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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>WDR19<\/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>\u30b7\u30cb\u30a2\u30fb\u30ed\u30fc\u30b1\u30f3\u75c7\u5019\u7fa4\uff08SLSN\uff09\u306f<strong>\u30cd\u30d5\u30ed\u30f3\u7646\u3068\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3092\u4f75\u305b\u3082\u3064\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u7e4a\u6bdb\u75c5<\/strong>\u3067\u3001\u30cd\u30d5\u30ed\u30f3\u7646\u5168\u4f53\u306e10\u301c15%\u3092\u5360\u3081\u308b\u3002\u539f\u56e0\u907a\u4f1d\u5b50\u306f<strong><em>NPHP1<\/em>\u3001<em>NPHP4<\/em>\u3001<em>IQCB1<\/em>\uff08NPHP5\uff09\u3001<em>CEP290<\/em>\uff08NPHP6\uff09\u3001<em>SDCCAG8<\/em>\uff08NPHP10\uff09\u3001<em>WDR19<\/em>\uff08IFT144\uff09\u3001<em>TRAF3IP1<\/em><\/strong> \u306a\u3069\u3067\u3001<strong>\u3044\u305a\u308c\u3082\u30cd\u30d5\u30ed\u30f3\u7646\u5358\u72ec\u3084\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u30fb\u30d0\u30eb\u30c7\u30fc\u30fb\u30d3\u30fc\u30c9\u30eb\u75c7\u5019\u7fa4\u3068\u3082\u8868\u73fe\u578b\u3092\u5171\u6709\u3059\u308b<\/strong>\u3002<\/p>\n\n\n<p><strong>WDR19<\/strong>\uff08IFT144\u30014p14\uff09\u306fIFT-A\u8907\u5408\u4f53\u306e\u30b3\u30a2\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u3067\u3001<strong>\u7e4a\u6bdb\u5185\u306e\u9006\u884c\u8f38\u9001\uff08retrograde transport\uff09<\/strong>\u3092\u62c5\u3046\u3002\u540c\u4e00\u907a\u4f1d\u5b50\u304b\u3089<strong>\u30b7\u30cb\u30a2\u30fb\u30ed\u30fc\u30b1\u30f3\u75c7\u5019\u7fa48\u578b\u3001\u30cd\u30d5\u30ed\u30f3\u764613\u578b\u3001\u77ed\u808b\u9aa8\u80f8\u90ed\u7570\u5f62\u6210\u75c7\uff08\u30b8\u30e5\u30fc\u30cc\u75c7\u5019\u7fa4\uff09\u3001\u30af\u30e9\u30cb\u30aa\u30a8\u30af\u30c8\u30c0\u30fc\u30de\u30eb\u7570\u5f62\u6210\u75c7\uff08Sensenbrenner\u75c7\u5019\u7fa4\uff09<\/strong>\u3068\u3044\u3046\u8907\u6570\u306e\u7e4a\u6bdb\u75c5\u8868\u73fe\u578b\u304c\u751f\u3058\u308b\u3002<strong>\u300c\u814e\u30fb\u7db2\u819c\u30fb\u9aa8\u30fb\u809d\u300d\u306e\u3069\u306e\u7d44\u307f\u5408\u308f\u305b\u304c\u51fa\u308b\u304b\u306f\u6b8b\u5b58\u6a5f\u80fd\u306b\u4f9d\u5b58\u3057\u3001\u907a\u4f1d\u5b50\u578b\u304b\u3089\u306e\u4e88\u6e2c\u306f\u96e3\u3057\u3044<\/strong>\u305f\u3081\u3001\u8a3a\u65ad\u5f8c\u306f\u5404\u81d3\u5668\u3092\u7cfb\u7d71\u7684\u306b\u8a55\u4fa1\u3059\u308b\u3002<\/p>\n\n\n<p><strong>\u81e8\u5e8a\u7684\u306b\u6700\u3082\u91cd\u8981\u306a\u306e\u306f\u300c\u7db2\u819c\u75c7\u72b6\u306e\u767a\u75c7\u6642\u671f\u300d\u306b\u3088\u308b\u5c64\u5225\u5316<\/strong>\u3067\u3042\u308b\u3002<em>IQCB1<\/em>\u30fb<em>CEP290<\/em> \u3067\u306f\u4e73\u5150\u671f\u306e\u30ec\u30fc\u30d0\u30fc\u5148\u5929\u9ed2\u5185\u969c\u3068\u3057\u3066\u767a\u75c7\u3057\u3001<em>NPHP1<\/em>\u30fb<em>NPHP4<\/em> \u3067\u306f\u5b66\u7ae5\u671f\u4ee5\u964d\u306e\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7\u3068\u3057\u3066\u73fe\u308c\u308b\u3002<strong>\u524d\u8005\u3067\u306f\u300c\u76ee\u306e\u75c5\u6c17\u300d\u3068\u3057\u3066\u773c\u79d1\u3067\u9577\u671f\u306b\u7d4c\u904e\u3092\u307f\u3089\u308c\u3066\u3044\u308b\u9593\u306b\u814e\u4e0d\u5168\u304c\u9032\u884c\u3057\u3046\u308b\u305f\u3081\u3001LCA\u306e\u907a\u4f1d\u5b50\u8a3a\u65ad\u306f\u814e\u81d3\u306e\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\u958b\u59cb\u306e\u5224\u65ad\u6750\u6599\u3068\u306a\u308b\u3002<\/strong>\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u30d0\u30eb\u30c7\u30fc\u30fb\u30d3\u30fc\u30c9\u30eb\u75c7\u5019\u7fa4\u3001\u30b8\u30e5\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u95a2\u9023\u75be\u60a3\u3001\u30a2\u30eb\u30b9\u30c8\u30ec\u30e0\u75c7\u5019\u7fa4\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75c5\uff08Kearns-Sayre\u75c7\u5019\u7fa4\uff09\u304c\u6319\u304c\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. \u30cd\u30d5\u30ed\u30f3\u7646\u81ea\u4f53\u304c\u51fa\u751f5\u4e07\u4eba\u304b\u308910\u4e07\u4eba\u306b1\u4eba\u7a0b\u5ea6\u3068\u307e\u308c\u3067\u3001\u305d\u306e\u3046\u3061\u7db2\u819c\u306e\u75c7\u72b6\u3092\u4f34\u3046\u30b7\u30cb\u30a2\u30fb\u30ed\u30fc\u30b1\u30f3\u75c7\u5019\u7fa4\u306f10\u301c15%\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u76ee\u304c\u898b\u3048\u306b\u304f\u3044\u3046\u3048\u306b\u814e\u81d3\u3082\u60aa\u304f\u306a\u308b\u306e\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u3053\u306e\u75c5\u6c17\u3067\u306f\u4e21\u65b9\u304c\u8d77\u3053\u308a\u307e\u3059\u304c\u3001<strong>\u6642\u671f\u304c\u305a\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u540c\u6642\u306b\u6025\u6fc0\u306b\u60aa\u304f\u306a\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u305d\u308c\u305e\u308c\u306b\u5bfe\u3059\u308b\u652f\u63f4\u5236\u5ea6\u304c\u3042\u308a\u307e\u3059\u3002\u65e9\u3081\u306b\u533b\u7642\u30bd\u30fc\u30b7\u30e3\u30eb\u30ef\u30fc\u30ab\u30fc\u306b\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u814e\u79fb\u690d\u3092\u53d7\u3051\u308b\u3068\u76ee\u3082\u3088\u304f\u306a\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p>A. <strong>\u6b8b\u5ff5\u306a\u304c\u3089\u3001\u814e\u79fb\u690d\u3067\u76ee\u306e\u75c7\u72b6\u304c\u6539\u5584\u3059\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u814e\u81d3\u3068\u76ee\u306f\u5225\u3005\u306b\u7ba1\u7406\u3057\u3066\u3044\u304f\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002\u305f\u3060\u3057\u814e\u79fb\u690d\u306b\u3088\u3063\u3066\u5168\u8eab\u72b6\u614b\u304c\u6539\u5584\u3057\u3001\u751f\u6d3b\u306e\u8cea\u306f\u5927\u304d\u304f\u5411\u4e0a\u3057\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u80f8\u306e\u5f62\u3084\u9aa8\u306b\u3064\u3044\u3066\u3082\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u3053\u306e\u907a\u4f1d\u5b50\u3067\u306f\u3001\u80f8\u90ed\u304c\u72ed\u3044\u306a\u3069\u9aa8\u306e\u75c7\u72b6\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u8a3a\u65ad\u304c\u3064\u3044\u305f\u6642\u70b9\u3067\u3001\u80f8\u90e8X\u7dda\u3092\u542b\u3081\u305f\u5168\u8eab\u306e\u8a55\u4fa1\u3092\u304a\u3059\u3059\u3081\u3057\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\u308a\u307e\u3059\u3002<\/strong>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n<ul class=\"wp-block-list\">\n<li>Ronquillo CC, Bernstein PS, Baehr W. Senior-L\u00f8ken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis. <em>Vision Res<\/em>. 2012;75:88-97.<\/li>\n\n\n\n<li>Wolf MTF, Hildebrandt F. Nephronophthisis. <em>Pediatr Nephrol<\/em>. 2011;26(2):181-194.<\/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>Bredrup C, Saunier S, Oud MM, et al. Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. <em>Am J Hum Genet<\/em>. 2011;89(5):634-643.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-137009","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\/137009","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\/137009\/revisions"}],"predecessor-version":[{"id":137327,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/137009\/revisions\/137327"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=137009"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}