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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>CERS3<\/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>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u5148\u5929\u6027\u9b5a\u9c57\u766c\uff08ARCI\uff09\u306f<strong>\u975e\u75c7\u5019\u6027\u907a\u4f1d\u6027\u9b5a\u9c57\u766c\u306e\u3046\u3061\u6f5c\u6027\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308b\u7fa4<\/strong>\u3067\u3001\u81e8\u5e8a\u7684\u306b<strong>\u2460\u9053\u5316\u5e2b\u69d8\u9b5a\u9c57\u766c\uff08HI\uff09\u3001\u2461\u8449\u72b6\u9b5a\u9c57\u766c\uff08LI\uff09\u3001\u2462\u5148\u5929\u6027\u9b5a\u9c57\u766c\u69d8\u7d05\u76ae\u75c7\uff08CIE\uff09<\/strong>\u306b\u5206\u3051\u3089\u308c\u308b\u304c\u3001<strong>\u907a\u4f1d\u5b50\u578b\u3068\u81e8\u5e8a\u578b\u306e\u5bfe\u5fdc\u306f\u53b3\u5bc6\u3067\u306f\u306a\u3044<\/strong>\u3002\u539f\u56e0\u907a\u4f1d\u5b50\u306f<em>TGM1<\/em>\u3001<em>ABCA12<\/em>\u3001<em>ALOX12B<\/em>\u3001<em>ALOXE3<\/em>\u3001<em>NIPAL4<\/em>\u3001<em>CYP4F22<\/em>\u3001<em>PNPLA1<\/em>\u3001<em>CERS3<\/em>\u3001<em>LIPN<\/em>\u3001<em>SDR9C7<\/em>\u3001<em>SULT2B1<\/em> \u306a\u3069\u304c\u77e5\u3089\u308c\u308b\u3002<\/p>\n\n\n<p><strong>CERS3<\/strong>\uff0815q26.3\uff09\u306f\u8868\u76ae\u7279\u7570\u7684\u306a\u30bb\u30e9\u30df\u30c9\u5408\u6210\u9175\u7d20\u3067\u3001<strong>\u8d85\u9577\u9396\uff08C26\u4ee5\u4e0a\uff09\u306e\u30b9\u30d5\u30a3\u30f3\u30b4\u8102\u8cea\u3092\u30a2\u30b7\u30eb\u5316\u3057\u3066\u30bb\u30e9\u30df\u30c9\u3092\u7523\u751f\u3059\u308b<\/strong>\u3002\u7523\u7269\u3067\u3042\u308b\u30a2\u30b7\u30eb\u30bb\u30e9\u30df\u30c9\u306f\u89d2\u5c64\u9593\u8102\u8cea\u30e9\u30e1\u30e9\u306e\u4e3b\u8981\u69cb\u6210\u6210\u5206\u3067\u3042\u308a\u3001<strong>\u7d4c\u8868\u76ae\u6c34\u5206\u55aa\u5931\uff08TEWL\uff09\u306e\u6291\u5236\u306b\u6c7a\u5b9a\u7684\u306a\u5f79\u5272\u3092\u679c\u305f\u3059<\/strong>\u3002Cers3\u6b20\u640d\u30de\u30a6\u30b9\u306f\u51fa\u751f\u76f4\u5f8c\u306b\u8131\u6c34\u3067\u6b7b\u4ea1\u3059\u308b\u3053\u3068\u304b\u3089\u3001\u30d2\u30c8\u3067\u3082\u65b0\u751f\u5150\u671f\u306e\u6c34\u5206\u30fb\u96fb\u89e3\u8cea\u7ba1\u7406\u304c\u91cd\u8981\u3067\u3042\u308b\u3002<em>CYP4F22<\/em>\u30fb<em>PNPLA1<\/em>\u30fb<em>ABCA12<\/em> \u3068\u3068\u3082\u306b<strong>\u300c\u30a2\u30b7\u30eb\u30bb\u30e9\u30df\u30c9\u7d4c\u8def\u306eARCI\u300d<\/strong>\u3068\u3044\u3046\u751f\u5316\u5b66\u7684\u306b\u4e00\u8cab\u3057\u305f\u30b5\u30d6\u30b0\u30eb\u30fc\u30d7\u3092\u5f62\u6210\u3059\u308b\u3002<\/p>\n\n\n<p><strong>\u75c5\u614b\u306e\u4e2d\u5fc3\u306f\u30a2\u30b7\u30eb\u30bb\u30e9\u30df\u30c9\u3092\u4ecb\u3057\u305f\u300c\u89d2\u8cea\u7d30\u80de\u8102\u8cea\u30a8\u30f3\u30d9\u30ed\u30fc\u30d7\uff08CLE\uff09\u300d\u306e\u5f62\u6210\u4e0d\u5168<\/strong>\u3067\u3042\u308a\u3001<em>ALOX12B<\/em>\uff0f<em>ALOXE3<\/em>\uff08\u30ea\u30dd\u30ad\u30b7\u30b2\u30ca\u30fc\u30bc\uff09\u3001<em>CYP4F22<\/em>\uff08\u03c9\u6c34\u9178\u5316\uff09\u3001<em>PNPLA1<\/em>\uff08\u03c9-O\u30a2\u30b7\u30eb\u8ee2\u79fb\uff09\u3001<em>CERS3<\/em>\uff08\u30bb\u30e9\u30df\u30c9\u5408\u6210\uff09\u3001<em>ABCA12<\/em>\uff08\u30e9\u30e1\u30e9\u9846\u7c92\u3078\u306e\u8f38\u9001\uff09\u304c<strong>\u4e00\u672c\u306e\u751f\u5408\u6210\u7d4c\u8def\u4e0a\u306b\u4e26\u3076<\/strong>\u3002\u4e00\u65b9<em>TGM1<\/em> \u306f\u30bf\u30f3\u30d1\u30af\u8cea\u67b6\u6a4b\uff08CE\u5f62\u6210\uff09\u3092\u62c5\u3044\u3001\u7d4c\u8def\u3068\u3057\u3066\u306f\u5225\u7cfb\u7d71\u3067\u3042\u308b\u3002\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u75c7\u5019\u7fa4\u6027\u9b5a\u9c57\u766c\uff08<strong>\u30b7\u30a7\u30fc\u30b0\u30ec\u30f3\u30fb\u30e9\u30eb\u30bd\u30f3\u75c7\u5019\u7fa4\uff1d<em>ALDH3A2<\/em>\uff1a\u75d9\u6027\u5bfe\u9ebb\u75fa\u3068\u9ec4\u6591\u306e\u8f1d\u70b9\u3001\u30cd\u30b6\u30fc\u30c8\u30f3\u75c7\u5019\u7fa4\uff1d<em>SPINK5<\/em>\uff1a\u7af9\u7bc0\u72b6\u6bdb\u9aea\u3068\u30a2\u30c8\u30d4\u30fc\u3001\u30b3\u30f3\u30e9\u30c7\u30a3\u30fb\u30d2\u30e5\u30fc\u30cd\u30eb\u30de\u30f3\u75c7\u5019\u7fa4<\/strong>\uff09\u3092\u5fc5\u305a\u9664\u5916\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. \u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u5148\u5929\u6027\u9b5a\u9c57\u766c\u5168\u4f53\u3067\u3001\u51fa\u751f10\u4e07\u4eba\u304b\u308920\u4e07\u4eba\u306b1\u4eba\u7a0b\u5ea6\u3068\u3055\u308c\u307e\u3059\u3002\u305d\u306e\u306a\u304b\u3067\u500b\u3005\u306e\u907a\u4f1d\u5b50\u306b\u3088\u308b\u578b\u306f\u3001\u3055\u3089\u306b\u307e\u308c\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u4fdd\u6e7f\u306f\u3069\u308c\u304f\u3089\u3044\u7d9a\u3051\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p>A. <strong>\u751f\u6daf\u306b\u308f\u305f\u3063\u3066\u7d9a\u3051\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u305f\u3060\u3057\u3001\u7d9a\u3051\u308b\u3053\u3068\u3067\u76ae\u819a\u306e\u72b6\u614b\u306f\u5927\u304d\u304f\u6539\u5584\u3057\u3001\u3064\u3063\u3071\u308a\u611f\u3084\u304b\u3086\u307f\u3082\u8efd\u304f\u306a\u308a\u307e\u3059\u3002\u3054\u672c\u4eba\u304c\u7d9a\u3051\u3084\u3059\u3044\u85ac\u5264\u3084\u5857\u308a\u65b9\u3092\u3001\u76ae\u819a\u79d1\u533b\u3068\u4e00\u7dd2\u306b\u898b\u3064\u3051\u3066\u3044\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u5b66\u6821\u751f\u6d3b\u3067\u6c17\u3092\u3064\u3051\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p>A. <strong>\u4f53\u6e29\u304c\u4e0a\u304c\u308a\u3059\u304e\u306a\u3044\u3088\u3046\u306b\u3059\u308b\u914d\u616e\u304c\u5fc5\u8981\u3067\u3059\u3002<\/strong>\u4f53\u80b2\u3084\u5c4b\u5916\u6d3b\u52d5\u306e\u3068\u304d\u306f\u3001\u4f11\u61a9\u30fb\u6c34\u5206\u88dc\u7d66\u30fb\u65e5\u9670\u306e\u5229\u7528\u306b\u3064\u3044\u3066\u5b66\u6821\u3068\u4e8b\u524d\u306b\u76f8\u8ac7\u3057\u3066\u304a\u304f\u3068\u3088\u3044\u3067\u3057\u3087\u3046\u3002\u307e\u305f\u3001\u898b\u305f\u76ee\u306b\u3064\u3044\u3066\u306e\u7406\u89e3\u3092\u5468\u56f2\u306b\u5f97\u308b\u3053\u3068\u3082\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u4fdd\u6e7f\u306f\u3069\u306e\u304f\u3089\u3044\u3059\u308c\u3070\u3088\u3044\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u3053\u306e\u75c5\u6c17\u3067\u306f\u76ae\u819a\u304b\u3089\u6c34\u5206\u304c\u9003\u3052\u3084\u3059\u3044\u305f\u3081\u30011\u65e5\u306b\u4f55\u5ea6\u3082\u4fdd\u6e7f\u3059\u308b\u3053\u3068\u304c\u57fa\u672c\u306e\u6cbb\u7642\u306b\u306a\u308a\u307e\u3059\u3002\u5165\u6d74\u5f8c\u3059\u3050\u306e\u4fdd\u6e7f\u304c\u3068\u304f\u306b\u5927\u5207\u3067\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\u6b63\u78ba\u306a\u898b\u901a\u3057\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u78ba\u8a8d\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>Oji V, Tadini G, Akiyama M, et al. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sor\u00e8ze 2009. <em>J Am Acad Dermatol<\/em>. 2010;63(4):607-641.<\/li>\n\n\n\n<li>Akiyama M. Corneocyte lipid envelope (CLE), the key structure for skin barrier function and ichthyosis pathogenesis. <em>J Dermatol Sci<\/em>. 2017;88(1):3-9.<\/li>\n\n\n\n<li>Vahlquist A, Fischer J, T\u00f6rm\u00e4 H. Inherited nonsyndromic ichthyoses: an update on pathophysiology, diagnosis and treatment. <em>Am J Clin Dermatol<\/em>. 2018;19(1):51-66.<\/li>\n\n\n\n<li>Eckl KM, Tidhar R, Thiele H, et al. Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length. <em>J Invest Dermatol<\/em>. 2013;133(9):2202-2211.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-137015","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\/137015","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\/137015\/revisions"}],"predecessor-version":[{"id":137333,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/137015\/revisions\/137333"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=137015"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}