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class=\"wp-block-heading\">\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3092\u7528\u3044\u305f\u691c\u67fb\uff081,200\u7a2e\u985e\u4ee5\u4e0a\uff09<\/h3>\n\n\n<p>\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306f\u3001\u907a\u4f1d\u5b50\u306e\u3046\u3061\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3\u306b\u3042\u305f\u308b\u90e8\u5206\uff08\u30a8\u30af\u30bd\u30f3\uff09\u3092\u307e\u3068\u3081\u3066\u8aad\u307f\u53d6\u308b\u691c\u67fb\u3067\u3059\u3002\u3053\u306e\u89e3\u6790\u3092\u884c\u3063\u305f\u3046\u3048\u3067\u3001<strong>INVS<\/strong> \u907a\u4f1d\u5b50\u3092\u542b\u3080<strong>1,200\u7a2e\u985e\u4ee5\u4e0a<\/strong>\u306e\u907a\u4f1d\u5b50\u3092\u5bfe\u8c61\u306b\u8abf\u3079\u3001<strong>\u3053\u306e\u75be\u60a3\u306e\u539f\u56e0\u3068\u306a\u308b\u5909\u5316\u3092\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059<\/strong>\u3002\u56fd\u5185\u306e\u691c\u67fb\u6240\u3067\u884c\u3044\u3001\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f5\u9031\u9593\u301c7\u9031\u9593\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\uff08228\u7a2e\u985e\uff09<\/h3>\n\n\n<p>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u75be\u60a3\u306f\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u75c7\u72b6\u306e\u306a\u3044\u300c\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u300d\u3067\u3042\u308b\u3068\u304d\u306b\u3001<strong>4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u304a\u5b50\u3055\u307e\u304c\u767a\u75c7\u3057\u307e\u3059\u3002\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\u3067\u306f\u3001\u3054\u592b\u5a66\u304c\u3053\u306e\u75be\u60a3\u306e\u30ad\u30e3\u30ea\u30a2\u304b\u3069\u3046\u304b\u3092\u982c\u306e\u5185\u5074\u306e\u7c98\u819c\u304b\u3089\u8abf\u3079\u3001<strong>\u304a\u5b50\u3055\u307e\u306b\u53d7\u3051\u7d99\u304c\u308c\u308b\u53ef\u80fd\u6027\u3092\u3001\u598a\u5a20\u524d\u3084\u51fa\u751f\u524d\u306b\u4e88\u6e2c\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059<\/strong>\u3002<\/p>\n\n\n<p>\u691c\u67fb\u306e\u5185\u5bb9\u30fb\u8cbb\u7528\u30fb\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f <a href=\"\/nipt\/nipt\/autosomal-recessive-inheritance\/\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8228<\/a> \u306e\u30da\u30fc\u30b8\u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n<p>\u30cd\u30d5\u30ed\u30f3\u7646\u306f\u3001<strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u306e\u6162\u6027\u5c3f\u7d30\u7ba1\u9593\u8cea\u6027\u814e\u75c7\u3067\u3042\u308a\u3001\u7e4a\u6bdb\u75c5\uff08ciliopathy\uff09\u306e\u814e\u8868\u73fe\u578b<\/strong>\u306b\u3042\u305f\u308b\u3002\u75c5\u7406\u5b66\u7684\u4e09\u5fb4\u306f<strong>\u2460\u5c3f\u7d30\u7ba1\u57fa\u5e95\u819c\u306e\u4e0d\u6574\uff08\u80a5\u539a\u3068\u83f2\u8584\u5316\u306e\u6df7\u5728\uff09\u3001\u2461\u5c3f\u7d30\u7ba1\u306e\u840e\u7e2e\u3068\u56a2\u80de\u5f62\u6210\u3001\u2462\u9593\u8cea\u306e\u7dda\u7dad\u5316\u3068\u5358\u6838\u7403\u6d78\u6f64<\/strong>\u3067\u3042\u308b\u3002\u767a\u75c7\u5e74\u9f62\u306b\u3088\u308a\u4e73\u5150\u578b\uff084\u6b73\u672a\u6e80\u3067ESRD\uff09\u3001\u82e5\u5e74\u578b\uff08\u4e2d\u592e\u502413\u6b73\uff09\u3001\u9752\u5e74\u578b\uff0819\u6b73\u524d\u5f8c\uff09\u306b\u5206\u985e\u3055\u308c\u3001<strong>NPHP1\u306e\u30db\u30e2\u63a5\u5408\u6b20\u5931\u304c\u5168\u4f53\u306e\u7d0420%\u3092\u5360\u3081\u308b<\/strong>\u3002<\/p>\n\n\n<p><strong>INVS<\/strong>\uff08NPHP2\u30019q31.1\uff09\u306f\u7e4a\u6bdb\u306e\u8fd1\u4f4d\u90e8\uff08\u30a4\u30f3\u30d0\u30fc\u30b7\u30f3\u533a\u753b\uff09\u306b\u5c40\u5728\u3057\u3001<strong>Wnt \u30b7\u30b0\u30ca\u30eb\u3092\u6a19\u6e96\u7d4c\u8def\u304b\u3089\u5e73\u9762\u5185\u7d30\u80de\u6975\u6027\uff08PCP\uff09\u7d4c\u8def\u3078\u5207\u308a\u66ff\u3048\u308b\u30b9\u30a4\u30c3\u30c1<\/strong>\u3068\u3057\u3066\u6a5f\u80fd\u3059\u308b\u3002\u3053\u306e\u5207\u308a\u66ff\u3048\u304c\u5931\u308f\u308c\u308b\u3068\u5c3f\u7d30\u7ba1\u306e\u4f38\u9577\u65b9\u5411\u304c\u4e71\u308c\u3001\u56a2\u80de\u5f62\u6210\u306b\u81f3\u308b\u3002<em>inv<\/em>\u30de\u30a6\u30b9\u306f\u5185\u81d3\u9006\u4f4d\u3092\u793a\u3059\u53e4\u5178\u7684\u30e2\u30c7\u30eb\u3067\u3042\u308b\u3002\u81e8\u5e8a\u7684\u306b\u306f<strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u591a\u767a\u6027\u56a2\u80de\u814e\uff08ARPKD\uff09\u3068\u306e\u9451\u5225\u304c\u554f\u984c\u3068\u306a\u308b<\/strong>\u307b\u3069\u814e\u816b\u5927\u304c\u76ee\u7acb\u3061\u3001<strong>\u4ed6\u306e\u30cd\u30d5\u30ed\u30f3\u7646\u3068\u7570\u306a\u308a\u814e\u306f\u7e2e\u5c0f\u3057\u306a\u3044<\/strong>\u70b9\u306b\u6ce8\u610f\u3059\u308b\u3002<\/p>\n\n\n<p>\u814e\u5916\u75c7\u72b6\u306e\u5408\u4f75\u306b\u3088\u308a\u3001<strong>\u30b7\u30cb\u30a2\u30fb\u30ed\u30fc\u30b1\u30f3\u75c7\u5019\u7fa4\uff08\u7db2\u819c\u5909\u6027\uff09\u3001\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\uff08\u5c0f\u8133\u866b\u90e8\u4f4e\u5f62\u6210\u30fb\u81fc\u6b6f\u5fb4\u5019\uff09\u3001\u30e1\u30c3\u30b1\u30eb\u75c7\u5019\u7fa4\u3001\u30b8\u30e5\u30fc\u30cc\u75c7\u5019\u7fa4\uff08\u80f8\u90ed\u4f4e\u5f62\u6210\uff09\u3001COACH\u75c7\u5019\u7fa4\uff08\u809d\u7dda\u7dad\u75c7\uff09<\/strong>\u306a\u3069\u306e\u75c7\u5019\u7fa4\u540d\u304c\u4e0e\u3048\u3089\u308c\u3066\u304d\u305f\u304c\u3001<strong>\u3053\u308c\u3089\u306f\u9023\u7d9a\u3057\u305f\u8868\u73fe\u578b\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u3067\u3042\u308a\u3001\u540c\u4e00\u907a\u4f1d\u5b50\u304c\u8907\u6570\u306e\u75c7\u5019\u7fa4\u3092\u751f\u3058\u3046\u308b<\/strong>\u3002\u9451\u5225\u3067\u306f\u3001\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u591a\u767a\u6027\u56a2\u80de\u814e\uff08<em>PKHD1<\/em>\uff09\u3001\u5e38\u67d3\u8272\u4f53\u9855\u6027\u5c3f\u7d30\u7ba1\u9593\u8cea\u6027\u814e\u75be\u60a3\uff08<em>UMOD<\/em>\u3001<em>MUC1<\/em>\uff09\u3001\u30d0\u30fc\u30bf\u30fc\u75c7\u5019\u7fa4\u3001\u30b7\u30b9\u30c1\u30f3\u75c7\u3092\u8003\u616e\u3059\u308b\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n<h3 class=\"wp-block-heading\">Q. \u3069\u306e\u304f\u3089\u3044\u306e\u983b\u5ea6\u3067\u8d77\u3053\u308b\u75c5\u6c17\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u6b27\u7c73\u3067\u306f\u51fa\u751f5\u4e07\u4eba\u304b\u308910\u4e07\u4eba\u306b1\u4eba\u7a0b\u5ea6\u3068\u3055\u308c\u307e\u3059\u3002\u307e\u308c\u306a\u75c5\u6c17\u3067\u3059\u304c\u3001<strong>\u5c0f\u5150\u30fb\u82e5\u5e74\u8005\u306e\u672b\u671f\u814e\u4e0d\u5168\u306e\u539f\u56e0\u3068\u3057\u3066\u306f\u907a\u4f1d\u6027\u306e\u306a\u304b\u3067\u3082\u3063\u3068\u3082\u591a\u304f\u3001\u5168\u4f53\u306e5\u301c10%\u3092\u5360\u3081\u308b<\/strong>\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u5c3f\u691c\u67fb\u3067\u306f\u7570\u5e38\u304c\u306a\u3044\u3068\u8a00\u308f\u308c\u307e\u3057\u305f\u3002<\/h3>\n\n\n<p>A. \u3053\u306e\u75c5\u6c17\u306e\u7279\u5fb4\u306e\u3072\u3068\u3064\u3067\u3059\u3002<strong>\u305f\u3093\u3071\u304f\u5c3f\u3084\u8840\u5c3f\u304c\u76ee\u7acb\u305f\u306a\u3044\u307e\u307e\u814e\u6a5f\u80fd\u3060\u3051\u304c\u4e0b\u304c\u3063\u3066\u3044\u304f<\/strong>\u305f\u3081\u3001\u5b66\u6821\u5065\u8a3a\u306e\u5c3f\u691c\u67fb\u3067\u306f\u898b\u3064\u304b\u308a\u306b\u304f\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u8840\u6db2\u691c\u67fb\u306e\u30af\u30ec\u30a2\u30c1\u30cb\u30f3\u3068\u3001\u814e\u81d3\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u304c\u8a3a\u65ad\u306e\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u591c\u5c3f\u304c\u7d9a\u3044\u3066\u3044\u307e\u3059\u3002\u95a2\u4fc2\u304c\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u3044\u3063\u305f\u3093\u304a\u3080\u3064\u304c\u5916\u308c\u305f\u3042\u3068\u306b\u591c\u5c3f\u304c\u518d\u3073\u73fe\u308c\u308b\u3053\u3068\u306f\u3001<strong>\u5c3f\u3092\u6fc3\u304f\u3067\u304d\u306a\u304f\u306a\u3063\u3066\u3044\u308b\u30b5\u30a4\u30f3<\/strong>\u306e\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u591a\u98f2\u30fb\u591a\u5c3f\u3092\u4f34\u3046\u5834\u5408\u306f\u3001\u4e00\u5ea6\u814e\u81d3\u306e\u691c\u67fb\u3092\u53d7\u3051\u308b\u3053\u3068\u3092\u304a\u3059\u3059\u3081\u3057\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u591a\u767a\u6027\u56a2\u80de\u814e\u3068\u8a00\u308f\u308c\u307e\u3057\u305f\u304c\u9055\u3046\u306e\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u3053\u306e\u578b\u3067\u306f\u814e\u81d3\u304c\u5927\u304d\u304f\u306a\u308a\u56a2\u80de\u304c\u3067\u304d\u308b\u305f\u3081\u3001\u591a\u767a\u6027\u56a2\u80de\u814e\u3068\u3088\u304f\u4f3c\u305f\u898b\u3048\u65b9\u306b\u306a\u308a\u307e\u3059\u3002\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3067\u533a\u5225\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u30ad\u30e3\u30ea\u30a2\u306e\u5834\u5408\u3001\u304a\u5b50\u3055\u307e\u3054\u3068\u306b4\u5206\u306e1\u306e\u78ba\u7387\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<strong>\u3054\u304d\u3087\u3046\u3060\u3044\u306f\u75c7\u72b6\u304c\u51fa\u308b\u524d\u306b\u898b\u3064\u304b\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001\u691c\u67fb\u306b\u3064\u3044\u3066\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/strong><\/p>\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n<ul class=\"wp-block-list\">\n<li>Wolf MTF, Hildebrandt F. Nephronophthisis. <em>Pediatr Nephrol<\/em>. 2011;26(2):181-194.<\/li>\n\n\n\n<li>Srivastava S, Molinari E, Raman S, Sayer JA. Many genes-one disease? Genetics of nephronophthisis and translational aspects. <em>Front Pediatr<\/em>. 2018;5:287.<\/li>\n\n\n\n<li>Hildebrandt F, Benzing T, Katsanis N. Ciliopathies. <em>N Engl J Med<\/em>. 2011;364(16):1533-1543.<\/li>\n\n\n\n<li>Otto EA, Schermer B, Obara T, et al. Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. <em>Nat Genet<\/em>. 2003;34(4):413-420.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136952","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\/136952","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":1,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136952\/revisions"}],"predecessor-version":[{"id":137270,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136952\/revisions\/137270"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136952"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}