{"id":60288,"date":"2023-08-25T10:00:59","date_gmt":"2023-08-25T01:00:59","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=60288"},"modified":"2026-05-08T13:27:00","modified_gmt":"2026-05-08T04:27:00","slug":"congenital-renal-urinary-stones","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-renal-urinary-stones\/","title":{"rendered":"\u5148\u5929\u6027\u814e\u6027\u5c3f\u5d29\u75c7"},"content":{"rendered":"\n<div style=\"height:30px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><sup>\u814e\u6027\u5c3f\u5d29\u75c7\uff08NDI\uff09\u306f\u3001\u814e\u81d3\u304c\u6297\u5229\u5c3f\u30db\u30eb\u30e2\u30f3\uff08AVP\uff09\u306b\u9069\u5207\u306b\u5fdc\u7b54\u3067\u304d\u306a\u3044\u3053\u3068\u3067\u767a\u75c7\u3059\u308b\u75be\u60a3\u3067\u3059\u3002\u7279\u306bAQP2\u907a\u4f1d\u5b50\u5909\u7570\u304c\u95a2\u4e0e\u3059\u308b\u5bb6\u65cf\u6027\u814e\u6027\u5c3f\u5d29\u75c7\u306f\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u307e\u305f\u306f\u512a\u6027\u306e\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308a\u3001\u4e73\u5e7c\u5150\u671f\u304b\u3089\u591a\u5c3f\u3084\u8131\u6c34\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001AQP2\u95a2\u9023NDI\u306e\u75c5\u614b\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6700\u65b0\u306e\u6cbb\u7642\u6cd5\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u907a\u4f1d\u5b50\u30fb\u75be\u60a3\u540d<\/h2>\n\n\n\n<p>AQP2\uff5cFamilial Nephrogenic Diabetes Insipidus (AQP2-related)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u5bb6\u65cf\u6027\u814e\u6027\u5c3f\u5d29\u75c7\uff08AQP2\u95a2\u9023\uff09\u306f\u3001\u814e\u96c6\u5408\u7ba1\u306e\u6c34\u518d\u5438\u53ce\u306b\u95a2\u4e0e\u3059\u308b\u6c34\u30c1\u30e3\u30cd\u30eb\u30bf\u30f3\u30d1\u30af\u8cea\u300c\u30a2\u30af\u30a2\u30dd\u30ea\u30f3-2\uff08AQP2\uff09\u300d\u306e\u907a\u4f1d\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u7a00\u306a\u75be\u60a3\u3067\u3042\u308b\u3002\u672c\u75be\u60a3\u306f\u6297\u5229\u5c3f\u30db\u30eb\u30e2\u30f3\u3067\u3042\u308b\u30a2\u30eb\u30ae\u30cb\u30f3\u30d0\u30bd\u30d7\u30ec\u30b7\u30f3\uff08AVP\uff09\u306b\u5bfe\u3059\u308b\u814e\u5c3f\u7d30\u7ba1\u306e\u5fdc\u7b54\u4e0d\u5168\u306b\u3088\u308a\u3001\u5c3f\u3092\u6fc3\u7e2e\u3059\u308b\u80fd\u529b\u304c\u5931\u308f\u308c\u3001\u5927\u91cf\u306e\u4f4e\u5f35\u5c3f\u304c\u6392\u6cc4\u3055\u308c\u308b\u3002\u907a\u4f1d\u5f62\u5f0f\u306b\u306f\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u304a\u3088\u3073\u5e38\u67d3\u8272\u4f53\u512a\u6027\u306e\u4e21\u65b9\u304c\u3042\u308a\u3001\u524d\u8005\u3067\u306f\u6a5f\u80fd\u7684\u306aAQP2\u306e\u6b20\u640d\u3001\u5f8c\u8005\u3067\u306f\u5909\u7570AQP2\u304c\u6b63\u5e38AQP2\u3068\u8907\u5408\u4f53\u3092\u5f62\u6210\u3057\u3001\u7d30\u80de\u5185\u306e\u7570\u5e38\u306a\u5c40\u5728\u3092\u5f15\u304d\u8d77\u3053\u3059\u3002<\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306e\u4e3b\u306a\u81e8\u5e8a\u75c7\u72b6\u306f\u591a\u5c3f\uff08polyuria\uff09\u3001\u53e3\u6e07\u306b\u3088\u308b\u591a\u98f2\uff08polydipsia\uff09\u3001\u6162\u6027\u7684\u306a\u8131\u6c34\u3001\u306a\u3089\u3073\u306b\u9ad8\u30ca\u30c8\u30ea\u30a6\u30e0\u8840\u75c7\uff08hypernatremia\uff09\u3067\u3042\u308b\u3002\u8a3a\u65ad\u306f\u6c34\u5236\u9650\u8a66\u9a13\u3084\u5916\u56e0\u6027\u30d0\u30bd\u30d7\u30ec\u30b7\u30f3\u6295\u4e0e\u5f8c\u306e\u5c3f\u6d78\u900f\u5727\u7570\u5e38\u306b\u3088\u3063\u3066\u884c\u308f\u308c\u308b\u3002\u6cbb\u7642\u6cd5\u3068\u3057\u3066\u306f\u3001\u5341\u5206\u306a\u6c34\u5206\u6442\u53d6\u306e\u78ba\u4fdd\u3068\u3068\u3082\u306b\u3001\u30c1\u30a2\u30b8\u30c9\u7cfb\u5229\u5c3f\u85ac\u3001\u975e\u30b9\u30c6\u30ed\u30a4\u30c9\u6027\u6297\u708e\u75c7\u85ac\uff08NSAIDs\uff09\u3001\u4f4e\u30ca\u30c8\u30ea\u30a6\u30e0\u30fb\u4f4e\u30bf\u30f3\u30d1\u30af\u98df\u306a\u3069\u306e\u85ac\u7406\u5b66\u7684\u30fb\u98df\u4e8b\u7642\u6cd5\u304c\u7528\u3044\u3089\u308c\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>\u814e\u6027\u5c3f\u5d29\u75c7\uff08NDI\uff09\u306e\u907a\u4f1d\u7684\u8981\u56e0\u306f\u3001X\u67d3\u8272\u4f53\u4e0a\u306eAVPR2\u907a\u4f1d\u5b50\u5909\u7570\u306b\u3088\u308bX\u9023\u9396\u6027\u6f5c\u6027\u907a\u4f1d\u304c90%\u3092\u5360\u3081\u3001\u6b8b\u308a\u306e10%\u304cAQP2\u907a\u4f1d\u5b50\u5909\u7570\u306b\u3088\u308b\u5e38\u67d3\u8272\u4f53\u6027\u306e\u907a\u4f1d\u5f62\u5f0f\u3067\u3042\u308b\u3002AQP2\u95a2\u9023NDI\u306f\u3001\u7537\u5973\u3068\u3082\u306b\u767a\u75c7\u3059\u308b\u304c\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u578b\u3067\u306f\u4e21\u89aa\u304b\u3089\u306e\u5909\u7570\u907a\u4f1d\u5b50\u306e\u907a\u4f1d\u304c\u5fc5\u8981\u3067\u3042\u308a\u3001\u5e38\u67d3\u8272\u4f53\u512a\u6027\u578b\u306f\u7247\u65b9\u306e\u30a2\u30ec\u30eb\u306e\u307f\u306e\u5909\u7570\u3067\u767a\u75c7\u3059\u308b\u3002\u767a\u75c7\u983b\u5ea6\u306f\u7a00\u3067\u3042\u308a\u3001\u65b0\u751f\u5150100\u4e07\u4eba\u3042\u305f\u308a4\u4f8b\u7a0b\u5ea6\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>AQP2\u907a\u4f1d\u5b50\u306f\u814e\u96c6\u5408\u7ba1\u306b\u304a\u3051\u308b\u6c34\u306e\u900f\u904e\u6027\u3092\u8abf\u7bc0\u3059\u308b\u6c34\u30c1\u30e3\u30cd\u30eb\u30a2\u30af\u30a2\u30dd\u30ea\u30f3-2\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u3053\u306e\u6a5f\u80fd\u304c\u640d\u306a\u308f\u308c\u308b\u3053\u3068\u3067\u814e\u5c3f\u7d30\u7ba1\u304cAVP\u306b\u5fdc\u7b54\u3067\u304d\u306a\u304f\u306a\u308b\u3002\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u578b\u3067\u306f\u3001AQP2\u306e\u69cb\u9020\u7570\u5e38\u306b\u3088\u308a\u6a5f\u80fd\u7684\u306a\u6c34\u30c1\u30e3\u30cd\u30eb\u304c\u5f62\u6210\u3055\u308c\u305a\u3001\u5c0f\u80de\u4f53\u3067\u306e\u8aa4\u30d5\u30a9\u30fc\u30eb\u30c7\u30a3\u30f3\u30b0\u306b\u3088\u308b\u5206\u89e3\u304c\u4fc3\u9032\u3055\u308c\u308b\u3002\u4e00\u65b9\u3001\u5e38\u67d3\u8272\u4f53\u512a\u6027\u578b\u3067\u306f\u3001\u5909\u7570AQP2\u304c\u6b63\u5e38AQP2\u3068\u30d8\u30c6\u30ed\u30c6\u30c8\u30e9\u30de\u30fc\u3092\u5f62\u6210\u3057\u3001\u9069\u5207\u306a\u7d30\u80de\u5c40\u5728\u304c\u963b\u5bb3\u3055\u308c\u308b\u3053\u3068\u304c\u4e3b\u306a\u75c5\u614b\u30e1\u30ab\u30cb\u30ba\u30e0\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>\u672c\u75be\u60a3\u306e\u4e3b\u306a\u81e8\u5e8a\u75c7\u72b6\u306f\u4ee5\u4e0b\u306e\u901a\u308a\u3067\u3042\u308b\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u591a\u5c3f\uff08polyuria\uff09<\/strong>\uff1a1\u65e5\u3042\u305f\u308a\u306e\u5c3f\u91cf\u304c\u6210\u4eba\u306710\u301c15L\u3001\u5c0f\u5150\u30674\u301c10L\u306b\u9054\u3059\u308b\u3053\u3068\u304c\u3042\u308b\u3002<\/li>\n\n\n\n<li><strong>\u591a\u98f2\uff08polydipsia\uff09<\/strong>\uff1a\u53e3\u6e07\u611f\u306b\u3088\u308a\u5927\u91cf\u306e\u6c34\u5206\u6442\u53d6\u304c\u5fc5\u8981\u3002<\/li>\n\n\n\n<li><strong>\u6162\u6027\u8131\u6c34\uff08chronic dehydration\uff09<\/strong>\uff1a\u6c34\u5206\u88dc\u7d66\u304c\u4e0d\u5341\u5206\u306a\u5834\u5408\u3001\u9ad8\u30ca\u30c8\u30ea\u30a6\u30e0\u8840\u75c7\u3068\u91cd\u7be4\u306a\u8131\u6c34\u3092\u4f34\u3046\u3002<\/li>\n\n\n\n<li><strong>\u6210\u9577\u969c\u5bb3\uff08growth retardation\uff09<\/strong>\uff1a\u5e7c\u5c11\u671f\u306b\u5341\u5206\u306a\u6804\u990a\u3068\u6c34\u5206\u3092\u78ba\u4fdd\u3067\u304d\u306a\u3044\u5834\u5408\u306b\u767a\u751f\u3002<\/li>\n\n\n\n<li><strong>\u9ad8\u30ca\u30c8\u30ea\u30a6\u30e0\u8840\u75c7\uff08hypernatremia\uff09<\/strong>\uff1a\u8840\u6e05\u30ca\u30c8\u30ea\u30a6\u30e0\u6fc3\u5ea6\u304c150mmol\/L\u3092\u8d85\u3048\u308b\u5834\u5408\u304c\u3042\u308b\u3002<\/li>\n\n\n\n<li><strong>\u591c\u9593\u983b\u5c3f\u30fb\u591c\u5c3f\u75c7\uff08nocturia, enuresis\uff09<\/strong>\uff1a\u591c\u9593\u306e\u5c3f\u91cf\u5897\u52a0\u306b\u3088\u308a\u7761\u7720\u304c\u59a8\u3052\u3089\u308c\u308b\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n\n\n\n<p>\u8a3a\u65ad\u306b\u306f\u4ee5\u4e0b\u306e\u691c\u67fb\u304c\u7528\u3044\u3089\u308c\u308b\uff1a<\/p>\n\n\n\n<ol start=\"1\" class=\"wp-block-list\">\n<li><strong>\u5c3f\u6d78\u900f\u5727\u6e2c\u5b9a<\/strong>\uff1a\u6c34\u5236\u9650\u8a66\u9a13\u307e\u305f\u306f\u5916\u56e0\u6027\u30d0\u30bd\u30d7\u30ec\u30b7\u30f3\u6295\u4e0e\u5f8c\u306b\u5c3f\u6d78\u900f\u5727\u306e\u6539\u5584\u304c\u898b\u3089\u308c\u306a\u3044\u3002<\/li>\n\n\n\n<li><strong>\u8840\u6e05\u96fb\u89e3\u8cea\u304a\u3088\u3073\u6d78\u900f\u5727\u6e2c\u5b9a<\/strong>\uff1a\u9ad8\u30ca\u30c8\u30ea\u30a6\u30e0\u8840\u75c7\uff08&gt;150mmol\/L\uff09\u3001\u9ad8\u6d78\u900f\u5727\u8840\u75c7\uff08&gt;300mOsm\/kg\uff09\u304c\u7279\u5fb4\u3002<\/li>\n\n\n\n<li><strong>\u30b3\u30da\u30d7\u30c1\u30f3\u6e2c\u5b9a<\/strong>\uff1a\u30d0\u30bd\u30d7\u30ec\u30b7\u30f3\u306e\u5b89\u5b9a\u306a\u30d0\u30a4\u30aa\u30de\u30fc\u30ab\u30fc\u3068\u3057\u3066\u6d3b\u7528\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u691c\u67fb<\/strong>\uff1aAQP2\u907a\u4f1d\u5b50\u306e\u5909\u7570\u89e3\u6790\u306b\u3088\u308a\u78ba\u5b9a\u8a3a\u65ad\u304c\u53ef\u80fd\u3002<\/li>\n\n\n\n<li><strong>\u814e\u8d85\u97f3\u6ce2\u691c\u67fb<\/strong>\uff1a\u5c3f\u8def\u62e1\u5f35\u306a\u3069\u306e\u5408\u4f75\u75c7\u8a55\u4fa1\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<p>\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u5b58\u5728\u305b\u305a\u3001\u5bfe\u75c7\u7642\u6cd5\u304c\u4e2d\u5fc3\u3068\u306a\u308b\u3002<\/p>\n\n\n\n<ol start=\"1\" class=\"wp-block-list\">\n<li><strong>\u6c34\u5206\u6442\u53d6\u306e\u78ba\u4fdd<\/strong>\uff1a\u8131\u6c34\u3092\u9632\u3050\u305f\u3081\u306b\u968f\u6642\u306e\u6c34\u5206\u6442\u53d6\u3092\u63a8\u5968\u3002<\/li>\n\n\n\n<li><strong>\u98df\u4e8b\u7642\u6cd5<\/strong>\uff1a\u4f4e\u30ca\u30c8\u30ea\u30a6\u30e0\u30fb\u4f4e\u30bf\u30f3\u30d1\u30af\u98df\u3092\u63a8\u5968\u3057\u3001\u5c3f\u91cf\u3092\u6e1b\u5c11\u3055\u305b\u308b\u3002<\/li>\n\n\n\n<li><strong>\u85ac\u7269\u7642\u6cd5<\/strong>\uff1a\n<ul class=\"wp-block-list\">\n<li><strong>\u30c1\u30a2\u30b8\u30c9\u7cfb\u5229\u5c3f\u85ac<\/strong>\uff08\u30d2\u30c9\u30ed\u30af\u30ed\u30ed\u30c1\u30a2\u30b8\u30c92\u301c4mg\/kg\/\u65e5\uff09\uff1a\u5c3f\u91cf\u306e50%\u6e1b\u5c11\u3092\u671f\u5f85\u3002<\/li>\n\n\n\n<li><strong>\u30a2\u30df\u30ed\u30e9\u30a4\u30c9<\/strong>\uff080.3mg\/kg\/\u65e5\uff09\uff1a\u4f4e\u30ab\u30ea\u30a6\u30e0\u8840\u75c7\u3092\u4e88\u9632\u3002<\/li>\n\n\n\n<li><strong>\u975e\u30b9\u30c6\u30ed\u30a4\u30c9\u6027\u6297\u708e\u75c7\u85ac\uff08NSAIDs\uff09<\/strong>\uff08\u30a4\u30f3\u30c9\u30e1\u30bf\u30b7\u30f3\uff09\uff1a\u5c3f\u91cf\u6e1b\u5c11\u52b9\u679c\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u65b0\u898f\u6cbb\u7642\u6cd5\u306e\u7814\u7a76<\/strong>\uff1a\u5316\u5b66\u30b7\u30e3\u30da\u30ed\u30f3\u3084\u907a\u4f1d\u5b50\u6cbb\u7642\u306b\u3088\u308bAQP2\u306e\u6a5f\u80fd\u56de\u5fa9\u304c\u7814\u7a76\u3055\u308c\u3066\u3044\u308b\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>\u9069\u5207\u306a\u7ba1\u7406\u304c\u884c\u308f\u308c\u308c\u3070\u3001\u60a3\u8005\u306e\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u306f\u7dad\u6301\u53ef\u80fd\u3067\u3042\u308b\u3002\u3057\u304b\u3057\u3001\u4e73\u5e7c\u5150\u671f\u306b\u8a3a\u65ad\u3055\u308c\u305a\u653e\u7f6e\u3055\u308c\u305f\u5834\u5408\u3001\u6210\u9577\u969c\u5bb3\u3084\u7cbe\u795e\u767a\u9054\u9045\u6ede\u3092\u5f15\u304d\u8d77\u3053\u3059\u30ea\u30b9\u30af\u304c\u3042\u308b\u3002\u6210\u4eba\u671f\u306b\u306f\u814e\u7d50\u77f3\u3084\u6162\u6027\u814e\u75be\u60a3\uff08CKD\uff09\u3092\u5408\u4f75\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u9577\u671f\u7684\u306a\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3042\u308b\u3002\u65b0\u305f\u306a\u6cbb\u7642\u6cd5\u306e\u958b\u767a\u306b\u3088\u308a\u3001\u4eca\u5f8c\u306e\u4e88\u5f8c\u6539\u5584\u304c\u671f\u5f85\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306e\u65e9\u671f\u8a3a\u65ad\u3068\u9069\u5207\u306a\u6cbb\u7642\u4ecb\u5165\u304c\u3001\u60a3\u8005\u306e\u4e88\u5f8c\u3092\u5927\u304d\u304f\u5de6\u53f3\u3059\u308b\u305f\u3081\u3001\u5bb6\u65cf\u6b74\u304c\u3042\u308b\u5834\u5408\u306b\u306f\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u542b\u3081\u305f\u7cbe\u5bc6\u691c\u67fb\u3092\u63a8\u5968\u3059\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u5f15\u7528\u6587\u732e\uff5cReferences<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1515\/jpem-2021-0566\">Vaz de Castro, P., Bitencourt, L., de Oliveira Campos, J., Fischer, B., Soares de Brito, S., Soares, B., Drummond, J. &amp; Sim\u00f5es e Silva, A. (2022). Nephrogenic diabetes insipidus: a comprehensive overview. Journal of Pediatric Endocrinology and Metabolism, 35(4), 421-434. https:\/\/doi.org\/10.1515\/jpem-2021-0566<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/children12020195\">Stroescu, R., Chiri\u0163\u0103-Emandi, A., Puiu, M., Chisavu, F., Steflea, R., Doro\u015f, G., &amp; Gafencu, M. (2025). Nephrogenic Diabetes Insipidus Affecting Three Males in Two Generations-Case Report and Review of the Literature. <em>Children (Basel, Switzerland)<\/em>, <em>12<\/em>(2), 195. https:\/\/doi.org\/10.3390\/children12020195<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/s41598-023-41616-1\">Hagstr\u00f6mer, C.J., Hyld Steffen, J., Kreida, S. <em>et al.<\/em> Structural and functional analysis of aquaporin-2 mutants involved in nephrogenic diabetes insipidus. <em>Sci Rep<\/em> <strong>13<\/strong>, 14674 (2023). https:\/\/doi.org\/10.1038\/s41598-023-41616-1<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.ekir.2022.07.001\">Hinrichs, G. R., Baltzer, S., Pallien, T., Svenningsen, P., Dalgaard, E. B., Hertz, J. M., Bistrup, C., Jensen, B. L., &amp; Klussmann, E. (2022). A novel aqp2 sequence variant causing aquaporin-2 retention in the cytoplasm and autosomal dominant nephrogenic diabetes insipidus. <em>Kidney International Reports<\/em>, <em>7<\/em>(10), 2289\u20132294. https:\/\/doi.org\/10.1016\/j.ekir.2022.07.001<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3389\/fendo.2021.686818\">Li, Q., Tian, D., Cen, J., Duan, L., &amp; Xia, W. (2021). Novel aqp2 mutations and clinical characteristics in seven chinese families with congenital nephrogenic diabetes insipidus. <em>Frontiers in Endocrinology<\/em>, <em>12<\/em>, 686818. https:\/\/doi.org\/10.3389\/fendo.2021.686818<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.mce.2022.111825\">Hureaux, M., &amp; Vargas-Poussou, R. (2023). Genetic basis of nephrogenic diabetes insipidus. <em>Molecular and Cellular Endocrinology<\/em>, <em>560<\/em>, 111825. https:\/\/doi.org\/10.1016\/j.mce.2022.111825<\/a><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/h2>\n\n\n\n<p class=\"has-text-align-center\"><sup><sup>\u814e\u6027\u5c3f\u5d29\u75c7, AQP2, AQP2\u907a\u4f1d\u5b50, AVPR2, \u907a\u4f1d\u6027\u5c3f\u5d29\u75c7, \u5bb6\u65cf\u6027\u814e\u6027\u5c3f\u5d29\u75c7, \u591a\u5c3f, \u9ad8\u30ca\u30c8\u30ea\u30a6\u30e0\u8840\u75c7, \u4f4e\u5f35\u5c3f, \u6297\u5229\u5c3f\u30db\u30eb\u30e2\u30f3, \u907a\u4f1d\u5b50\u691c\u67fb, \u30c1\u30a2\u30b8\u30c9\u7cfb\u5229\u5c3f\u85ac<\/sup><\/sup><\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-60288","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\/60288","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":10,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60288\/revisions"}],"predecessor-version":[{"id":128102,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60288\/revisions\/128102"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=60288"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}