{"id":122053,"date":"2026-01-08T16:09:25","date_gmt":"2026-01-08T07:09:25","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&p=122053"},"modified":"2026-03-03T13:52:24","modified_gmt":"2026-03-03T04:52:24","slug":"renal-tubular-acidosis-and-deafness-atp6v1b1-related-atp6v1b1","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/renal-tubular-acidosis-and-deafness-atp6v1b1-related-atp6v1b1\/","title":{"rendered":"\u814e\u5c3f\u7d30\u7ba1\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3068\u96e3\u8074\uff08ATP6V1B1\u95a2\u9023\uff09"},"content":{"rendered":"\n

\u6982\u8981<\/strong><\/h2>\n\n\n\n

\u814e\u5c3f\u7d30\u7ba1\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3068\u96e3\u8074\uff08Renal Tubular Acidosis with Deafness\uff09\u306f\u3001\u96c6\u5408\u7ba1\u306e\u9178\u5206\u6ccc\u306b\u95a2\u4e0e\u3059\u308b\u30d7\u30ed\u30c8\u30f3\u30dd\u30f3\u30d7\uff08V\u578bH\u207a-ATPase\uff09\u306e\u69cb\u6210\u56e0\u5b50\u3067\u3042\u308bATP6V1B1\u306e\u6b20\u640d\u306b\u3088\u3063\u3066\u751f\u3058\u308b\u5148\u5929\u6027\u814e\u75be\u60a3\u3067\u3059\u3002\u672c\u75be\u60a3\u306f\u9060\u4f4d\u5c3f\u7d30\u7ba1\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\uff08distal renal tubular acidosis\uff1adRTA\uff09\u306b\u5206\u985e\u3055\u308c\u3001\u814e\u81d3\u3067\u9178\u3092\u5c3f\u4e2d\u306b\u6392\u6cc4\u3067\u304d\u306a\u304f\u306a\u308b\u305f\u3081\u3001\u6162\u6027\u7684\u306a\u4ee3\u8b1d\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3092\u5448\u3057\u307e\u3059\u3002<\/p>\n\n\n\n

ATP6V1B1\u306f\u5185\u8033\u306e\u5185\u30ea\u30f3\u30d1\u6db2\u306e\u9178\u6027\u5ea6\u8abf\u7bc0\u306b\u3082\u95a2\u4e0e\u3057\u3066\u304a\u308a\u3001\u305d\u306e\u969c\u5bb3\u306b\u3088\u308a\u611f\u97f3\u6027\u96e3\u8074\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u672c\u75be\u60a3\u306e\u7279\u5fb4\u3067\u3059\u3002\u4e73\u5e7c\u5150\u671f\u304b\u3089\u6210\u9577\u969c\u5bb3\u3001\u304f\u308b\u75c5\u3001\u53cd\u5fa9\u3059\u308b\u5c3f\u8def\u7d50\u77f3\u3001\u96e3\u8074\u304c\u51fa\u73fe\u3057\u3001\u65e9\u671f\u6cbb\u7642\u3092\u884c\u308f\u306a\u3044\u5834\u5408\u306f\u814e\u6a5f\u80fd\u969c\u5bb3\u304c\u9032\u884c\u3057\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

\u75ab\u5b66<\/strong><\/h2>\n\n\n\n

\u672c\u75be\u60a3\u306f\u6975\u3081\u3066\u7a00\u3067\u3001\u6709\u75c5\u7387\u306f100\u4e07\u4eba\u306b1\u4eba\u672a\u6e80\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u8fd1\u89aa\u5a5a\u306e\u591a\u3044\u5730\u57df\u3067\u5831\u544a\u304c\u591a\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002(PMC)<\/p>\n\n\n\n

\u539f\u56e0<\/strong><\/h2>\n\n\n\n

\u672c\u75be\u60a3\u306fATP6V1B1\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002ATP6V1B1\u907a\u4f1d\u5b50\u306f\u30d2\u30c82\u756a\u67d3\u8272\u4f53\uff082p13\uff09\u306b\u4f4d\u7f6e\u3057\u3001V\u578bH\u207a-ATPase\u306eB1\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002\u3053\u306e\u30dd\u30f3\u30d7\u306f\u96c6\u5408\u7ba1\u9593\u5728\u7d30\u80de\u306b\u304a\u3044\u3066\u5c3f\u4e2d\u3078\u306e\u30d7\u30ed\u30c8\u30f3\u5206\u6ccc\u3092\u62c5\u3063\u3066\u304a\u308a\u3001\u305d\u306e\u6b20\u640d\u306b\u3088\u308a\u5c3f\u306e\u9178\u6027\u5316\u304c\u3067\u304d\u305a\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u304c\u6301\u7d9a\u3057\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

\u907a\u4f1d\u5f62\u5f0f\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3067\u3059\u3002(malacards.org)<\/p>\n\n\n\n

\u75c7\u72b6<\/strong><\/h2>\n\n\n\n

\u814e\u30fb\u4ee3\u8b1d\u7cfb<\/strong><\/h3>\n\n\n\n
    \n
  • \u4ee3\u8b1d\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9<\/li>\n\n\n\n
  • \u4f4e\u30ab\u30ea\u30a6\u30e0\u8840\u75c7<\/li>\n\n\n\n
  • \u6210\u9577\u969c\u5bb3<\/li>\n\n\n\n
  • \u304f\u308b\u75c5<\/li>\n\n\n\n
  • \u5c3f\u8def\u7d50\u77f3<\/li>\n<\/ul>\n\n\n\n

    \u8074\u899a<\/strong><\/h3>\n\n\n\n
      \n
    • \u5148\u5929\u6027\u611f\u97f3\u6027\u96e3\u8074<\/li>\n<\/ul>\n\n\n\n

      \u8a3a\u65ad<\/strong><\/h2>\n\n\n\n
        \n
      1. \u4ee3\u8b1d\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\uff08\u9ad8\u30af\u30ed\u30fc\u30eb\u6027\uff09<\/li>\n\n\n\n
      2. \u5c3fpH\u9ad8\u5024<\/li>\n\n\n\n
      3. \u814e\u77f3\u7070\u5316<\/li>\n\n\n\n
      4. \u907a\u4f1d\u5b50\u8a3a\u65ad\uff08ATP6V1B1\u89e3\u6790\uff09(PMC)<\/li>\n<\/ol>\n\n\n\n

        \u6cbb\u7642<\/strong><\/h2>\n\n\n\n
          \n
        • \u30a2\u30eb\u30ab\u30ea\u88dc\u5145\u7642\u6cd5\uff08\u91cd\u70ad\u9178\u3001\u30af\u30a8\u30f3\u9178\uff09<\/li>\n\n\n\n
        • \u30ab\u30ea\u30a6\u30e0\u88dc\u6b63<\/li>\n\n\n\n
        • \u96e3\u8074\u306b\u5bfe\u3059\u308b\u88dc\u8074\u30fb\u4eba\u5de5\u5185\u8033<\/li>\n\n\n\n
        • \u5b9a\u671f\u814e\u6a5f\u80fd\u30d5\u30a9\u30ed\u30fc<\/li>\n<\/ul>\n\n\n\n

          \u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n

          \u814e\u5c3f\u7d30\u7ba1\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3068\u96e3\u8074 \u2014 \u907a\u4f1d\u5b50\u75be\u60a3\u89e3\u8aac\u30da\u30fc\u30b8\uff08\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\uff09\u3088\u308a\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)
          Karet FE et al. Mutations in ATP6V1B1 cause renal tubular acidosis with deafness. Nat Genet. 1999.(Nature)
          Renal Tubular Acidosis with Deafness \u2014 GeneReviews, PubMed Central.(PMC)
          Renal Tubular Acidosis with Deafness \u2014 Malacards Rare Disease Database.(malacards.org)<\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-122053","genetic-diseases","type-genetic-diseases","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/122053","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/genetic-diseases"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/122053\/revisions"}],"predecessor-version":[{"id":125265,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/122053\/revisions\/125265"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122053"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}