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class=\"wp-block-heading\">\u3053\u306e\u75be\u60a3\u306f\u691c\u67fb\u3067\u308f\u304b\u308a\u307e\u3059<\/h2>\n\n\n<p class=\"wp-block-paragraph\">\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>LPIN1<\/strong> \u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u3053\u3068\u3067\u3001\u767a\u75c7\u524d\u3084\u51fa\u751f\u524d\u306b\u898b\u3064\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u6b21\u306e\u691c\u67fb\u3092\u3054\u7528\u610f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<h3 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 class=\"wp-block-paragraph\">\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>LPIN1<\/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<p class=\"wp-block-paragraph\">\u3053\u306e\u75be\u60a3\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u305f\u3081\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>\u304a\u5b50\u3055\u307e\u3054\u3068\u306b4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u691c\u67fb\u306e\u5185\u5bb9\u30fb\u8cbb\u7528\u30fb\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f <a href=\"\/nipt\/nipt\/carrier-screening-1200\/\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c81,200\uff0b\u306e\u30da\u30fc\u30b8<\/a> \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 class=\"wp-block-paragraph\"><strong>LPIN1<\/strong> \u304c\u30b3\u30fc\u30c9\u3059\u308b\u30ea\u30d4\u30f31\u306f\u3001<strong>\u30db\u30b9\u30d5\u30a1\u30c1\u30b8\u30f3\u9178\u3092\u30b8\u30a2\u30b7\u30eb\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\u3078\u5909\u63db\u3059\u308bMg\u00b2\u207a\u4f9d\u5b58\u6027\u30db\u30b9\u30d5\u30a1\u30c1\u30b8\u30f3\u9178\u30db\u30b9\u30d5\u30a1\u30bf\u30fc\u30bc\uff08PAP1\uff09<\/strong>\u3067\u3042\u308a\u3001\u30c8\u30ea\u30a2\u30b7\u30eb\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\u304a\u3088\u3073\u30ea\u30f3\u8102\u8cea\u5408\u6210\u306e\u8981\u3068\u306a\u308b\u3002\u52a0\u3048\u3066\u6838\u5185\u3067\u306f PGC-1\u03b1\uff0fPPAR\u03b1 \u306e\u8ee2\u5199\u5171\u5f79\u56e0\u5b50\u3068\u3057\u3066\u8102\u80aa\u9178\u9178\u5316\u907a\u4f1d\u5b50\u306e\u767a\u73fe\u306b\u3082\u95a2\u4e0e\u3059\u308b\u3002\u9aa8\u683c\u7b4b\u3067\u767a\u73fe\u304c\u9ad8\u304f\u3001<strong>\u6b20\u640d\u306b\u3088\u308a\u7b4b\u7d30\u80de\u5185\u306e\u30db\u30b9\u30d5\u30a1\u30c1\u30b8\u30f3\u9178\u30fb\u30ea\u30be\u30ea\u30f3\u8102\u8cea\u306e\u84c4\u7a4d\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6a5f\u80fd\u969c\u5bb3\u3001\u5c0f\u80de\u4f53\u30b9\u30c8\u30ec\u30b9\u306a\u3069\u304c\u751f\u3058\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b<\/strong>\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">2008\u5e74\u306b Zeharia \u3089\u304c\u5c0f\u5150\u671f\u53cd\u5fa9\u6027\u30df\u30aa\u30b0\u30ed\u30d3\u30f3\u5c3f\u75c7\u306e\u539f\u56e0\u3068\u3057\u3066\u5831\u544a\u3057\u305f\u3002<strong>\u521d\u767a\u306f\u591a\u304f\u304c6\u6b73\u672a\u6e80\u3067\u3001\u767a\u71b1\u3092\u4e3b\u306a\u8a98\u56e0\u3068\u3057\u3066CK\u304c\u6570\u4e07\u301c\u6570\u5341\u4e07 IU\/L \u306b\u9054\u3059\u308b\u91cd\u75c7\u6a2a\u7d0b\u7b4b\u878d\u89e3\u3092\u8d77\u3053\u3057\u3001\u767a\u4f5c\u6642\u306e\u6b7b\u4ea1\u7387\u306f\u7d043\u5206\u306e1\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u308b<\/strong>\u3002\u6b27\u5dde\u7cfb\u96c6\u56e3\u3067\u306f<strong>\u30a8\u30af\u30bd\u30f318\u3092\u542b\u3080\u6b20\u5931\uff08c.2295-866_2410-30del\uff09\u304c\u9ad8\u983b\u5ea6\u306b\u307f\u3089\u308c\u308b<\/strong>\u3002\u30d8\u30c6\u30ed\u63a5\u5408\u4f53\u4fdd\u56e0\u8005\u306e\u4e00\u90e8\u3067\u904b\u52d5\u8a98\u767a\u6027\u7b4b\u75db\u3084\u30b9\u30bf\u30c1\u30f3\u95a2\u9023\u30df\u30aa\u30d1\u30c1\u30fc\u3068\u306e\u95a2\u9023\u304c\u6307\u6458\u3055\u308c\u3066\u3044\u308b\u304c\u3001\u78ba\u7acb\u3057\u3066\u3044\u306a\u3044\u3002\u306a\u304a\u3001\u30de\u30a6\u30b9\u306e <em>Lpin1<\/em> \u6b20\u640d\uff08fld \u30de\u30a6\u30b9\uff09\u306f\u8102\u80aa\u7570\u6804\u990a\u75c7\u3092\u5448\u3059\u308b\u304c\u3001<strong>\u30d2\u30c8\u306e LPIN1 \u4e21\u30a2\u30ec\u30eb\u5909\u7570\u3067\u306f\u8102\u80aa\u7570\u6804\u990a\u75c7\u306f\u307f\u3089\u308c\u305a\u3001\u7b4b\u75c7\u72b6\u304c\u4e3b\u4f53\u3067\u3042\u308b<\/strong>\u70b9\u306b\u6ce8\u610f\u3092\u8981\u3059\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u30ab\u30eb\u30cb\u30c1\u30f3\u30d1\u30eb\u30df\u30c8\u30a4\u30eb\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bcII\u6b20\u640d\u75c7\uff08<em>CPT2<\/em>\uff09\u3001\u6975\u9577\u9396\u30a2\u30b7\u30ebCoA\u8131\u6c34\u7d20\u9175\u7d20\u6b20\u640d\u75c7\uff08<em>ACADVL<\/em>\uff09\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u4e09\u982d\u9175\u7d20\u6b20\u640d\u75c7\uff08<em>HADHA<\/em>\/<em>HADHB<\/em>\uff09\u3001<em>RYR1<\/em> \u95a2\u9023\u6a2a\u7d0b\u7b4b\u878d\u89e3\u75c7\u3001<em>TANGO2<\/em> \u95a2\u9023\u75be\u60a3\u3001\u7b4b\u578b\u7cd6\u539f\u75c5\uff08<em>PYGM<\/em> \u306a\u3069\uff09\u304c\u6319\u304c\u308b\u3002<strong>\u8102\u80aa\u9178\u9178\u5316\u7570\u5e38\u75c7\u3067\u306f\u30a2\u30b7\u30eb\u30ab\u30eb\u30cb\u30c1\u30f3\u5206\u6790\u3067\u7570\u5e38\u3092\u793a\u3059\u3053\u3068\u304c\u591a\u3044\u304c\u3001LPIN1 \u6b20\u640d\u75c7\u3067\u306f\u901a\u5e38\u7570\u5e38\u304c\u306a\u304f\u3001\u907a\u4f1d\u5b50\u89e3\u6790\u304c\u8a3a\u65ad\u306e\u6c7a\u3081\u624b\u3068\u306a\u308b<\/strong>\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. \u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u75c5\u6c17\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>\u30ad\u30e3\u30ea\u30a2\u3067\u3042\u308b\u304a\u7236\u3055\u307e\u30fb\u304a\u6bcd\u3055\u307e\u3054\u81ea\u8eab\u306b\u306f\u3001\u901a\u5e38\u306f\u76ee\u7acb\u3063\u305f\u75c7\u72b6\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u751f\u307e\u308c\u305f\u3068\u304d\u304b\u3089\u75c7\u72b6\u304c\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u751f\u307e\u308c\u305f\u3068\u304d\u306b\u306f\u75c7\u72b6\u304c\u306a\u304f\u3001\u591a\u304f\u306f\u5e7c\u5150\u671f\u306b\u304b\u305c\u306a\u3069\u3067\u71b1\u304c\u51fa\u305f\u3068\u304d\u306b\u3001\u6700\u521d\u306e\u767a\u4f5c\u3067\u6c17\u3065\u304b\u308c\u307e\u3059\u3002<\/strong>\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u898b\u3064\u304b\u308b\u75c5\u6c17\u3067\u306f\u306a\u3044\u305f\u3081\u3001\u51fa\u751f\u524d\u306b\u77e5\u308b\u306b\u306f\u907a\u4f1d\u5b50\u306e\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u767a\u4f5c\u3092\u9632\u3050\u305f\u3081\u306b\u5bb6\u5ead\u3067\u3067\u304d\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u71b1\u304c\u51fa\u305f\u3068\u304d\u306b\u65e9\u3081\u306b\u53d7\u8a3a\u3057\u3001\u6c34\u5206\u3068\u7cd6\u5206\u3092\u3068\u3063\u3066\u9577\u3044\u7d76\u98df\u3092\u907f\u3051\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/strong>\u5c3f\u306e\u8272\u304c\u6fc3\u304f\u306a\u3063\u305f\u3001\u624b\u8db3\u3092\u75db\u304c\u3063\u3066\u52d5\u304b\u3055\u306a\u3044\u3068\u3044\u3063\u305f\u5909\u5316\u304c\u3042\u308c\u3070\u3001\u3059\u3050\u306b\u533b\u7642\u6a5f\u95a2\u3092\u53d7\u8a3a\u3057\u3066\u304f\u3060\u3055\u3044\u3002\u4e3b\u6cbb\u533b\u3068\u4e8b\u524d\u306b\u5bfe\u5fdc\u3092\u6c7a\u3081\u3066\u304a\u304f\u3068\u5b89\u5fc3\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u5927\u4eba\u306b\u306a\u3063\u3066\u3082\u767a\u4f5c\u306f\u7d9a\u304d\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u6210\u9577\u3068\u3068\u3082\u306b\u767a\u4f5c\u306e\u56de\u6570\u304c\u6e1b\u308b\u65b9\u3082\u3044\u307e\u3059\u304c\u3001\u6210\u4eba\u306b\u306a\u3063\u3066\u304b\u3089\u767a\u4f5c\u3092\u8d77\u3053\u3057\u305f\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/strong>\u767a\u4f5c\u306e\u306a\u3044\u6642\u671f\u306f\u3075\u3060\u3093\u3069\u304a\u308a\u306b\u751f\u6d3b\u3067\u304d\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u304d\u3063\u304b\u3051\u3092\u907f\u3051\u308b\u5de5\u592b\u3092\u7d9a\u3051\u308b\u3053\u3068\u304c\u52e7\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u306f\u4f55\u3092\u76f8\u8ac7\u3067\u304d\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u8a3a\u65ad\u306e\u610f\u5473\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u3001\u51fa\u751f\u524d\u691c\u67fb\u3084\u7740\u5e8a\u524d\u691c\u67fb\u306e\u9078\u629e\u80a2\u3001\u3054\u304d\u3087\u3046\u3060\u3044\u3084\u3054\u89aa\u65cf\u3078\u306e\u5f71\u97ff\u306a\u3069\u3092\u3054\u76f8\u8ac7\u3044\u305f\u3060\u3051\u307e\u3059\u3002\u5224\u65ad\u3092\u6025\u304c\u305b\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\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>Zeharia A, Shaag A, Houtkooper RH, et al. Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood. <em>Am J Hum Genet<\/em>. 2008;83(4):489-494.<\/li>\n\n\n\n<li>Michot C, Hubert L, Brivet M, et al. LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood. <em>Hum Mutat<\/em>. 2010;31(7):E1564-E1573.<\/li>\n\n\n\n<li>Michot C, Hubert L, Romero NB, et al. Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia. <em>J Inherit Metab Dis<\/em>. 2012;35(6):1119-1128.<\/li>\n\n\n\n<li>OMIM #268200 Myoglobinuria, acute recurrent, autosomal recessive. Online Mendelian Inheritance in Man.<\/li>\n\n\n\n<li>OMIM *605518 Lipin 1; LPIN1. Online Mendelian Inheritance in Man.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-158738","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\/158738","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":0,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/158738\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=158738"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}