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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>\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>COQ6<\/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\u306e2\u3064\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>\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>COQ6<\/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>\u30b3\u30a8\u30f3\u30b6\u30a4\u30e0Q10\uff08\u30e6\u30d3\u30ad\u30ce\u30f3\uff09\u306f\u3001<strong>\u30d9\u30f3\u30be\u30ad\u30ce\u30f3\u74b0\u306b10\u500b\u306e\u30a4\u30bd\u30d7\u30ec\u30f3\u5358\u4f4d\u304b\u3089\u306a\u308b\u5074\u9396\u304c\u7d50\u5408\u3057\u305f\u8102\u6eb6\u6027\u5206\u5b50<\/strong>\u3067\u3001\u5185\u819c\u306b\u304a\u3051\u308b\u8907\u5408\u4f53I\u30fbII\u304b\u3089\u8907\u5408\u4f53III\u3078\u306e\u96fb\u5b50\u4f1d\u9054\u3001<strong>\u30b8\u30d2\u30c9\u30ed\u30aa\u30ed\u30c8\u9178\u8131\u6c34\u7d20\u9175\u7d20\uff08\u30d4\u30ea\u30df\u30b8\u30f3 de novo \u5408\u6210\uff09<\/strong>\u3001\u96fb\u5b50\u4f1d\u9054\u30d5\u30e9\u30d3\u30f3\u305f\u3093\u3071\u304f\u8cea\u8131\u6c34\u7d20\u9175\u7d20\uff08\u8102\u80aa\u9178\u03b2\u9178\u5316\uff09\u3001\u305d\u3057\u3066\u8102\u8cea\u904e\u9178\u5316\u306e\u6291\u5236\u306b\u95a2\u4e0e\u3059\u308b\u3002\u751f\u5408\u6210\u306b\u306f<strong>COQ1\u301cCOQ11\u306e\u5c11\u306a\u304f\u3068\u308211\u7a2e\u985e\u306e\u907a\u4f1d\u5b50\u7523\u7269<\/strong>\u304c\u300ccomplex Q\u300d\u3068\u547c\u3070\u308c\u308b\u8907\u5408\u4f53\u3092\u5f62\u6210\u3057\u3066\u95a2\u4e0e\u3059\u308b\u3002<\/p>\n\n\n<p><strong>COQ6<\/strong>\uff0814q24.3\uff09\u306f\u30d5\u30e9\u30d3\u30f3\u4f9d\u5b58\u6027\u30e2\u30ce\u30aa\u30ad\u30b7\u30b2\u30ca\u30fc\u30bc\u3067\u3001CoQ\u751f\u5408\u6210\u306b\u304a\u3051\u308bC5\u6c34\u9178\u5316\u3092\u62c5\u3046\u3002<strong>\u300c\u30b9\u30c6\u30ed\u30a4\u30c9\u62b5\u6297\u6027\u30cd\u30d5\u30ed\u30fc\u30bc\u75c7\u5019\u7fa4\uff0b\u611f\u97f3\u96e3\u8074\u300d\u3068\u3044\u3046\u7d44\u307f\u5408\u308f\u305b\u304c\u672c\u578b\u3092\u5f37\u304f\u793a\u5506\u3059\u308b<\/strong>\u81e8\u5e8a\u7684\u624b\u304c\u304b\u308a\u3067\u3042\u308a\u3001\u3053\u306e\u7d44\u307f\u5408\u308f\u305b\u3092\u307f\u305f\u3089<em>COQ6<\/em>\u306e\u89e3\u6790\u3092\u691c\u8a0e\u3059\u308b\u3002\u814e\u75c5\u7406\u306f\u5de3\u72b6\u5206\u7bc0\u6027\u7cf8\u7403\u4f53\u786c\u5316\u75c7\u304c\u5178\u578b\u3067\u3042\u308b\u3002<strong>\u96e3\u8074\u306f\u4e0d\u53ef\u9006\u3067\u3042\u308b\u304cCoQ10\u88dc\u5145\u306b\u3088\u308a\u86cb\u767d\u5c3f\u304c\u6e1b\u5c11\u3057\u672b\u671f\u814e\u4e0d\u5168\u3078\u306e\u9032\u884c\u3092\u9045\u3089\u305b\u305f\u75c7\u4f8b\u5831\u544a\u304c\u3042\u308b\u305f\u3081\u3001\u8a3a\u65ad\u306e\u9045\u308c\u304c\u76f4\u63a5\u4e88\u5f8c\u306b\u5f71\u97ff\u3059\u308b<\/strong>\u3002\u540c\u69d8\u306b4-\u30d2\u30c9\u30ed\u30ad\u30b7\u5b89\u606f\u9999\u9178\u8a98\u5c0e\u4f53\uff08\u30d0\u30cb\u30ea\u30f3\u9178\u306a\u3069\uff09\u306b\u3088\u308b\u30d0\u30a4\u30d1\u30b9\u7642\u6cd5\u304c\u5b9f\u9a13\u7684\u306b\u691c\u8a0e\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n<p>\u539f\u767a\u6027CoQ10\u6b20\u4e4f\u75c7\u306f<strong>\u300c\u6cbb\u7642\u53ef\u80fd\u306a\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75c5\u300d\u306e\u4ee3\u8868<\/strong>\u3067\u3042\u308a\u3001<strong>\u30b9\u30c6\u30ed\u30a4\u30c9\u62b5\u6297\u6027\u30cd\u30d5\u30ed\u30fc\u30bc\u75c7\u5019\u7fa4\uff08SRNS\uff09\u306e\u907a\u4f1d\u5b50\u8a3a\u65ad\u30d1\u30cd\u30eb\u306b\u306f\u5fc5\u305a<em>COQ2<\/em>\u30fb<em>COQ6<\/em>\u30fb<em>COQ8B<\/em>\uff08ADCK4\uff09\u30fb<em>PDSS2<\/em>\u3092\u542b\u3081\u308b\u3079\u304d<\/strong>\u3067\u3042\u308b\u3002\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u7d9a\u767a\u6027CoQ10\u6b20\u4e4f\uff08<em>ETFDH<\/em>\u306b\u3088\u308b\u591a\u767a\u30ab\u30eb\u30dc\u30ad\u30b7\u30e9\u30fc\u30bc\u6b20\u640d\u69d8\u75c5\u614b\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA\u7570\u5e38\u3001\u52a0\u9f62\u3084\u30b9\u30bf\u30c1\u30f3\u4f7f\u7528\uff09\u304c\u6319\u304c\u308a\u3001<strong>\u7d9a\u767a\u6027\u3067\u3082\u88dc\u5145\u304c\u6709\u52b9\u306a\u5834\u5408\u304c\u3042\u308b<\/strong>\u70b9\u306f\u81e8\u5e8a\u7684\u306b\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. \u5e02\u8ca9\u306e\u30b3\u30a8\u30f3\u30b6\u30a4\u30e0Q10\u3067\u4ee3\u7528\u3067\u304d\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p>A. <strong>\u3067\u304d\u307e\u305b\u3093\u3002<\/strong>\u6cbb\u7642\u3067\u7528\u3044\u308b\u91cf\u306f\u3001\u5e02\u8ca9\u306e\u30b5\u30d7\u30ea\u30e1\u30f3\u30c8\u306b\u542b\u307e\u308c\u308b\u91cf\u3092\u306f\u308b\u304b\u306b\u8d85\u3048\u307e\u3059\u3002\u307e\u305f\u5438\u53ce\u3055\u308c\u3084\u3059\u3044\u88fd\u5264\u306e\u9078\u629e\u3084\u3001\u8840\u4e2d\u6fc3\u5ea6\u3092\u307f\u306a\u304c\u3089\u306e\u8abf\u6574\u304c\u5fc5\u8981\u3067\u3059\u3002\u5fc5\u305a\u4e3b\u6cbb\u533b\u306e\u7ba1\u7406\u306e\u3082\u3068\u3067\u884c\u3063\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u3069\u306e\u304f\u3089\u3044\u3067\u52b9\u679c\u304c\u5206\u304b\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u814e\u81d3\u306e\u75c7\u72b6\uff08\u305f\u3093\u3071\u304f\u5c3f\uff09\u3067\u306f\u3001\u6570\u9031\u9593\u304b\u3089\u6570\u304b\u6708\u3067\u5909\u5316\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u795e\u7d4c\u306e\u75c7\u72b6\u306f\u3001\u6539\u5584\u3088\u308a\u3082<strong>\u9032\u884c\u3092\u9045\u3089\u305b\u308b\u3053\u3068\u304c\u76ee\u6a19<\/strong>\u306b\u306a\u308a\u307e\u3059\u3002\u52b9\u679c\u306e\u5224\u5b9a\u306b\u306f\u6642\u9593\u304c\u304b\u304b\u308b\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u8a55\u4fa1\u3092\u7d9a\u3051\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u98df\u4e8b\u3067\u5897\u3084\u3059\u3053\u3068\u306f\u3067\u304d\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u98df\u4e8b\u304b\u3089\u6442\u308c\u308b\u30b3\u30a8\u30f3\u30b6\u30a4\u30e0Q10\u306f\u3054\u304f\u308f\u305a\u304b\u3067\u3001\u4f53\u5185\u3067\u4f7f\u308f\u308c\u308b\u91cf\u306e\u307b\u3068\u3093\u3069\u306f\u81ea\u5206\u3067\u3064\u304f\u3063\u305f\u3082\u306e\u3067\u3059\u3002<strong>\u98df\u4e8b\u3060\u3051\u3067\u4e0d\u8db3\u3092\u88dc\u3046\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u3002<\/strong><\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u8033\u306e\u805e\u3053\u3048\u3068\u814e\u81d3\u306e\u75c7\u72b6\u304c\u4e00\u7dd2\u306b\u51fa\u3066\u3044\u307e\u3059\u3002<\/h3>\n\n\n<p>A. \u3053\u306e2\u3064\u304c\u540c\u6642\u306b\u307f\u3089\u308c\u308b\u5834\u5408\u3001\u3053\u306e\u75c5\u6c17\u306e\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u30b3\u30a8\u30f3\u30b6\u30a4\u30e0Q10\u306e\u88dc\u5145\u304c\u814e\u81d3\u306e\u60aa\u5316\u3092\u9632\u3052\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001\u65e9\u3081\u306e\u8a3a\u65ad\u304c\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<strong>\u3053\u306e\u75c5\u6c17\u306f\u65e9\u671f\u6cbb\u7642\u3067\u7d4c\u904e\u304c\u5909\u308f\u308a\u3046\u308b\u305f\u3081\u3001\u3054\u304d\u3087\u3046\u3060\u3044\u306e\u691c\u67fb\u306b\u3064\u3044\u3066\u3082\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>Alc\u00e1zar-Fabra M, Trevisson E, Brea-Calvo G. Clinical syndromes associated with coenzyme Q10 deficiency. <em>Essays Biochem<\/em>. 2018;62(3):377-398.<\/li>\n\n\n\n<li>Desbats MA, Lunardi G, Doimo M, Trevisson E, Salviati L. Genetic bases and clinical manifestations of coenzyme Q10 (CoQ10) deficiency. <em>J Inherit Metab Dis<\/em>. 2015;38(1):145-156.<\/li>\n\n\n\n<li>Emmanuele V, L\u00f3pez LC, Berardo A, et al. Heterogeneity of coenzyme Q10 deficiency: patient study and literature review. <em>Arch Neurol<\/em>. 2012;69(8):978-983.<\/li>\n\n\n\n<li>Heeringa SF, Chernin G, Chaki M, et al. COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. <em>J Clin Invest<\/em>. 2011;121(5):2013-2024.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136968","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\/136968","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\/136968\/revisions"}],"predecessor-version":[{"id":137286,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136968\/revisions\/137286"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136968"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}