{"id":112096,"date":"2025-06-13T15:53:40","date_gmt":"2025-06-13T06:53:40","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/"},"modified":"2025-08-22T17:32:48","modified_gmt":"2025-08-22T08:32:48","slug":"atp6v1b1-related-rta-hearing-loss","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/?lang=zh-hans","title":{"rendered":"ATP6V1B1\u76f8\u5173\u8fdc\u4f4d\u578b\u80be\u6027\u5c3f\u7ec6\u7ba1\u6027\u9178\u4e2d\u6bd2\u4e0e\u611f\u97f3\u6027\u542c\u529b\u635f\u5931"},"content":{"rendered":"\n<div style=\"height:20px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u672c\u9875\u9762\u63d0\u4f9b\u4e86\u5173\u4e8e\u4e00\u79cd\u7f55\u89c1\u7684\u9057\u4f20\u6027\u75be\u75c5\u2014\u2014<strong>ATP6V1B1\u76f8\u5173\u8fdc\u4f4d\u578b\u80be\u6027\u5c3f\u7ec6\u7ba1\u6027\u9178\u4e2d\u6bd2\u4e0e\u611f\u97f3\u6027\u542c\u529b\u635f\u5931<\/strong>\u7684\u8be6\u7ec6\u8bf4\u660e\u3002\u8fd9\u79cd\u75be\u75c5\u5bfc\u81f4\u80be\u810f\u65e0\u6cd5\u6709\u6548\u6392\u9664\u4f53\u5185\u7684\u9178\uff0c\u4ece\u800c\u5f15\u53d1\u4ee3\u8c22\u6027\u9178\u4e2d\u6bd2\uff0c\u5f71\u54cd\u751f\u957f\u3001\u9aa8\u9abc\u53ca\u80be\u810f\u529f\u80fd\uff0c\u5e76\u4e14\u4ece\u5c0f\u5f00\u59cb\u51fa\u73b0\u542c\u529b\u4e0b\u964d\u3002<\/p>\n\n\n\n<p>\u6211\u4eec\u5c06\u6db5\u76d6\u75be\u75c5\u7684\u81f4\u75c5\u57fa\u56e0\u3001\u75c7\u72b6\u3001\u8bca\u65ad\u65b9\u6cd5\u3001\u6cbb\u7597\u65b9\u6848\u4ee5\u53ca\u672a\u6765\u7684\u9884\u540e\uff0c\u5185\u5bb9\u65e8\u5728\u5e2e\u52a9\u60a3\u8005\u3001\u5bb6\u5c5e\u4ee5\u53ca\u533b\u52a1\u4eba\u5458\u66f4\u597d\u5730\u7406\u89e3\u8be5\u75c5\u3002<\/p>\n\n\n\n<p>\u5e0c\u671b\u8fd9\u7bc7\u5185\u5bb9\u80fd\u5e2e\u52a9\u60a8\u4e86\u89e3\u5b69\u5b50\u7684\u75c7\u72b6\uff0c\u6216\u8005\u5982\u679c\u60a8\u521a\u521a\u83b7\u5f97\u8bca\u65ad\uff0c\u4e5f\u80fd\u5e26\u6765\u5b89\u6170\u3002<\/p>\n\n\n\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\" 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/?lang=zh-hans\/#%E7%96%BE%E7%97%85%E5%90%8D%E7%A7%B0_%E7%96%BE%E7%97%85\" >\u75be\u75c5\u540d\u79f0 | \u75be\u75c5<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/?lang=zh-hans\/#%E6%A6%82%E8%BF%B0_%E6%A6%82%E8%A6%81\" >\u6982\u8ff0 | \u6982\u8981<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/?lang=zh-hans\/#%E6%B5%81%E8%A1%8C%E7%97%85%E5%AD%A6_%E6%B5%81%E8%A1%8C%E7%97%85%E5%AD%A6\" >\u6d41\u884c\u75c5\u5b66 | \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-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/?lang=zh-hans\/#%E7%97%85%E5%9B%A0_%E7%97%85%E5%9B%A0\" >\u75c5\u56e0 | \u75c5\u56e0<\/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\/atp6v1b1-related-rta-hearing-loss\/?lang=zh-hans\/#%E7%97%87%E7%8A%B6_%E7%97%87%E7%8A%B6\" >\u75c7\u72b6 | \u75c7\u72b6<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/?lang=zh-hans\/#%E6%B2%BB%E7%96%97%E4%B8%8E%E7%AE%A1%E7%90%86_%E6%B2%BB%E7%96%97%E4%B8%8E%E7%AE%A1%E7%90%86\" >\u6cbb\u7597\u4e0e\u7ba1\u7406 | \u6cbb\u7597\u4e0e\u7ba1\u7406<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/?lang=zh-hans\/#%E9%A2%84%E5%90%8E_%E9%A2%84%E5%90%8E\" >\u9884\u540e | \u9884\u540e<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/?lang=zh-hans\/#%E6%9C%89%E7%94%A8%E6%9C%AF%E8%AF%AD_%E6%9C%89%E7%94%A8%E6%9C%AF%E8%AF%AD\" >\u6709\u7528\u672f\u8bed | \u6709\u7528\u672f\u8bed<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\/?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 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%9F%BA%E5%9B%A0%E5%8C%BA%E5%9F%9F_%E7%9B%B8%E5%85%B3%E5%9F%BA%E5%9B%A0%E5%8C%BA%E5%9F%9F\"><\/span><strong>\u57fa\u56e0\u533a\u57df | \u76f8\u5173\u57fa\u56e0\u533a\u57df<\/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>ATP6V1B<\/strong><\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"25\" src=\"\/nipt\/wp-content\/uploads\/2025\/06\/9c102d7d1d3907797b79d919020240c1-1024x25.png\" alt=\"ATP6V1B (ATP6V1B1)\" class=\"wp-image-101320\"\/><\/figure><\/div>\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>&nbsp;<strong>ATP6V1B1<\/strong>\uff08ATPase H+ Transporting V1 Subunit B1\uff09\u4f4d\u4e8e\u4eba\u7c7b\u7b2c2\u53f7\u67d3\u8272\u4f53\u7684\u77ed\u81c2<strong>2p13.3<\/strong>\uff0c\u57fa\u56e0\u957f\u5ea6\u5927\u7ea6\u4e3a93,000\u4e2a\u78b1\u57fa\u5bf9\u3002<\/p>\n\n\n\n<p>\u8be5\u57fa\u56e0\u7f16\u7801\u7684\u662f**\u6db2\u6ce1\u578bH\u207a-ATP\u9176\uff08V-ATPase\uff09**\u7684V1\u57dfB1\u4e9a\u5355\u4f4d\uff0c\u8fd9\u4e2a\u8d28\u5b50\u6cf5\u8d1f\u8d23\u8c03\u8282\u7ec6\u80de\u5185\u5916\u7684\u9178\u78b1\u5e73\u8861\uff0c\u5c24\u5176\u5728\u80be\u810f\u7684\u96c6\u5408\u7ba1\u7ec6\u80de\u548c\u5185\u8033\u7684\u611f\u5149\u7ec6\u80de\u4e2d\u8d77\u7740\u5173\u952e\u4f5c\u7528\uff0c\u8d1f\u8d23\u5c3f\u6db2\u9178\u5316\u548c\u5185\u8033\u6db2\u4f53\u7684pH\u503c\u7ef4\u6301\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_%E7%96%BE%E7%97%85\"><\/span><strong>\u75be\u75c5\u540d\u79f0 | \u75be\u75c5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6b64\u75be\u75c5\u6b63\u5f0f\u540d\u79f0\u4e3a<strong>\u8fdc\u4f4d\u578b\u80be\u6027\u5c3f\u7ec6\u7ba1\u6027\u9178\u4e2d\u6bd2\uff08dRTA\uff09\u4e0e\u611f\u97f3\u6027\u542c\u529b\u635f\u5931\uff08SNHL\uff09<\/strong>\uff0c\u901a\u5e38\u88ab\u79f0\u4e3a<strong>ATP6V1B1\u76f8\u5173\u8fdc\u4f4d\u578b\u80be\u6027\u5c3f\u7ec6\u7ba1\u6027\u9178\u4e2d\u6bd2\u4e0e\u542c\u529b\u635f\u5931<\/strong>\uff0c\u6216<strong>dRTA\u7c7b\u578b1\u6216\u7c7b\u578b2\u4f34\u542c\u529b\u635f\u5931<\/strong>\u3002<\/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%A6%81\"><\/span><strong>\u6982\u8ff0 | \u6982\u8981<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8be5\u75be\u75c5\u7531\u80be\u810f\u5c3f\u7ec6\u7ba1\u65e0\u6cd5\u6709\u6548\u6392\u9664\u9178\u5bfc\u81f4\u6162\u6027\u4ee3\u8c22\u6027\u9178\u4e2d\u6bd2\uff0c\u540c\u65f6\u5185\u8033\u7684pH\u73af\u5883\u5931\u8861\u5bfc\u81f4\u611f\u97f3\u6027\u542c\u529b\u635f\u5931\u3002<\/p>\n\n\n\n<p>\u8be5\u75c5\u75c7\u901a\u5e38\u5728\u5a74\u513f\u671f\u6216\u513f\u7ae5\u671f\u5f00\u59cb\u663e\u73b0\uff0c\u5982\u679c\u4e0d\u53ca\u65f6\u6cbb\u7597\uff0c\u53ef\u80fd\u5f15\u53d1\u751f\u957f\u969c\u788d\u3001\u9aa8\u9abc\u5f02\u5e38\u3001\u80be\u7ed3\u77f3\u53ca\u6162\u6027\u80be\u810f\u75be\u75c5\uff08CKD\uff09\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_%E6%B5%81%E8%A1%8C%E7%97%85%E5%AD%A6\"><\/span><strong>\u6d41\u884c\u75c5\u5b66 | \u6d41\u884c\u75c5\u5b66<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8fd9\u662f\u4e00\u79cd\u975e\u5e38\u7f55\u89c1\u7684\u9057\u4f20\u6027\u75be\u75c5\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f30\u8ba1\u53d1\u751f\u7387<\/strong>\uff1a\u7ea6\u4e3a\u6bcf60\u4e07\u4eba\u4e2d1\u4f8b<br><\/li>\n\n\n\n<li><strong>\u643a\u5e26\u8005\u6bd4\u4f8b<\/strong>\uff1a\u7ea6\u6bcf1.5\u4e07\u4eba\u4e2d\u67091\u4f8b\u643a\u5e26\u8005<br><\/li>\n\n\n\n<li>\u5728\u67d0\u4e9b\u5730\u533a\uff0c\u7531\u4e8e\u4eb2\u5c5e\u5a5a\u914d\u7b49\u539f\u56e0\uff0c\u53d1\u751f\u9891\u7387\u53ef\u80fd\u8f83\u9ad8\u3002\u5168\u7403\u90fd\u6709\u75c5\u4f8b\u62a5\u544a\uff0c\u5c24\u5176\u662f\u513f\u7ae5\u671f\u7684\u8bca\u65ad\u6848\u4f8b\u8f83\u4e3a\u5e38\u89c1\u3002<br><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E5%9B%A0_%E7%97%85%E5%9B%A0\"><\/span><strong>\u75c5\u56e0 | \u75c5\u56e0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6b64\u75be\u75c5\u7684\u4e3b\u8981\u539f\u56e0\u662f<strong>ATP6V1B1<\/strong>\u57fa\u56e0\u7684\u4e24\u79cd\u62f7\u8d1d\u5b58\u5728\u7a81\u53d8\uff08\u5e38\u67d3\u8272\u4f53\u9690\u6027\u9057\u4f20\uff09\u3002<\/p>\n\n\n\n<p><strong>ATP6V1B1<\/strong>\u7f16\u7801V-ATP\u9176\u6cf5\u7684B1\u4e9a\u5355\u4f4d\uff0c\u8be5\u6cf5\u8d1f\u8d23\u5c06\u9178\u5206\u6ccc\u5230\u5c3f\u6db2\u4e2d\u3002\u5f53\u8be5\u57fa\u56e0\u7a81\u53d8\u65f6\uff0c\u6cf5\u65e0\u6cd5\u6b63\u5e38\u5de5\u4f5c\uff0c\u5bfc\u81f4\u4f53\u5185\u9178\u6027\u7269\u8d28\u79ef\u7d2f\u3002<\/p>\n\n\n\n<p>\u6b64\u5916\uff0c\u5185\u8033\u4e2d\u6b64\u6cf5\u4e5f\u6709\u91cd\u8981\u4f5c\u7528\uff0c\u8c03\u8282\u5185\u8033\u6db2\u4f53\u7684\u9178\u78b1\u5e73\u8861\uff0c\u7a81\u53d8\u5bfc\u81f4\u542c\u529b\u4e0b\u964d\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%87%E7%8A%B6_%E7%97%87%E7%8A%B6\"><\/span><strong>\u75c7\u72b6 | \u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8be5\u75c5\u7684\u4e3b\u8981\u75c7\u72b6\u5305\u62ec\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u751f\u957f\u969c\u788d<\/strong>\uff08\u4f53\u91cd\u589e\u957f\u7f13\u6162\uff0c\u8eab\u9ad8\u672a\u8fbe\u5230\u6b63\u5e38\u6c34\u5e73\uff09<br><\/li>\n\n\n\n<li><strong>\u5455\u5410<\/strong>\u3001\u8131\u6c34\u3001\u591a\u5c3f<br><\/li>\n\n\n\n<li><strong>\u4f4e\u94be\u8840\u75c7<\/strong>\uff08\u8840\u6db2\u4e2d\u94be\u542b\u91cf\u4e0d\u8db3\uff09\uff0c\u5bfc\u81f4\u808c\u8089\u65e0\u529b\uff0c\u5076\u5c14\u51fa\u73b0\u9ebb\u75f9<br><\/li>\n\n\n\n<li><strong>\u9aa8\u9abc\u5f02\u5e38<\/strong>\uff1a<br>\n<ul class=\"wp-block-list\">\n<li>\u513f\u7ae5\u671f\u8868\u73b0\u4e3a\u4f5d\u507b\u75c5\uff08\u9aa8\u9abc\u8f6f\u5316\u3001O\u578b\u817f\uff09<br><\/li>\n\n\n\n<li>\u6210\u4eba\u671f\u8868\u73b0\u4e3a\u9aa8\u8f6f\u5316\u75c7\uff08\u9aa8\u75db\uff0c\u6613\u9aa8\u6298\uff09<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u80be\u7ed3\u77f3<\/strong>\u548c<strong>\u80be\u9499\u5316<\/strong>\uff08\u80be\u9499\u6c89\u79ef\uff09<br><\/li>\n\n\n\n<li><strong>\u611f\u97f3\u6027\u542c\u529b\u635f\u5931<\/strong>\uff08\u5e38\u89c1\u4e8e\u53cc\u8033\uff0c\u4ece\u513f\u7ae5\u671f\u5f00\u59cb\u9010\u6e10\u6076\u5316\uff09<br><\/li>\n\n\n\n<li><strong>\u524d\u5ead\u6c34\u7ba1\u6269\u5c55\uff08EVA\uff09<\/strong>\uff0c\u5728\u8bb8\u591a\u60a3\u8005\u4e2d\u5e38\u89c1<br><\/li>\n<\/ul>\n\n\n\n<p><strong>\u68c0\u67e5\u4e0e\u8bca\u65ad | \u68c0\u67e5\u4e0e\u8bca\u65ad<\/strong><strong><br><\/strong> \u51c6\u786e\u7684\u8bca\u65ad\u9700\u8981\u901a\u8fc7\u591a\u9879\u68c0\u67e5\u8fdb\u884c\u786e\u8ba4\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8840\u6db2\u4e0e\u5c3f\u6db2\u68c0\u67e5<\/strong>\uff1a<br>\n<ul class=\"wp-block-list\">\n<li>\u4ee3\u8c22\u6027\u9178\u4e2d\u6bd2\uff08\u8840\u6db2\u5448\u9178\u6027\uff09<br><\/li>\n\n\n\n<li>\u4f4e\u94be\u8840\u75c7<br><\/li>\n\n\n\n<li>\u5c3fpH\u503c\u504f\u9ad8\uff08\u5c3f\u6db2\u672a\u80fd\u6709\u6548\u9178\u5316\uff09<br><\/li>\n\n\n\n<li>\u9ad8\u9499\u5c3f\u3001\u4f4e\u67e0\u6aac\u9178\u5c3f<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u529f\u80fd\u6027\u6d4b\u8bd5<\/strong>\uff1a<br>\n<ul class=\"wp-block-list\">\n<li><strong>\u544b\u585e\u7c73+\u6c1f\u6c2f\u567b\u5428\u8d1f\u8377\u8bd5\u9a8c<\/strong>\uff08\u8bc4\u4f30\u9178\u5316\u5c3f\u80fd\u529b\uff09<br><\/li>\n\n\n\n<li><strong>\u94f5\u76d0\u8d1f\u8377\u8bd5\u9a8c<\/strong>\uff08\u76ee\u524d\u8f83\u5c11\u4f7f\u7528\uff09<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5f71\u50cf\u5b66\u68c0\u67e5<\/strong>\uff1a<br>\n<ul class=\"wp-block-list\">\n<li><strong>\u80be\u810f<\/strong>\uff1a\u8d85\u58f0\u6216CT\u626b\u63cf\u68c0\u67e5\u80be\u7ed3\u77f3\u6216\u9499\u5316\u60c5\u51b5<br><\/li>\n\n\n\n<li><strong>\u8033\u6735<\/strong>\uff1aCT\u6216MRI\u626b\u63cf\u68c0\u67e5\u524d\u5ead\u6c34\u7ba1\u6269\u5c55\uff08EVA\uff09<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u542c\u529b\u6d4b\u8bd5<\/strong>\uff1a<br>\n<ul class=\"wp-block-list\">\n<li><strong>\u542c\u529b\u56fe<\/strong>\uff08\u7eaf\u97f3\u542c\u529b\u6d4b\u8bd5\uff09<br><\/li>\n\n\n\n<li>**\u542c\u6027\u8111\u5e72\u53cd\u5e94\uff08ABR\uff09**\u7b49<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u57fa\u56e0\u68c0\u6d4b<\/strong>\uff1a<br>\n<ul class=\"wp-block-list\">\n<li>\u68c0\u67e5<strong>ATP6V1B1<\/strong>\u57fa\u56e0\u53ca\u76f8\u5173\u57fa\u56e0\uff08\u5982<strong>ATP6V0A4<\/strong>\u3001<strong>SLC4A1<\/strong>\u7b49\uff09\u7684\u7a81\u53d8<br><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>\u786e\u8bca\u75c5\u7406\u7a81\u53d8\u5e76\u4e3a\u5bb6\u65cf\u63d0\u4f9b\u9057\u4f20\u54a8\u8be2<\/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_%E6%B2%BB%E7%96%97%E4%B8%8E%E7%AE%A1%E7%90%86\"><\/span><strong>\u6cbb\u7597\u4e0e\u7ba1\u7406 | \u6cbb\u7597\u4e0e\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>&nbsp;<strong>\u6cbb\u7597\u76ee\u6807<\/strong>\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8c03\u8282\u4f53\u5185\u9178\u78b1\u5e73\u8861<br><\/li>\n\n\n\n<li>\u9884\u9632\u9aa8\u9abc\u548c\u751f\u957f\u95ee\u9898<br><\/li>\n\n\n\n<li>\u4fdd\u62a4\u80be\u529f\u80fd<br><\/li>\n\n\n\n<li>\u652f\u6301\u542c\u529b\u548c\u53d1\u80b2<br><\/li>\n<\/ul>\n\n\n\n<p><strong>\u4e3b\u8981\u6cbb\u7597<\/strong>\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u67e0\u6aac\u9178\u94be<\/strong>\uff08\u7528\u4e8e\u6cbb\u7597\u4f4e\u94be\u8840\u75c7\uff09<br><\/li>\n\n\n\n<li><strong>\u78b3\u9178\u6c22\u94a0<\/strong>\uff08\u5728\u9700\u8981\u65f6\u8054\u5408\u4f7f\u7528\uff09<br>\n<ul class=\"wp-block-list\">\n<li><strong>\u5a74\u5e7c\u513f\u4e0e\u513f\u7ae5<\/strong>\uff1a1.9-3.0 mEq\/kg\/\u65e5<br><\/li>\n\n\n\n<li><strong>\u6210\u4eba<\/strong>\uff1a1-2 mEq\/kg\/\u65e5<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5176\u4ed6\u63aa\u65bd<\/strong>\uff1a<br>\n<ul class=\"wp-block-list\">\n<li>\u4fdd\u6301\u5145\u5206\u6c34\u5206<br><\/li>\n\n\n\n<li>\u4f7f\u7528\u52a9\u542c\u5668\u3001\u4eba\u5de5\u8033\u8717\u548c\u8bed\u8a00\u6cbb\u7597\u6765\u652f\u6301\u542c\u529b\u548c\u53d1\u80b2<br><\/li>\n\n\n\n<li>\u5b9a\u671f\u68c0\u67e5\uff08\u8840\u6db2\u3001\u5c3f\u6db2\u3001\u5f71\u50cf\u5b66\u68c0\u67e5\u3001\u6210\u957f\u548c\u542c\u529b\u8ddf\u8e2a\uff09<br><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 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><\/h2>\n\n\n\n<p>&nbsp;\u5982\u679c\u53ca\u65f6\u8bca\u65ad\u5e76\u8fdb\u884c\u9002\u5f53\u6cbb\u7597\uff0c\u901a\u5e38\u53ef\u5b9e\u73b0\u826f\u597d\u7684\u751f\u957f\u548c\u9aa8\u9abc\u5065\u5eb7\u3002\u7136\u800c\uff0c\u5982\u679c\u4e0d\u6cbb\u7597\uff0c\u53ef\u80fd\u4f1a\u53d1\u5c55\u4e3a\u6162\u6027\u80be\u810f\u75be\u75c5\uff08CKD\uff09\uff0c\u670925-40%\u7684\u60a3\u8005\u6700\u7ec8\u8fdb\u5165CKD III-IV\u671f\u3002<\/p>\n\n\n\n<p>\u542c\u529b\u635f\u5931\u662f\u6e10\u8fdb\u6027\u4e14\u4e0d\u53ef\u9006\u7684\uff0c\u56e0\u6b64\u65e9\u671f\u5e72\u9884\u81f3\u5173\u91cd\u8981\u3002\u6301\u7eed\u7684\u836f\u7269\u6cbb\u7597\u548c\u6cbb\u7597\u5bf9\u9884\u540e\u6709\u91cd\u5927\u5f71\u54cd\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%9C%89%E7%94%A8%E6%9C%AF%E8%AF%AD_%E6%9C%89%E7%94%A8%E6%9C%AF%E8%AF%AD\"><\/span><strong>\u6709\u7528\u672f\u8bed | \u6709\u7528\u672f\u8bed<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u57fa\u56e0\uff08Gene\uff09<\/strong>\uff1a\u4f53\u5185\u201c\u8bbe\u8ba1\u56fe\u201d\uff0c\u5305\u542b\u5173\u4e8e\u8eab\u4f53\u5982\u4f55\u8fd0\u4f5c\u7684\u91cd\u8981\u4fe1\u606f\uff0c\u7531\u7236\u6bcd\u4f20\u7ed9\u5b69\u5b50\u3002<br><\/li>\n\n\n\n<li><strong>\u57fa\u56e0\u7a81\u53d8\uff08Gene Mutation\uff09<\/strong>\uff1a\u57fa\u56e0\u4e2d\u7684\u53d8\u5316\uff0c\u5bfc\u81f4\u65e0\u6cd5\u6b63\u5e38\u5236\u9020\u86cb\u767d\u8d28\uff0c\u4ece\u800c\u5f15\u53d1\u75be\u75c5\u3002<br><\/li>\n\n\n\n<li><strong>ATP6V1B1<\/strong>\uff1a\u4e00\u4e2a\u751f\u6210\u5bf9\u80be\u810f\u548c\u5185\u8033\u529f\u80fd\u81f3\u5173\u91cd\u8981\u7684\u86cb\u767d\u8d28\u7684\u57fa\u56e0\uff0c\u7a81\u53d8\u4f1a\u5f71\u54cd\u9178\u78b1\u5e73\u8861\u548c\u542c\u529b\u3002<br><\/li>\n\n\n\n<li><strong>\u5e38\u67d3\u8272\u4f53\u9690\u6027\u9057\u4f20\uff08Autosomal Recessive Inheritance\uff09<\/strong>\uff1a\u7236\u6bcd\u53cc\u65b9\u90fd\u643a\u5e26\u7a81\u53d8\u57fa\u56e0\u65f6\uff0c\u5b50\u5973\u624d\u4f1a\u8868\u73b0\u51fa\u75c7\u72b6\u3002<br><\/li>\n\n\n\n<li><strong>\u89c6\u7f51\u819c\uff08Retina\uff09<\/strong>\uff1a\u773c\u775b\u5185\u8d1f\u8d23\u611f\u5149\u5e76\u5c06\u4fe1\u53f7\u4f20\u9012\u5230\u5927\u8111\u7684\u90e8\u5206\u3002<br><\/li>\n\n\n\n<li><strong>\u7ea4\u6bdb\uff08Cilia\uff09<\/strong>\uff1a\u7ec6\u80de\u8868\u9762\u7684\u5c0f\u6bdb\u72b6\u7ed3\u6784\uff0c\u5e2e\u52a9\u4f20\u9012\u4fe1\u606f\u6216\u8fd0\u9001\u7269\u8d28\uff0c\u7279\u522b\u662f\u5728\u773c\u775b\u7684\u5149\u53d7\u4f53\u7ec6\u80de\u4e2d\u3002<br><\/li>\n\n\n\n<li><strong>\u8fdc\u4f4d\u578b\u80be\u6027\u5c3f\u7ec6\u7ba1\u6027\u9178\u4e2d\u6bd2\uff08dRTA\uff09<\/strong>\uff1a\u4e00\u79cd\u7531\u4e8e\u80be\u810f\u65e0\u6cd5\u9178\u5316\u5c3f\u6db2\uff0c\u5bfc\u81f4\u4f53\u5185\u9178\u79ef\u805a\u7684\u75be\u75c5\u3002<br><\/li>\n\n\n\n<li><strong>\u611f\u97f3\u6027\u542c\u529b\u635f\u5931<\/strong>\uff1a\u7531\u5185\u8033\u6216\u542c\u89c9\u795e\u7ecf\u53d7\u635f\u5f15\u8d77\u7684\u542c\u529b\u4e27\u5931\u3002<br><\/li>\n\n\n\n<li><strong>\u524d\u5ead\u6c34\u7ba1\u6269\u5c55\uff08EVA\uff09<\/strong>\uff1a\u5185\u8033\u7684\u524d\u5ead\u6c34\u7ba1\u53d8\u5927\uff0c\u662f\u8bb8\u591a\u60a3\u8005\u4e2d\u5e38\u89c1\u7684\u8868\u73b0\u3002<br><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\"><\/span>\u5f15\u7528\u6587\u732e\uff5cReferences<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1007\/s40620-021-01032-y\">Giglio, S., Montini, G., Trepiccione, F. <em>et al.<\/em> Distal renal tubular acidosis: a systematic approach from diagnosis to treatment. <em>J Nephrol<\/em> <strong>34<\/strong>, 2073\u20132083 (2021). https:\/\/doi.org\/10.1007\/s40620-021-01032-y<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1007\/s40620-017-0447-1\">Mohebbi, N., Wagner, C.A. Pathophysiology, diagnosis and treatment of inherited distal renal tubular acidosis. <em>J Nephrol<\/em> <strong>31<\/strong>, 511\u2013522 (2018). https:\/\/doi.org\/10.1007\/s40620-017-0447-1<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.2147\/PHMT.S174459\">Watanabe, T. (2018). Improving outcomes for patients with distal renal tubular acidosis: recent advances and challenges ahead. <em>Pediatric Health, Medicine and Therapeutics<\/em>, <em>9<\/em>, 181\u2013190. https:\/\/doi.org\/10.2147\/PHMT.S174459<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/diseases2020071\">Almomani, Ensaf, et al. \u2018Intercalated Cells: More than pH Regulation\u2019. <em>Diseases<\/em>, vol. 2, no. 2, Apr. 2014, pp. 71\u201392. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.3390\/diseases2020071.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/B978-0-12-812534-2.00011-4\">Pyeritz, Reed E. \u2018Renal Tubular Disorders\u2019. <em>Emery and Rimoin\u2019s Principles and Practice of Medical Genetics and Genomics<\/em>, Elsevier, 2023, pp. 115\u201324. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.1016\/B978-0-12-812534-2.00011-4.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39460617\/\">Perez G, Barber GP, Benet-Pages A, Casper J, Clawson H, Diekhans M, Fischer C, Gonzalez JN, Hinrichs AS, Lee CM, Nassar LR, Raney BJ, Speir ML, van Baren MJ, Vaske CJ, Haussler D, Kent WJ, Haeussler M. The UCSC Genome Browser database: 2025 update. Nucleic Acids Res. 2025 Jan 6;53(D1):D1243-D1249. doi: 10.1093\/nar\/gkae974. PMID: 39460617; PMCID: PMC11701590.<\/a><\/li>\n<\/ul>\n\n\n\n<!-- \u3042\u3044\u3046\u3048\u304a\u304b\u304d\u304f\u3051\u3053\u3055\u3057\u3059\u305b\u305d\u305f\u3061\u3064\u3066\u3068-->\n\n<script type=\"application\/ld+json\">\n{\n  \"@context\": \"https:\/\/schema.org\",\n  \"@type\": \"WebPage\",\n  \"mainEntity\": {\n    \"@type\": \"MedicalCondition\",\n    \"name\": \"ATP6V1B1\u95a2\u9023 \u9060\u4f4d\u578b\u814e\u6027\u5c3f\u7d30\u7ba1\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3068\u611f\u97f3\u6027\u96e3\u8074\",\n    \"alternateName\": \"ATP6V1B1-related distal renal tubular acidosis with sensorineural hearing loss\",\n    \"identifier\": \"https:\/\/www.hiro-clinic.or.jp\/nipt\/atp6v1b1-related-rta-hearing-loss\",\n    \"description\": 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