{"id":136834,"date":"2026-09-08T12:24:03","date_gmt":"2026-09-08T03:24:03","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=136834"},"modified":"2026-09-08T12:24:03","modified_gmt":"2026-09-08T03:24:03","slug":"hypomyelinating-leukodystrophy-7-with-or-without-oligodontiaand-or-hypogonadotropic-hypogonadism-polr3a","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hypomyelinating-leukodystrophy-7-with-or-without-oligodontiaand-or-hypogonadotropic-hypogonadism-polr3a\/","title":{"rendered":"\u4f4e\u9ac4\u9798\u5316\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc7\u578b\uff08\u6b20\u6b6f\u30fb\u4f4e\u30b4\u30ca\u30c9\u30c8\u30ed\u30d4\u30f3\u6027\u6027\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u3092\u4f34\u3046\u5834\u5408\u3068\u4f34\u308f\u306a\u3044\u5834\u5408\uff09"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n\n<p>\u4f4e\u9ac4\u9798\u5316\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc7\u578b\uff08\u6b20\u6b6f\u30fb\u4f4e\u30b4\u30ca\u30c9\u30c8\u30ed\u30d4\u30f3\u6027\u6027\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u3092\u4f34\u3046\u5834\u5408\u3068\u4f34\u308f\u306a\u3044\u5834\u5408\uff09\u306f\u3001\u795e\u7d4c\u306e\u7dda\u7dad\u3092\u5305\u3080<strong>\u300c\u9ac4\u9798\uff08\u30df\u30a8\u30ea\u30f3\uff09\u300d\u304c\u5341\u5206\u306b\u4f5c\u3089\u308c\u306a\u3044<\/strong>\u305f\u3081\u306b\u3001\u904b\u52d5\u3084\u77e5\u7684\u306a\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u306b\u306a\u308a\u3001\u4f53\u306e\u3064\u3063\u3071\u308a\u3084\u3075\u3089\u3064\u304d\u304c\u73fe\u308c\u308b\u75c5\u6c17\u3067\u3059\u3002\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u3001<strong>POLR3A<\/strong> \u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9ac4\u9798\u306f\u795e\u7d4c\u306e\u4fe1\u53f7\u3092\u901f\u304f\u4f1d\u3048\u308b\u305f\u3081\u306e\u300c\u96fb\u7dda\u306e\u88ab\u8986\u300d\u306b\u3042\u305f\u308a\u307e\u3059\u3002<strong>\u300c\u4f4e\u9ac4\u9798\u5316\u300d\u306f\u3001\u3044\u3063\u305f\u3093\u3067\u304d\u305f\u9ac4\u9798\u304c\u58ca\u308c\u308b\u306e\u3067\u306f\u306a\u304f\u3001\u306f\u3058\u3081\u304b\u3089\u5341\u5206\u306b\u4f5c\u3089\u308c\u306a\u3044<\/strong>\u72b6\u614b\u3092\u6307\u3057\u3001\u982d\u90e8MRI\u3067\u5224\u65ad\u3057\u307e\u3059\u3002\u539f\u56e0\u907a\u4f1d\u5b50\u306f20\u4ee5\u4e0a\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n\n<p><strong>POLR3A<\/strong> \u907a\u4f1d\u5b50\u306f\u3001\u9ac4\u9798\u3092\u4f5c\u308b\u7d30\u80de\uff08\u30aa\u30ea\u30b4\u30c7\u30f3\u30c9\u30ed\u30b5\u30a4\u30c8\uff09\u304c\u306f\u305f\u3089\u304f\u305f\u3081\u306b\u5fc5\u8981\u306a\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>POLR3A<\/strong> \u306f\u3001\u7d30\u80de\u306e\u306a\u304b\u3067<strong>\u5c0f\u3055\u306aRNA\uff08tRNA\u306a\u3069\uff09\u3092\u4f5c\u308b\u9175\u7d20\uff08RNA\u30dd\u30ea\u30e1\u30e9\u30fc\u30bcIII\uff09<\/strong>\u306e\u4e2d\u5fc3\u90e8\u54c1\u3067\u3059\u3002\u3053\u306e\u578b\u306f<strong>\u300c4H\u75c7\u5019\u7fa4\u300d<\/strong>\u3068\u547c\u3070\u308c\u3001<strong>\u9ac4\u9798\u30fb\u6b6f\u30fb\u30db\u30eb\u30e2\u30f3\u306e3\u3064\u306b\u75c7\u72b6\u304c\u51fa\u308b<\/strong>\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e73\u5150\u671f\u304b\u3089\u306e\u904b\u52d5\u767a\u9054\u306e\u9045\u308c<\/strong>\uff08\u9996\u3059\u308f\u308a\u3001\u304a\u3059\u308f\u308a\u3001\u6b69\u884c\u306e\u9045\u308c\uff09<\/li>\n\n\n\n<li><strong>\u773c\u632f\uff08\u76ee\u304c\u7d30\u304b\u304f\u3086\u308c\u308b\uff09<\/strong>\uff1a\u65e9\u671f\u304b\u3089\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044<\/li>\n\n\n\n<li>\u7b4b\u7dca\u5f35\u306e\u7570\u5e38\uff08\u306f\u3058\u3081\u306f\u4f4e\u4e0b\u3001\u306e\u3061\u306b\u75d9\u6027\uff1d\u3064\u3063\u3071\u308a\uff09<\/li>\n\n\n\n<li>\u6b69\u884c\u306e\u3075\u3089\u3064\u304d\uff08\u5c0f\u8133\u5931\u8abf\uff09<\/li>\n\n\n\n<li>\u77e5\u7684\u306a\u767a\u9054\u306e\u9045\u308c\uff08\u7a0b\u5ea6\u306b\u306f\u5e45\u304c\u3042\u308a\u307e\u3059\uff09<\/li>\n\n\n\n<li><strong><strong>\u6b6f\u304c\u751f\u3048\u306a\u3044\u30fb\u751f\u3048\u308b\u9806\u5e8f\u306e\u7570\u5e38\uff08\u6b20\u6b6f\uff09<\/strong>\u3001<strong>\u601d\u6625\u671f\u304c\u6765\u306a\u3044\uff08\u4f4e\u30b4\u30ca\u30c9\u30c8\u30ed\u30d4\u30f3\u6027\u6027\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\uff09<\/strong>\u3001\u8fd1\u8996\u3001\u5c0f\u8133\u5931\u8abf<\/strong><\/li>\n\n\n\n<li>\u3051\u3044\u308c\u3093\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308b<\/li>\n\n\n\n<li><strong>\u982d\u90e8MRI\u3067\u3001\u9ac4\u9798\u5316\u304c\u5e74\u9f62\u76f8\u5fdc\u306b\u9032\u3093\u3067\u3044\u306a\u3044<\/strong><\/li>\n\n\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad<\/h2>\n\n\n\n<p><strong>\u982d\u90e8MRI\u304c\u8a3a\u65ad\u306e\u4e2d\u5fc3<\/strong>\u3067\u3059\u3002\u4f4e\u9ac4\u9798\u5316\u306f\u300cT2\u5f37\u8abf\u753b\u50cf\u3067\u767d\u8cea\u304c\u8efd\u5ea6\u9ad8\u4fe1\u53f7\u3001T1\u5f37\u8abf\u753b\u50cf\u3067\u7b49\u301c\u8efd\u5ea6\u9ad8\u4fe1\u53f7\u300d\u3068\u3044\u3046\u6240\u898b\u3067\u3001<strong>1\u6b73\u4ee5\u964d\u306b2\u56de\u64ae\u5f71\u3057\u3066\u9ac4\u9798\u5316\u304c\u9032\u3093\u3067\u3044\u306a\u3044\u3053\u3068<\/strong>\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u539f\u56e0\u907a\u4f1d\u5b50\u304c20\u4ee5\u4e0a\u3042\u308b\u305f\u3081\u3001<strong>POLR3A<\/strong> \u907a\u4f1d\u5b50\u3092\u542b\u3080\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306b\u3088\u3063\u3066\u4f4e\u9ac4\u9798\u5316\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc7\u578b\uff08\u6b20\u6b6f\u30fb\u4f4e\u30b4\u30ca\u30c9\u30c8\u30ed\u30d4\u30f3\u6027\u6027\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u3092\u4f34\u3046\u5834\u5408\u3068\u4f34\u308f\u306a\u3044\u5834\u5408\uff09\u3068\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6839\u672c\u7684\u306b\u6cbb\u3059\u65b9\u6cd5\u306f\u78ba\u7acb\u3057\u3066\u3044\u307e\u305b\u3093<\/strong><\/li>\n\n\n\n<li><strong>\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5<\/strong>\uff08\u95a2\u7bc0\u306e\u62d8\u7e2e\u3092\u9632\u304e\u3001\u904b\u52d5\u6a5f\u80fd\u3092\u4fdd\u3064\u305f\u3081\u306b\u91cd\u8981\u3067\u3059\uff09<\/li>\n\n\n\n<li>\u75d9\u7e2e\u306b\u5bfe\u3059\u308b\u6cbb\u7642\uff08\u5185\u670d\u3001\u30dc\u30c4\u30ea\u30cc\u30b9\u6bd2\u7d20\u3001\u9ac4\u8154\u5185\u30d0\u30af\u30ed\u30d5\u30a7\u30f3\uff09<\/li>\n\n\n\n<li>\u88c5\u5177\u3001\u6b69\u884c\u88dc\u52a9\u5177\u3001\u8eca\u6905\u5b50<\/li>\n\n\n\n<li>\u3051\u3044\u308c\u3093\u304c\u3042\u308b\u5834\u5408\u306f\u6297\u3066\u3093\u304b\u3093\u85ac<\/li>\n\n\n\n<li><strong>\u810a\u67f1\u5074\u5f2f\u306b\u5bfe\u3059\u308b\u5b9a\u671f\u7684\u306a\u8a55\u4fa1<\/strong><\/li>\n\n\n\n<li>\u6804\u990a\u306e\u7ba1\u7406\uff08\u56a5\u4e0b\u969c\u5bb3\u304c\u3042\u308b\u5834\u5408\u306f\u7d4c\u7ba1\u6804\u990a\uff09<\/li>\n\n\n\n<li>\u7642\u80b2\u30fb\u6559\u80b2\u9762\u3067\u306e\u652f\u63f4\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u652f\u63f4<\/li>\n\n\n<\/ul>\n\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\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>POLR3A<\/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\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\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>POLR3A<\/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\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\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\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\n<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n\n<p>\u4f4e\u9ac4\u9798\u5316\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc7\u578b\uff08\u6b20\u6b6f\u30fb\u4f4e\u30b4\u30ca\u30c9\u30c8\u30ed\u30d4\u30f3\u6027\u6027\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u3092\u4f34\u3046\u5834\u5408\u3068\u4f34\u308f\u306a\u3044\u5834\u5408\uff09\u306f <strong>POLR3A<\/strong> \u306e\u4e21\u30a2\u30ec\u30eb\u5909\u7570\u306b\u3088\u308b\u3002\u4f4e\u9ac4\u9798\u5316\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08hypomyelinating leukodystrophy, HLD\uff09\u306f\u3001<strong>\u300c\u9ac4\u9798\u306e\u5f62\u6210\u4e0d\u5168\uff08hypomyelination\uff09\u300d\u3068\u300c\u8131\u9ac4\uff08demyelination\uff09\u300d\u3092\u533a\u5225\u3059\u308b<\/strong>\u6982\u5ff5\u3067\u3001\u524d\u8005\u306fMRI\u3067T2\u9ad8\u4fe1\u53f7\u304c\u8efd\u5ea6\u306b\u3068\u3069\u307e\u308a\u3001T1\u304c\u7b49\u301c\u9ad8\u4fe1\u53f7\u3092\u793a\u3059\u70b9\u3067\u5f8c\u8005\u3068\u7570\u306a\u308b\u3002<\/p>\n\n\n\n<p><strong>POLR3A<\/strong>\uff0810q22.3\uff09\u306fRNA\u30dd\u30ea\u30e1\u30e9\u30fc\u30bcIII\u306e\u6700\u5927\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u3092\u30b3\u30fc\u30c9\u3059\u308b\u3002<strong>4H\u75c7\u5019\u7fa4\uff08Hypomyelination, Hypodontia, Hypogonadotropic hypogonadism\uff09<\/strong>\u3068\u3057\u3066\u77e5\u3089\u308c\u3001HLD\u306e\u306a\u304b\u3067\u6700\u3082\u983b\u5ea6\u304c\u9ad8\u3044\u4e00\u7fa4\u3092\u6210\u3059\u3002<strong>MRI\u3067\u306f\u3001\u4f4e\u9ac4\u9798\u5316\u306e\u306a\u304b\u3067\u6b6f\u72b6\u6838\u30fb\u8996\u653e\u7dda\u30fb\u9310\u4f53\u8def\u304c\u76f8\u5bfe\u7684\u306bT2\u4f4e\u4fe1\u53f7\u3092\u4fdd\u3064<\/strong>\u3068\u3044\u3046\u7279\u5fb4\u7684\u30d1\u30bf\u30fc\u30f3\u3092\u793a\u3059\u3002\u6b6f\u306e\u7570\u5e38\uff08\u4e73\u6b6f\u306e\u6b8b\u5b58\u3001\u6c38\u4e45\u6b6f\u306e\u6b20\u5982\u3001\u840c\u51fa\u9806\u5e8f\u306e\u7570\u5e38\uff09\u3068\u601d\u6625\u671f\u9045\u767a\u306f\u8a3a\u65ad\u306e\u5f37\u3044\u624b\u304c\u304b\u308a\u3067\u3001\u5185\u5206\u6ccc\u5b66\u7684\u8a55\u4fa1\u3068\u30db\u30eb\u30e2\u30f3\u88dc\u5145\u304c\u5fc5\u8981\u3068\u306a\u308b\u3002<\/p>\n\n\n\n<p>HLD\u306e\u9451\u5225\u3067\u306f\u3001<strong>MRI\u306e\u6240\u898b\u306b\u52a0\u3048\u3066\u3001\u9ac4\u5916\u75c7\u72b6\uff08\u6b6f\u3001\u6027\u817a\u3001\u767d\u5185\u969c\u3001\u672b\u68a2\u795e\u7d4c\u3001\u96e3\u8074\u306a\u3069\uff09\u304c\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u63a8\u5b9a\u306b\u6709\u7528<\/strong>\u3067\u3042\u308b\u3002\u305f\u3068\u3048\u3070POLR3\u95a2\u9023\u3067\u306f\u6b6f\u3068\u6027\u817a\u3001HLD5\uff08HYCC1\uff09\u3067\u306f\u5148\u5929\u6027\u767d\u5185\u969c\u3001HLD9\uff08RARS1\uff09\u3067\u306f\u5358\u72ec\u306e\u4f4e\u9ac4\u9798\u5316\u304c\u624b\u304c\u304b\u308a\u3068\u306a\u308b\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u5bfe\u75c7\u7684\u3067\u3042\u308a\u3001\u7406\u5b66\u7642\u6cd5\u306b\u3088\u308b\u62d8\u7e2e\u4e88\u9632\u3001\u75d9\u7e2e\u7ba1\u7406\u3001\u5074\u5f2f\u3068\u547c\u5438\u6a5f\u80fd\u306e\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\u304c\u9577\u671f\u306eADL\u3092\u5de6\u53f3\u3059\u308b\u3002\u8a3a\u65ad\u78ba\u5b9a\u306f\u3001\u5bb6\u65cf\u8a08\u753b\u306e\u305f\u3081\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3068\u3001\u9032\u884c\u6027\u767d\u8cea\u8133\u75c7\uff08\u6cbb\u7642\u53ef\u80fd\u306a\u3082\u306e\u3092\u542b\u3080\uff09\u3068\u306e\u9451\u5225\u306e\u4e21\u9762\u3067\u91cd\u8981\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u300c\u4f4e\u9ac4\u9798\u5316\u300d\u3068\u306f\u3069\u3046\u3044\u3046\u610f\u5473\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u795e\u7d4c\u3092\u5305\u3080\u88ab\u8986\uff08\u9ac4\u9798\uff09\u304c\u3001\u3044\u3063\u305f\u3093\u3067\u304d\u3066\u304b\u3089\u58ca\u308c\u308b\u306e\u3067\u306f\u306a\u304f\u3001<strong>\u306f\u3058\u3081\u304b\u3089\u5341\u5206\u306b\u4f5c\u3089\u308c\u306a\u3044<\/strong>\u72b6\u614b\u3067\u3059\u3002MRI\u3067\u5224\u65ad\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u9032\u884c\u3057\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u578b\u306b\u3088\u3063\u3066\u5e45\u304c\u3042\u308a\u307e\u3059\u3002\u591a\u304f\u306f\u3086\u3063\u304f\u308a\u3067\u3001\u9032\u884c\u3057\u306a\u3044\u304b\u3001\u3054\u304f\u3086\u3063\u304f\u308a\u9032\u3080\u7d4c\u904e\u3092\u3068\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u30ea\u30cf\u30d3\u30ea\u306f\u52b9\u679c\u304c\u3042\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. <strong>\u3068\u3066\u3082\u91cd\u8981\u3067\u3059\u3002<\/strong>\u95a2\u7bc0\u304c\u56fa\u304f\u306a\u308b\u306e\u3092\u9632\u304e\u3001\u3067\u304d\u308b\u52d5\u4f5c\u3092\u4fdd\u3064\u305f\u3081\u306b\u3001\u7d99\u7d9a\u3059\u308b\u3053\u3068\u304c\u52e7\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u306a\u305c\u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u306e\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. 20\u4ee5\u4e0a\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u3042\u308a\u3001\u578b\u306b\u3088\u3063\u3066\u4f34\u3046\u75c7\u72b6\uff08\u6b6f\u3001\u76ee\u3001\u30db\u30eb\u30e2\u30f3\u306a\u3069\uff09\u3084\u7d4c\u904e\u304c\u7570\u306a\u308b\u305f\u3081\u3067\u3059\u3002\u6cbb\u7642\u3067\u304d\u308b\u5225\u306e\u75c5\u6c17\u3068\u306e\u533a\u5225\u306b\u3082\u5f79\u7acb\u3061\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u6b6f\u3084\u30db\u30eb\u30e2\u30f3\u306b\u3082\u75c7\u72b6\u304c\u51fa\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u306f\u3044\u3002\u3053\u306e\u578b\u306f\u300c4H\u75c7\u5019\u7fa4\u300d\u3068\u547c\u3070\u308c\u3001\u9ac4\u9798\u30fb\u6b6f\u30fb\u6027\u30db\u30eb\u30e2\u30f3\u306e3\u3064\u306b\u75c7\u72b6\u304c\u51fa\u308b\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002\u6b6f\u79d1\u3068\u5185\u5206\u6ccc\u79d1\u3067\u306e\u8a55\u4fa1\u3082\u304a\u53d7\u3051\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Bernard G, Chouery E, Putorti ML, et al. Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. <em>Am J Hum Genet<\/em>. 2011;89(3):415-423.<\/li>\n\n\n\n<li>Schiffmann R, van der Knaap MS. Invited article: an MRI-based approach to the diagnosis of white matter disorders. <em>Neurology<\/em>. 2009;72(8):750-759.<\/li>\n\n\n\n<li>Pouwels PJ, Vanderver A, Bernard G, et al. Hypomyelinating leukodystrophies: translational research progress and prospects. <em>Ann Neurol<\/em>. 2014;76(1):5-19.<\/li>\n\n\n\n<li>Charzewska A, Wierzba J, I\u017cycka-\u015awieszewska E, et al. Hypomyelinating leukodystrophies &#8211; a molecular insight into the white matter pathology. <em>Clin Genet<\/em>. 2016;90(4):293-304.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136834","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\/136834","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\/136834\/revisions"}],"predecessor-version":[{"id":137202,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136834\/revisions\/137202"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136834"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}