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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>SERPINF1<\/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>\u9aa8\u5f62\u6210\u4e0d\u5168\u75c7\uff08OI\uff09\u306f<strong>I\u578b\u30b3\u30e9\u30fc\u30b2\u30f3\u306e\u91cf\u7684\u30fb\u8cea\u7684\u7570\u5e38\u3001\u3042\u308b\u3044\u306f\u305d\u306e\u7ffb\u8a33\u5f8c\u4fee\u98fe\u30fb\u5206\u6ccc\u30fb\u9aa8\u57fa\u8cea\u77f3\u7070\u5316\u306e\u7570\u5e38<\/strong>\u306b\u3088\u308b\u9aa8\u8106\u5f31\u6027\u75be\u60a3\u7fa4\u3067\u3042\u308b\u3002\u53e4\u5178\u7684\u306aSillence\u5206\u985e\uff08I\u301cIV\u578b\uff09\u306f\u81e8\u5e8a\u7684\u91cd\u75c7\u5ea6\u306b\u57fa\u3065\u304f\u304c\u3001\u73fe\u5728\u306f<strong>\u539f\u56e0\u907a\u4f1d\u5b50\u306b\u57fa\u3065\u304f\u5206\u985e\u304c20\u578b\u4ee5\u4e0a<\/strong>\u306b\u62e1\u5f35\u3055\u308c\u3066\u3044\u308b\u3002<strong>\u7d0485\u301c90%\u306f<em>COL1A1<\/em>\uff0f<em>COL1A2<\/em>\u306e\u30d8\u30c6\u30ed\u63a5\u5408\u5909\u7570\u306b\u3088\u308b\u5e38\u67d3\u8272\u4f53\u9855\u6027\u578b<\/strong>\u3067\u3001\u30cf\u30d7\u30ed\u4e0d\u5168\uff08\u91cf\u7684\u7570\u5e38\uff09\u306f\u8efd\u75c7\u306eI\u578b\u3092\u3001\u30b0\u30ea\u30b7\u30f3\u7f6e\u63db\uff08\u8cea\u7684\u7570\u5e38\uff09\u306fII\u301cIV\u578b\u3092\u751f\u3058\u308b\u3002<\/p>\n\n\n<p><strong>SERPINF1<\/strong>\uff0817p13.3\uff09\u306f\u8272\u7d20\u4e0a\u76ae\u7531\u6765\u56e0\u5b50PEDF\u3092\u30b3\u30fc\u30c9\u3057\u3001<strong>\u9aa8\u57fa\u8cea\u306e\u77f3\u7070\u5316\u3092\u5236\u5fa1\u3059\u308b\uff08\u30b3\u30e9\u30fc\u30b2\u30f3\u5408\u6210\u305d\u306e\u3082\u306e\u306f\u6b63\u5e38\uff09<\/strong>\u3002\u3053\u306e\u305f\u3081<strong>\u985e\u9aa8\uff08osteoid\uff09\u306e\u904e\u5270\u84c4\u7a4d\u3092\u4f34\u3046\u77f3\u7070\u5316\u969c\u5bb3<\/strong>\u3092\u5448\u3057\u3001\u9aa8\u751f\u691c\u3067\u306f\u504f\u5149\u9855\u5fae\u93e1\u4e0b\u3067\u7279\u5fb4\u7684\u306afish-scale\u69d8\u306e\u5c64\u677f\u69cb\u9020\u304c\u307f\u3089\u308c\u308b\u3002<strong>\u30d3\u30b9\u30db\u30b9\u30db\u30cd\u30fc\u30c8\u6cbb\u7642\u3078\u306e\u53cd\u5fdc\u304c\u4ed6\u578b\u306b\u6bd4\u3079\u4e0d\u826f<\/strong>\u3067\u3042\u308b\u3053\u3068\u304c\u7e70\u308a\u8fd4\u3057\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001<strong>\u6297RANKL\u6297\u4f53\uff08\u30c7\u30ce\u30b9\u30de\u30d6\uff09\u306e\u6709\u52b9\u6027\u304c\u691c\u8a0e\u3055\u308c\u3066\u3044\u308b<\/strong>\u304c\u3001\u4e2d\u6b62\u5f8c\u306e\u53cd\u8df3\u6027\u9ad8\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\u306b\u6ce8\u610f\u3092\u8981\u3059\u308b\u3002\u672c\u578b\u306fPEDF\u304c\u8840\u4e2d\u3067\u6e2c\u5b9a\u53ef\u80fd\u306a\u305f\u3081\u3001\u751f\u5316\u5b66\u7684\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u304c\u53ef\u80fd\u306a\u6570\u5c11\u306a\u3044OI\u3067\u3042\u308b\u3002<\/p>\n\n\n<p>\u6f5c\u6027\u578bOI\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u306f\u6a5f\u80fd\u7684\u306b\u3001<strong>\u24603-\u6c34\u9178\u5316\u8907\u5408\u4f53\uff08<em>CRTAP<\/em>\u3001<em>P3H1<\/em>\u3001<em>PPIB<\/em>\uff09\u3001\u2461\u30b7\u30e3\u30da\u30ed\u30f3\u30fb\u6298\u308a\u305f\u305f\u307f\uff08<em>SERPINH1<\/em>\u3001<em>FKBP10<\/em>\uff09\u3001\u2462\u67b6\u6a4b\u5f62\u6210\uff08<em>PLOD2<\/em>\u3001<em>BMP1<\/em>\uff09\u3001\u2463\u77f3\u7070\u5316\uff08<em>SERPINF1<\/em>\uff09\u3001\u2464\u9aa8\u82bd\u7d30\u80de\u306e\u5206\u5316\uff08<em>SP7<\/em>\u3001<em>WNT1<\/em>\u3001<em>CREB3L1<\/em>\u3001<em>MBTPS2<\/em>\uff09<\/strong>\u306b\u6574\u7406\u3067\u304d\u308b\u3002\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u4f4e\u30db\u30b9\u30d5\u30a1\u30bf\u30fc\u30bc\u75c7\uff08<em>ALPL<\/em>\uff1a\u8840\u6e05ALP\u4f4e\u5024\u304c\u6c7a\u3081\u624b\uff09\u3001Bruck\u75c7\u5019\u7fa4\uff08\u5148\u5929\u6027\u95a2\u7bc0\u62d8\u7e2e\u3092\u4f34\u3046\uff09\u3001\u9aa8\u7c97\u9b06\u75c7\u507d\u6027\u30b0\u30ea\u30aa\u30fc\u30de\u75c7\u5019\u7fa4\uff08<em>LRP5<\/em>\uff09\u3001\u305d\u3057\u3066<strong>\u975e\u4e8b\u6545\u6027\u5916\u50b7\uff08\u8650\u5f85\uff09<\/strong>\u304c\u91cd\u8981\u3067\u3042\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. \u9aa8\u5f62\u6210\u4e0d\u5168\u75c7\u5168\u4f53\u3067\u306f\u3001\u51fa\u751f1\u4e075\u5343\u4eba\u304b\u30892\u4e07\u4eba\u306b1\u4eba\u7a0b\u5ea6\u3068\u3055\u308c\u307e\u3059\u3002\u305d\u306e\u3046\u3061\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u578b\u306f1\u5272\u307b\u3069\u3067\u3001\u3053\u306e\u578b\u306f\u3055\u3089\u306b\u307e\u308c\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u904b\u52d5\u306f\u3057\u3066\u3082\u3088\u3044\u306e\u3067\u3057\u3087\u3046\u304b\u3002<\/h3>\n\n\n<p>A. <strong>\u5b89\u9759\u306b\u3057\u3059\u304e\u308b\u3068\u7b4b\u529b\u3068\u9aa8\u91cf\u304c\u3055\u3089\u306b\u843d\u3061\u3001\u304b\u3048\u3063\u3066\u9aa8\u6298\u3057\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/strong>\u885d\u7a81\u306e\u306a\u3044\u904b\u52d5\u3001\u3068\u304f\u306b<strong>\u6c34\u4e2d\u904b\u52d5<\/strong>\u304c\u52e7\u3081\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u4e3b\u6cbb\u533b\u30fb\u7406\u5b66\u7642\u6cd5\u58eb\u3068\u76f8\u8ac7\u3057\u306a\u304c\u3089\u3001\u305d\u306e\u65b9\u306b\u5408\u3063\u305f\u904b\u52d5\u3092\u7d9a\u3051\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u5927\u4eba\u306b\u306a\u3063\u3066\u3082\u9aa8\u6298\u306f\u7d9a\u304d\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u591a\u304f\u306e\u578b\u3067\u306f\u3001<strong>\u601d\u6625\u671f\u3092\u904e\u304e\u308b\u3068\u9aa8\u6298\u306e\u983b\u5ea6\u304c\u6e1b\u308b<\/strong>\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u5973\u6027\u3067\u306f\u9589\u7d4c\u5f8c\u306b\u518d\u3073\u5897\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u751f\u6daf\u306b\u308f\u305f\u308b\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3059\u3002\u307e\u305f\u96e3\u8074\u306f\u6210\u4eba\u671f\u306b\u9032\u3080\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001\u8074\u529b\u306e\u78ba\u8a8d\u3092\u7d9a\u3051\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u85ac\u304c\u52b9\u304d\u306b\u304f\u3044\u3068\u8a00\u308f\u308c\u307e\u3057\u305f\u3002<\/h3>\n\n\n<p>A. \u3053\u306e\u578b\u3067\u306f\u3001\u9aa8\u3092\u5f37\u304f\u3059\u308b\u4e00\u822c\u7684\u306a\u85ac\uff08\u30d3\u30b9\u30db\u30b9\u30db\u30cd\u30fc\u30c8\u88fd\u5264\uff09\u306e\u52b9\u679c\u304c\u4e4f\u3057\u3044\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u5225\u306e\u6cbb\u7642\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u306e\u3067\u3001\u5c02\u9580\u65bd\u8a2d\u306b\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\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. \u3053\u306e\u578b\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u305f\u3081\u3001\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>\u591a\u304f\u306e\u9aa8\u5f62\u6210\u4e0d\u5168\u75c7\u306f\u89aa\u304b\u3089\u5b50\u3078\u53d7\u3051\u7d99\u304c\u308c\u308b\u5f62\uff08\u9855\u6027\u907a\u4f1d\uff09\u3067\u3059\u304c\u3001\u3053\u306e\u578b\u306f\u4ed5\u7d44\u307f\u304c\u7570\u306a\u308a\u307e\u3059\u3002<\/strong>\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>Marini JC, Forlino A, B\u00e4chinger HP, et al. Osteogenesis imperfecta. <em>Nat Rev Dis Primers<\/em>. 2017;3:17052.<\/li>\n\n\n\n<li>Forlino A, Marini JC. Osteogenesis imperfecta. <em>Lancet<\/em>. 2016;387(10028):1657-1671.<\/li>\n\n\n\n<li>Van Dijk FS, Sillence DO. Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. <em>Am J Med Genet A<\/em>. 2014;164A(6):1470-1481.<\/li>\n\n\n\n<li>Becker J, Semler O, Gilissen C, et al. Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. <em>Am J Hum Genet<\/em>. 2011;88(3):362-371.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136962","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\/136962","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\/136962\/revisions"}],"predecessor-version":[{"id":137280,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136962\/revisions\/137280"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136962"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}