cbb\u7597<br><\/li>\n<\/ul>\n\n\n\n<p><strong>\u751f\u957f\u652f\u6301\uff1a<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u751f\u957f\u6fc0\u7d20\u6cbb\u7597\uff1a\u7528\u4e8e\u8eab\u9ad8\u6301\u7eed\u4f4e\u7684\u5b69\u5b50\u3002<br><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%A2%84%E5%90%8E_%E9%A2%84%E5%90%8E\"><\/span><strong>\u9884\u540e | \u9884\u540e<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u542c\u529b\u635f\u5931\u662f\u4e0d\u53ef\u9006\u7684\uff0c\u4f46\u901a\u8fc7\u65e9\u671f\u7684\u542c\u529b\u8f85\u52a9\u8bbe\u5907\u548c\u6559\u80b2\uff0c\u53ef\u4ee5\u663e\u8457\u6539\u5584\u8bed\u8a00\u53d1\u80b2\u548c\u751f\u6d3b\u8d28\u91cf\u3002<br><\/li>\n\n\n\n<li>\u80be\u529f\u80fd\uff1a\u53ef\u80fd\u4f1a\u53d1\u5c55\u4e3a\u6162\u6027\u80be\u810f\u75c5\uff08CKD\uff09\u3002<br><\/li>\n\n\n\n<li>\u9002\u5f53\u7684\u8865\u5145\u548c\u6fc0\u7d20\u6cbb\u7597\u53ef\u4ee5\u5e2e\u52a9\u5b69\u5b50\u4eec\u589e\u52a0\u8eab\u9ad8\uff0c\u4f46\u7ea640%\u7684\u60a3\u8005\u53ef\u80fd\u6301\u7eed\u4f4e\u8eab\u9ad8\u3002<br><\/li>\n\n\n\n<li>\u5bff\u547d\uff1a\u5982\u679c\u83b7\u5f97\u8db3\u591f\u7684\u6cbb\u7597\u548c\u7ba1\u7406\uff0c\u60a3\u8005\u53ef\u4ee5\u8fc7\u4e0a\u6b63\u5e38\u751f\u6d3b\u3002<br><\/li>\n<\/ul>\n\n\n\n<p>\u751f\u6d3b\u8d28\u91cf\uff1a\u4e0e\u5bb6\u5ead\u548c\u533b\u7597\u56e2\u961f\u7684\u5408\u4f5c\u6709\u52a9\u4e8e\u663e\u8457\u6539\u5584\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%85%B3%E9%94%AE%E8%AF%8D\"><\/span><strong>\u5173\u952e\u8bcd<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Bartter\u75c7\u5019\u7fa4\uff0cBSND\uff0c\u5df4\u7279\u56e0\u5b50\uff0c\u611f\u97f3\u6027\u542c\u529b\u4e27\u5931\uff0c\u6c2f\u5316\u7269\u901a\u9053\uff0c\u4f4e\u94be\u8840\u75c7\uff0c\u4ee3\u8c22\u6027\u78b1\u4e2d\u6bd2\uff0c\u6162\u6027\u80be\u75c5\uff0c\u76d0\u5206\u4e27\u5931\u6027\u5c3f\u7ec6\u7ba1\u75c5\uff0c\u7f8a\u6c34\u8fc7\u591a\uff0c\u5432\u54da\u7f8e\u8f9b\uff0c\u7535\u89e3\u8d28\u5f02\u5e38\uff0c\u9057\u4f20\u68c0\u6d4b\uff0c\u4f4e\u8eab\u9ad8\uff0c\u94be\u4fdd\u6301\u6027\u5229\u5c3f\u836f\uff0c\u52a9\u542c\u5668\uff0c\u8bed\u8a00\u6cbb\u7597\uff0c\u81ea\u52a8\u52a3\u6027\u9057\u4f20\uff0c\u6162\u6027\u80be\u810f\u75be\u75c5\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\"><\/span>\u5f15\u7528\u6587\u732e\uff5cReferences<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.3389\/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<!-- \u3042\u3044\u3046\u3048\u304a\u304b\u304d\u304f\u3051\u3053\u3055\u3057\u3059\u305b\u305d\u305f\u3061\u3064\u3066\u3068-->\n\n<script type=\"application\/ld+json\">\n{\n  \"@context\": \"https:\/\/schema.org\",\n  \"@graph\": [\n    {\n      \"@type\": \"WebPage\",\n      \"@id\": \"https:\/\/www.hiro-clinic.or.jp\/nipt\/bartter-syndrome-bsnd-type4a\",\n      \"url\": \"https:\/\/www.hiro-clinic.or.jp\/nipt\/bartter-syndrome-bsnd-type4a\",\n      \"name\": \"Bartter\u75c7\u5019\u7fa4\uff08BSND\u95a2\u9023\uff09\u306e\u75c7\u72b6\u3068\u6cbb\u7642\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\",\n      \"inLanguage\": \"ja\",\n      \"description\": 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