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class=\"wp-block-paragraph\">SLC16A2 \u907a\u4f1d\u5b50\u306e\u5909\u5316\u3067\u8d77\u3053\u308b\u75c5\u6c17\u306f\u3001\u307b\u307c\u3053\u306e\u75c7\u5019\u7fa4\u306b\u9650\u3089\u308c\u307e\u3059\u3002\u305f\u3060\u3057\u3001<strong>\u904b\u3073\u5c4b\u306e\u306f\u305f\u3089\u304d\u304c\u3069\u306e\u7a0b\u5ea6\u6b8b\u3063\u3066\u3044\u308b\u304b\u306b\u3088\u3063\u3066\u91cd\u3055\u306b\u306f\u5e45\u304c\u3042\u308a\u307e\u3059\u3002\u591a\u304f\u306f\u6b69\u304f\u3053\u3068\u3084\u8a71\u3059\u3053\u3068\u304c\u96e3\u3057\u3044\u91cd\u3044\u578b\u3067\u3059\u304c\u3001\u4e00\u90e8\u306b\u306f\u652f\u3048\u304c\u3042\u308c\u3070\u6b69\u3051\u308b\u3001\u7c21\u5358\u306a\u3053\u3068\u3070\u3092\u8a71\u305b\u308b\u8efd\u3044\u578b\u3082\u3042\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>SLC16A2<\/strong> \u907a\u4f1d\u5b50\u304c\u3064\u304f\u308b <strong>MCT8<\/strong> 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\u67d3\u8272\u4f53\u30921\u672c\u3057\u304b\u6301\u305f\u306a\u3044\u305f\u3081\u3001\u305d\u306e1\u672c\u306b\u5909\u5316\u304c\u3042\u308b\u3068\u767a\u75c7\u3057\u307e\u3059\u3002\u5973\u306e\u5b50\u306f X 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\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u898b\u3064\u304b\u308a\u307e\u3059\u3002\u304a\u6bcd\u3055\u307e\u304c\u30ad\u30e3\u30ea\u30a2\u304b\u3069\u3046\u304b\u3082\u8abf\u3079\u308b\u3053\u3068\u3067\u3001<strong>\u6b21\u306e\u304a\u5b50\u3055\u307e\u3084\u3054\u89aa\u65cf\u306e\u898b\u901a\u3057\u3092\u6b63\u3057\u304f\u304a\u4f1d\u3048\u3067\u304d\u308b\u305f\u3081\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u78ba\u5b9a\u3059\u308b\u3053\u3068\u306b\u306f\u5927\u304d\u306a\u610f\u5473\u304c\u3042\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u73fe\u6642\u70b9\u3067\u3001\u3053\u306e\u75c5\u6c17\u3092\u6839\u672c\u304b\u3089\u6cbb\u3059\u6cbb\u7642\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u8fd1\u5e74\u3001MCT8 \u304c\u306a\u304f\u3066\u3082\u7d30\u80de\u306b\u5165\u308b\u3053\u3068\u306e\u3067\u304d\u308b\u3001\u7532\u72b6\u817a\u30db\u30eb\u30e2\u30f3\u306b\u4f3c\u305f\u304a\u85ac\uff08\u30c1\u30e9\u30c8\u30ea\u30b3\u30fc\u30eb\uff09\u306e\u81e8\u5e8a\u8a66\u9a13\u304c\u884c\u308f\u308c\u307e\u3057\u305f\u3002<strong>\u4f53\u3067\u30db\u30eb\u30e2\u30f3\u304c\u52b9\u304d\u3059\u304e\u3066\u3044\u308b\u72b6\u614b\u3092\u548c\u3089\u3052\u3001\u4f53\u91cd\u3084\u8108\u62cd\u304c\u6539\u5584\u3057\u305f<\/strong>\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u8133\u306e\u767a\u9054\u3078\u306e\u52b9\u679c\u306f\u3001\u65e9\u3044\u6642\u671f\u304b\u3089\u4f7f\u3063\u305f\u5834\u5408\u3082\u542b\u3081\u3066\u3001\u307e\u3060\u8abf\u3079\u3089\u308c\u3066\u3044\u308b\u6bb5\u968e\u3067\u3059\u3002<\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7532\u72b6\u817a\u30db\u30eb\u30e2\u30f3\u306e\u72b6\u614b\u306e\u7ba1\u7406<\/strong>\uff1a\u5c02\u9580\u533b\u306e\u3082\u3068\u3067\u3001\u4f53\u306e\u30db\u30eb\u30e2\u30f3\u904e\u5270\u3092\u548c\u3089\u3052\u308b\u6cbb\u7642\u3092\u691c\u8a0e\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u6804\u990a\u306e\u652f\u63f4<\/strong>\uff1a\u98f2\u307f\u8fbc\u307f\u306b\u304f\u3055\u3084\u4f53\u91cd\u306e\u5897\u3048\u306b\u304f\u3055\u306b\u5bfe\u3057\u3066\u3001\u98df\u4e8b\u306e\u5de5\u592b\u3084\u7d4c\u7ba1\u6804\u990a\uff08\u80c3\u308d\u3046\u306a\u3069\uff09\u3092\u884c\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong>\uff1a\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\u3067\u59ff\u52e2\u3084\u95a2\u7bc0\u306e\u52d5\u304d\u3092\u4fdd\u3061\u3001\u3064\u3063\u3071\u308a\u3084\u5074\u5f2f\u3092\u548c\u3089\u3052\u307e\u3059<\/li>\n\n\n\n<li><strong>\u547c\u5438\u3068\u611f\u67d3\u75c7\u3078\u306e\u5bfe\u7b56<\/strong>\uff1a\u8aa4\u56a5\u6027\u80ba\u708e\u3092\u4e88\u9632\u3057\u3001\u304b\u304b\u3063\u305f\u3068\u304d\u306f\u65e9\u3081\u306b\u6cbb\u7642\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u5fc3\u81d3\u30fb\u8840\u5727\u306e\u5b9a\u671f\u7684\u306a\u78ba\u8a8d<\/strong>\u3068\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u3042\u308b\u3068\u304d\u306e\u85ac\u306b\u3088\u308b\u6cbb\u7642<\/li>\n\n\n\n<li><strong>\u3054\u5bb6\u65cf\u3078\u306e\u652f\u63f4<\/strong>\uff1a\u533b\u7642\u7684\u30b1\u30a2\u3084\u798f\u7949\u30b5\u30fc\u30d3\u30b9\u306e\u5229\u7528\u3092\u542b\u3081\u3001\u9577\u304f\u7d9a\u304f\u751f\u6d3b\u3092\u652f\u3048\u307e\u3059<\/li>\n\n\n<\/ul>\n\n\n<h2 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>SLC16A2<\/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>SLC16A2<\/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\">X\u9023\u9396\u6f5c\u6027\u907a\u4f1d\u306e\u75be\u60a3\u3067\u306f\u3001\u304a\u6bcd\u3055\u307e\u304c\u75c7\u72b6\u306e\u306a\u3044\u300c\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u300d\u3067\u3042\u308b\u3068\u304d\u306b\u3001<strong>\u7537\u306e\u5b50\u306e2\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u304a\u5b50\u3055\u307e\u304c\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>SLC16A2<\/strong>\uff08Xq13.2\uff09\u306f<strong>\u30e2\u30ce\u30ab\u30eb\u30dc\u30f3\u9178\u30c8\u30e9\u30f3\u30b9\u30dd\u30fc\u30bf\u30fc8\uff08MCT8\uff09<\/strong>\u3092\u30b3\u30fc\u30c9\u3057\u3001T4 \u3068 T3 \u306b\u9ad8\u3044\u7279\u7570\u6027\u3092\u3082\u3064<strong>\u7532\u72b6\u817a\u30db\u30eb\u30e2\u30f3\u306e\u7d30\u80de\u819c\u8f38\u9001\u4f53<\/strong>\u3067\u3042\u308b\u3002\u8840\u6db2\u8133\u95a2\u9580\u306e\u5185\u76ae\u7d30\u80de\u3084\u795e\u7d4c\u7d30\u80de\u306b\u767a\u73fe\u3057\u3001\u4e2d\u67a2\u795e\u7d4c\u3078\u306e\u7532\u72b6\u817a\u30db\u30eb\u30e2\u30f3\u4f9b\u7d66\u3092\u62c5\u3046\u3002\u6a5f\u80fd\u55aa\u5931\u306b\u3088\u308a\u3001<strong>\u8133\u5185\u306f\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u3001\u672b\u68a2\u306f\u7532\u72b6\u817a\u4e2d\u6bd2\u3068\u3044\u3046\u89e3\u96e2\u3057\u305f\u75c5\u614b<\/strong>\u3068\u306a\u308b\u3002<strong>\u8840\u6e05 T3 \u9ad8\u5024\u3001T4\u30fb\u904a\u96e2 T4 \u4f4e\u5024\u3001\u30ea\u30d0\u30fc\u30b9 T3 \u4f4e\u5024\u3001TSH \u6b63\u5e38\u301c\u8efd\u5ea6\u9ad8\u5024<\/strong>\u304c\u7279\u5fb4\u7684\u3067\u3001\u672b\u68a2\u7d44\u7e54\u3067\u306e\u8131\u30e8\u30a6\u7d20\u5316\u306e\u4ea2\u9032\u304c\u95a2\u4e0e\u3059\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">1944\u5e74\u306b\u30a2\u30e9\u30f3\u3001\u30cf\u30fc\u30f3\u30c9\u30f3\u3001\u30c0\u30c9\u30ea\u30fc\u304c X \u9023\u9396\u6027\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u5bb6\u7cfb\u3068\u3057\u3066\u5831\u544a\u3057\u3001<strong>2004\u5e74\u306b SLC16A2 \u5909\u7570\u304c\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u304c\u793a\u3055\u308c\u305f<\/strong>\u3002\u8868\u73fe\u578b\u306f<strong>\u53e4\u5178\u7684\u91cd\u75c7\u578b\uff08\u5b9a\u9838\u30fb\u5ea7\u4f4d\u30fb\u6b69\u884c\u30fb\u6709\u610f\u8a9e\u306e\u7372\u5f97\u306a\u3057\uff09\u304c\u5927\u534a<\/strong>\u3092\u5360\u3081\u3001\u6b8b\u5b58\u8f38\u9001\u6d3b\u6027\u3092\u3082\u3064\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u3067\u306f<strong>\u4ecb\u52a9\u6b69\u884c\u3084\u6709\u610f\u8a9e\u304c\u53ef\u80fd\u306a\u8efd\u75c7\u578b<\/strong>\u304c\u307f\u3089\u308c\u308b\u3002\u56fd\u969b\u30b3\u30db\u30fc\u30c8\u7814\u7a76\u3067\u306f\u3001<strong>\u4f4e\u4f53\u91cd\u3068\u547c\u5438\u5668\u611f\u67d3\u304c\u4e88\u5f8c\u306b\u95a2\u308f\u308a\u3001\u5c0f\u5150\u671f\u306e\u6b7b\u4ea1\u3082\u5c11\u306a\u304f\u306a\u3044<\/strong>\u3053\u3068\u304c\u793a\u3055\u308c\u3066\u3044\u308b\u3002\u5973\u6027\u30d8\u30c6\u30ed\u63a5\u5408\u4f53\u306f\u901a\u5e38\u7121\u75c7\u72b6\u3060\u304c\u3001\u8efd\u5ea6\u306e\u7532\u72b6\u817a\u6a5f\u80fd\u691c\u67fb\u5024\u7570\u5e38\u3092\u793a\u3059\u3053\u3068\u304c\u3042\u308b\u3002X \u67d3\u8272\u4f53\u306e\u504f\u3063\u305f\u4e0d\u6d3b\u5316\u3084\u69cb\u9020\u7570\u5e38\u306b\u3088\u3063\u3066\u5973\u6027\u304c\u767a\u75c7\u3057\u305f\u4f8b\u3082\u307e\u308c\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u6cbb\u7642\u3067\u306f\u3001<strong>MCT8 \u306b\u4f9d\u5b58\u305b\u305a\u7d30\u80de\u5185\u3078\u5165\u308b T3 \u30a2\u30ca\u30ed\u30b0\u306e\u30c1\u30e9\u30c8\u30ea\u30b3\u30fc\u30eb<\/strong>\u306e\u56fd\u969b\u7b2c2\u76f8\u8a66\u9a13\u3067\u3001\u8840\u6e05 T3 \u306e\u4f4e\u4e0b\u3068\u672b\u68a2\u306e\u7532\u72b6\u817a\u4e2d\u6bd2\u75c7\u72b6\uff08\u4f53\u91cd\u3001\u5fc3\u62cd\u6570\u306a\u3069\uff09\u306e\u6539\u5584\u304c\u793a\u3055\u308c\u305f\u3002\u795e\u7d4c\u767a\u9054\u3078\u306e\u52b9\u679c\u306f\u65e9\u671f\u6295\u4e0e\u4f8b\u3092\u542b\u3081\u3066\u691c\u8a0e\u304c\u7d9a\u3044\u3066\u3044\u308b\u3002\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u30da\u30ea\u30c4\u30a7\u30a6\u30b9\u30fb\u30e1\u30eb\u30c4\u30d0\u30c3\u30cf\u75c5\uff08<em>PLP1<\/em>\u3001X\u9023\u9396\uff09\u306a\u3069\u9ac4\u9798\u5f62\u6210\u4e0d\u5168\u3092\u793a\u3059\u75be\u60a3\u3001\u8133\u6027\u9ebb\u75fa\u3001\u307b\u304b\u306e\u5148\u5929\u4ee3\u8b1d\u7570\u5e38\u304c\u6319\u304c\u308b\u3002<strong>\u7532\u72b6\u817a\u6a5f\u80fd\u691c\u67fb\u306e\u7279\u5fb4\u7684\u306a\u30d1\u30bf\u30fc\u30f3\u304c\u9451\u5225\u306e\u9375\u3067\u3042\u308a\u3001\u6bcd\u89aa\u306e\u4fdd\u56e0\u8005\u8a3a\u65ad\u306b\u3088\u3063\u3066\u6b21\u5b50\u518d\u767a\u7387\uff08\u7537\u5150\u306e50%\u304b\u3001\u65b0\u751f\u7a81\u7136\u5909\u7570\u306a\u3089\u3054\u304f\u308f\u305a\u304b\uff09\u304c\u5927\u304d\u304f\u5909\u308f\u308b\u305f\u3081\u3001\u907a\u4f1d\u5b50\u8a3a\u65ad\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u76f4\u7d50\u3059\u308b\u3002<\/strong><\/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\u306fX\u9023\u9396\u6f5c\u6027\u907a\u4f1d\u306e\u305f\u3081\u3001\u304a\u6bcd\u3055\u307e\u304c\u30ad\u30e3\u30ea\u30a2\u306e\u5834\u5408\u3001\u7537\u306e\u5b50\u306f\u304a\u5b50\u3055\u307e\u3054\u3068\u306b2\u5206\u306e1\u306e\u78ba\u7387\u3067\u767a\u75c7\u3057\u3001\u5973\u306e\u5b50\u306f2\u5206\u306e1\u306e\u78ba\u7387\u3067\u30ad\u30e3\u30ea\u30a2\u306b\u306a\u308a\u307e\u3059\u3002<\/strong>\u304a\u6bcd\u3055\u307e\u304c\u30ad\u30e3\u30ea\u30a2\u3067\u306f\u306a\u304f\u3001\u304a\u5b50\u3055\u307e\u306b\u65b0\u305f\u306b\u5909\u5316\u304c\u8d77\u304d\u305f\u5834\u5408\u306e\u518d\u767a\u7387\u306f\u3054\u304f\u308f\u305a\u304b\u3067\u3059\u3002<strong>\u518d\u767a\u7387\u304c\u5927\u304d\u304f\u7570\u306a\u308b\u305f\u3081\u3001\u304a\u6bcd\u3055\u307e\u304c\u30ad\u30e3\u30ea\u30a2\u304b\u3069\u3046\u304b\u3092\u8abf\u3079\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/strong><\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u598a\u5a20\u4e2d\u306b\u5206\u304b\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u75c5\u6c17\u306f\u3001\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u306f\u307b\u3068\u3093\u3069\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u3054\u5bb6\u65cf\u306b\u3053\u306e\u75c5\u6c17\u306e\u65b9\u304c\u3044\u3066\u3001\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u308f\u304b\u3063\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u51fa\u751f\u524d\u691c\u67fb\u3092\u691c\u8a0e\u3067\u304d\u307e\u3059\u3002\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u7532\u72b6\u817a\u306e\u75c5\u6c17\u306a\u3089\u3001\u7532\u72b6\u817a\u306e\u304a\u85ac\u3067\u6cbb\u308a\u307e\u305b\u3093\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u75c5\u6c17\u306f\u7532\u72b6\u817a\u305d\u306e\u3082\u306e\u3067\u306f\u306a\u304f\u3001\u30db\u30eb\u30e2\u30f3\u3092\u8133\u306b\u904b\u3076\u3057\u304f\u307f\u306e\u75c5\u6c17\u3067\u3059\u3002<\/strong>\u901a\u5e38\u306e\u7532\u72b6\u817a\u30db\u30eb\u30e2\u30f3\u5264\u3092\u98f2\u3093\u3067\u3082\u8133\u306b\u306f\u5c4a\u304d\u306b\u304f\u304f\u3001\u4f53\u306e\u30db\u30eb\u30e2\u30f3\u904e\u5270\u3092\u304b\u3048\u3063\u3066\u5f37\u3081\u308b\u304a\u305d\u308c\u304c\u3042\u308a\u307e\u3059\u3002\u6cbb\u7642\u306f\u5fc5\u305a\u5c02\u9580\u533b\u3068\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u5973\u306e\u5b50\u3067\u3082\u767a\u75c7\u3057\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u5973\u306e\u5b50\u306f\u591a\u304f\u306e\u5834\u5408\u3001\u75c7\u72b6\u306e\u306a\u3044\u30ad\u30e3\u30ea\u30a2\u3067\u3059\u3002<\/strong>\u7532\u72b6\u817a\u30db\u30eb\u30e2\u30f3\u306e\u5024\u304c\u308f\u305a\u304b\u306b\u5909\u5316\u3059\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u3075\u3064\u3046\u306f\u767a\u9054\u3078\u306e\u5f71\u97ff\u306f\u307f\u3089\u308c\u307e\u305b\u3093\u3002\u3054\u304f\u307e\u308c\u306b\u3001X \u67d3\u8272\u4f53\u306e\u7279\u6b8a\u306a\u4e8b\u60c5\u306b\u3088\u3063\u3066\u5973\u306e\u5b50\u304c\u767a\u75c7\u3057\u305f\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\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>Dumitrescu AM, Liao XH, Best TB, Brockmann K, Refetoff S. A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. <em>Am J Hum Genet<\/em>. 2004;74(1):168-175.<\/li>\n\n\n\n<li>Schwartz CE, May MM, Carpenter NJ, et al. Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. <em>Am J Hum Genet<\/em>. 2005;77(1):41-53.<\/li>\n\n\n\n<li>Groeneweg S, Peeters RP, Moran C, et al. Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial. <em>Lancet Diabetes Endocrinol<\/em>. 2019;7(9):695-706.<\/li>\n\n\n\n<li>Groeneweg S, van Geest FS, Abac\u0131 A, et al. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study. <em>Lancet Diabetes Endocrinol<\/em>. 2020;8(7):594-605.<\/li>\n\n\n\n<li>OMIM #300523 Allan-Herndon-Dudley syndrome; AHDS. 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-147636","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\/147636","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\/147636\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147636"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}