{"id":122746,"date":"2026-01-14T17:59:04","date_gmt":"2026-01-14T08:59:04","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122746"},"modified":"2026-03-31T15:46:01","modified_gmt":"2026-03-31T06:46:01","slug":"hld6-h-abc-syndrome-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/hld6-h-abc-syndrome-guide\/","title":{"rendered":"\u4f4e\u9ac4\u9798\u5316\u3092\u4f34\u3046\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc6\u578b\uff08HLD6\uff0fH-ABC\u75c7\u5019\u7fa4\uff09"},"content":{"rendered":"\n<p>\u4f4e\u9ac4\u9798\u5316\u3092\u4f34\u3046\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc6\u578b\u3001\u3042\u308b\u3044\u306fH-ABC\u75c7\u5019\u7fa4\u3068\u3044\u3046\u3001\u304a\u305d\u3089\u304f\u3053\u308c\u307e\u3067\u306b\u805e\u3044\u305f\u3053\u3068\u3082\u306a\u3044\u3088\u3046\u306a\u8a3a\u65ad\u540d\u3092\u805e\u304d\u3001\u60c5\u5831\u3092\u6c42\u3081\u3066\u3053\u306e\u30da\u30fc\u30b8\u306b\u305f\u3069\u308a\u7740\u304b\u308c\u305f\u3054\u5bb6\u65cf\u306e\u65b9\u3078\u3002<\/p>\n\n\n\n<p>\u533b\u5e2b\u304b\u3089\u300c\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u308b\u8133\u306e\u75c5\u6c17\u3067\u3059\u300d\u3068\u8aac\u660e\u3092\u53d7\u3051\u3001\u3055\u3089\u306b\u300c\u8133\u306e\u767d\u8cea\u3068\u3044\u3046\u90e8\u5206\u304c\u3046\u307e\u304f\u80b2\u3063\u3066\u3044\u307e\u305b\u3093\u300d\u3084\u300c\u5927\u8133\u57fa\u5e95\u6838\u3068\u3044\u3046\u5834\u6240\u304c\u5c0f\u3055\u304f\u306a\u3063\u3066\u3044\u307e\u3059\u300d\u3068\u3044\u3063\u305f\u5c02\u9580\u7684\u306a\u8a71\u3092\u3055\u308c\u3066\u3001\u8a08\u308a\u77e5\u308c\u306a\u3044\u885d\u6483\u3068\u4e0d\u5b89\u306e\u4e2d\u306b\u3044\u3089\u3063\u3057\u3083\u308b\u3053\u3068\u3068\u601d\u3044\u307e\u3059\u3002\u7279\u306b\u3001\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3068\u3044\u3046\u8a00\u8449\u81ea\u4f53\u304c\u91cd\u304f\u97ff\u304d\u3001\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u3067\u691c\u7d22\u3057\u3066\u3082\u65e5\u672c\u8a9e\u306e\u8a73\u3057\u3044\u60c5\u5831\u304c\u9650\u3089\u308c\u3066\u3044\u308b\u305f\u3081\u3001\u3053\u308c\u304b\u3089\u304a\u5b50\u3055\u3093\u304c\u3069\u3046\u306a\u3063\u3066\u3057\u307e\u3046\u306e\u304b\u3001\u3069\u3046\u80b2\u3066\u3066\u3044\u3051\u3070\u3044\u3044\u306e\u304b\u3068\u3001\u9014\u65b9\u306b\u66ae\u308c\u3066\u3044\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u533b\u5b66\u7684\u306b\u306f\u300cHypomyelinating Leukodystrophy type 6\u300d\u3068\u8868\u8a18\u3055\u308c\u3001\u982d\u6587\u5b57\u3092\u3068\u3063\u3066HLD6\u3068\u547c\u3070\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u904e\u53bb\u306b\u306f\u305d\u306e\u7279\u5fb4\u7684\u306aMRI\u753b\u50cf\u6240\u898b\u304b\u3089\u300c\u5927\u8133\u57fa\u5e95\u6838\u3068\u5c0f\u8133\u306e\u840e\u7e2e\u3092\u4f34\u3046\u4f4e\u9ac4\u9798\u5316\u75c7\u300d\u3001\u7565\u3057\u3066H-ABC\u75c7\u5019\u7fa4\u3068\u547c\u3070\u308c\u3066\u3044\u305f\u3053\u3068\u3082\u3042\u308a\u3001\u73fe\u5728\u3067\u3082\u3053\u3061\u3089\u306e\u540d\u524d\u3067\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306fTUBB4A\u3068\u3044\u3046\u3082\u306e\u3067\u3001\u3053\u306e\u907a\u4f1d\u5b50\u306b\u5909\u5316\u304c\u8d77\u304d\u308b\u3053\u3068\u3067\u3001\u8133\u306e\u795e\u7d4c\u7d30\u80de\u3092\u5305\u3080\u30ab\u30d0\u30fc\u3067\u3042\u308b\u9ac4\u9798\u304c\u3046\u307e\u304f\u4f5c\u3089\u308c\u306a\u304f\u306a\u3063\u305f\u308a\u3001\u8133\u306e\u7279\u5b9a\u306e\u90e8\u4f4d\u304c\u840e\u7e2e\u3057\u3066\u3057\u307e\u3063\u305f\u308a\u3059\u308b\u5148\u5929\u6027\u306e\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u975e\u5e38\u306b\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u304c\u30012000\u5e74\u4ee3\u4ee5\u964d\u306bMRI\u306b\u3088\u308b\u8a3a\u65ad\u6280\u8853\u304c\u666e\u53ca\u3057\u3001\u3055\u3089\u306b\u907a\u4f1d\u5b50\u89e3\u6790\u304c\u9032\u3093\u3060\u3053\u3068\u3067\u3001\u4e16\u754c\u4e2d\u3067\u8a3a\u65ad\u3055\u308c\u308b\u60a3\u8005\u3055\u3093\u304c\u5897\u3048\u3066\u304d\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u7814\u7a76\u6bb5\u968e\u3067\u3059\u304c\u3001\u3053\u306e\u75c5\u6c17\u306e\u7279\u5fb4\u3092\u6b63\u3057\u304f\u7406\u89e3\u3057\u3001\u65e9\u671f\u304b\u3089\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3084\u9069\u5207\u306a\u30b1\u30a2\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u3093\u306e\u82e6\u75db\u3092\u548c\u3089\u3052\u3001\u305d\u306e\u5b50\u3089\u3057\u3044\u6210\u9577\u3092\u652f\u3048\u3001\u7b11\u9854\u6ea2\u308c\u308b\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u306f\u5341\u5206\u306b\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305a\u6700\u521d\u306b\u304a\u4f1d\u3048\u3057\u305f\u3044\u306e\u306f\u3001\u8a3a\u65ad\u540d\u306f\u3042\u304f\u307e\u3067\u533b\u5b66\u7684\u306a\u5206\u985e\u3067\u3042\u308a\u3001\u304a\u5b50\u3055\u3093\u306e\u672a\u6765\u3084\u53ef\u80fd\u6027\u3092\u3059\u3079\u3066\u6c7a\u5b9a\u3065\u3051\u308b\u3082\u306e\u3067\u306f\u306a\u3044\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u304a\u5b50\u3055\u3093\u306b\u306f\u3001\u305d\u306e\u5b50\u3060\u3051\u306e\u7d20\u6674\u3089\u3057\u3044\u500b\u6027\u3068\u3001\u751f\u304d\u308b\u529b\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3042\u307e\u308a\u6050\u308c\u3059\u304e\u305a\u3001\u4e00\u3064\u3072\u3068\u3064\u77e5\u8b58\u3092\u6574\u7406\u3057\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div 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\u904b\u52d5\u767a\u9054\u306e\u9045\u308c<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/hld6-h-abc-syndrome-guide\/#2_%E3%82%B8%E3%82%B9%E3%83%88%E3%83%8B%E3%82%A2%EF%BC%88%E7%AD%8B%E7%B7%8A%E5%BC%B5%E7%95%B0%E5%B8%B8%EF%BC%89\" >2. \u30b8\u30b9\u30c8\u30cb\u30a2\uff08\u7b4b\u7dca\u5f35\u7570\u5e38\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/hld6-h-abc-syndrome-guide\/#3_%E5%B0%8F%E8%84%B3%E5%A4%B1%E8%AA%BF\" >3. \u5c0f\u8133\u5931\u8abf<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/hld6-h-abc-syndrome-guide\/#4_%E7%9C%BC%E7%90%83%E9%81%8B%E5%8B%95%E9%9A%9C%E5%AE%B3%E3%81%A8%E8%A6%96%E8%A6%9A\" >4. \u773c\u7403\u904b\u52d5\u969c\u5bb3\u3068\u8996\u899a<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/hld6-h-abc-syndrome-guide\/#5_%E7%99%BA%E5%A3%B0%E3%81%A8%E5%9A%A5%E4%B8%8B%E3%81%AE%E7%89%B9%E5%BE%B4\" >5. \u767a\u58f0\u3068\u56a5\u4e0b\u306e\u7279\u5fb4<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/hld6-h-abc-syndrome-guide\/#6_%E7%9F%A5%E7%9A%84%E7%99%BA%E9%81%94\" >6. \u77e5\u7684\u767a\u9054<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/hld6-h-abc-syndrome-guide\/#7_%E7%97%87%E7%8A%B6%E3%81%AE%E9%80%B2%E8%A1%8C%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6\" >7. \u75c7\u72b6\u306e\u9032\u884c\u306b\u3064\u3044\u3066<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/hld6-h-abc-syndrome-guide\/#%E5%8E%9F%E5%9B%A0\" >\u539f\u56e0<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/hld6-h-abc-syndrome-guide\/#TUBB4A%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%BD%B9%E5%89%B2\" >TUBB4A\u907a\u4f1d\u5b50\u306e\u5f79\u5272<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/hld6-h-abc-syndrome-guide\/#%E5%BE%AE%E5%B0%8F%E7%AE%A1%E3%81%A8%E7%B4%B0%E8%83%9E%E3%81%AE%E6%A9%9F%E8%83%BD\" >\u5fae\u5c0f\u7ba1\u3068\u7d30\u80de\u306e\u6a5f\u80fd<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/hld6-h-abc-syndrome-guide\/#%E4%BD%95%E3%81%8C%E8%B5%B7%E3%81%8D%E3%81%A6%E3%81%84%E3%82%8B%E3%81%AE%E3%81%8B\" >\u4f55\u304c\u8d77\u304d\u3066\u3044\u308b\u306e\u304b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/hld6-h-abc-syndrome-guide\/#%E9%81%BA%E4%BC%9D%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6\" >\u907a\u4f1d\u306b\u3064\u3044\u3066<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/hld6-h-abc-syndrome-guide\/#%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\" >\u8a3a\u65ad\u3068\u691c\u67fb<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/hld6-h-abc-syndrome-guide\/#1_%E8%84%B3MRI%E6%A4%9C%E6%9F%BB\" >1. \u8133MRI\u691c\u67fb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/hld6-h-abc-syndrome-guide\/#2_%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\" >2. \u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/hld6-h-abc-syndrome-guide\/#%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86\" >\u6cbb\u7642\u3068\u7ba1\u7406<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/hld6-h-abc-syndrome-guide\/#1_%E3%83%AA%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%EF%BC%88%E7%99%82%E8%82%B2%EF%BC%89\" >1. \u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff08\u7642\u80b2\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/hld6-h-abc-syndrome-guide\/#2_%E8%96%AC%E7%89%A9%E7%99%82%E6%B3%95\" >2. \u85ac\u7269\u7642\u6cd5<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/hld6-h-abc-syndrome-guide\/#3_%E6%95%B4%E5%BD%A2%E5%A4%96%E7%A7%91%E7%9A%84%E6%B2%BB%E7%99%82\" >3. \u6574\u5f62\u5916\u79d1\u7684\u6cbb\u7642<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/hld6-h-abc-syndrome-guide\/#4_%E5%91%BC%E5%90%B8%E3%81%A8%E6%A0%84%E9%A4%8A%E3%81%AE%E7%AE%A1%E7%90%86\" >4. \u547c\u5438\u3068\u6804\u990a\u306e\u7ba1\u7406<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/hld6-h-abc-syndrome-guide\/#5_%E6%9C%80%E6%96%B0%E3%81%AE%E7%A0%94%E7%A9%B6%E5%8B%95%E5%90%91\" >5. \u6700\u65b0\u306e\u7814\u7a76\u52d5\u5411<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/hld6-h-abc-syndrome-guide\/#%E7%94%9F%E6%B4%BB%E4%B8%8A%E3%81%AE%E5%B7%A5%E5%A4%AB%E3%81%A8%E5%AE%B6%E6%97%8F%E3%81%AE%E3%82%B1%E3%82%A2\" >\u751f\u6d3b\u4e0a\u306e\u5de5\u592b\u3068\u5bb6\u65cf\u306e\u30b1\u30a2<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-28\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/hld6-h-abc-syndrome-guide\/#%E3%81%BE%E3%81%A8%E3%82%81\" >\u307e\u3068\u3081<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A6%82%E8%A6%81%EF%BC%9A%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%8B\"><\/span><strong>\u6982\u8981\uff1a\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u307e\u305a\u3001\u3053\u306e\u75c5\u6c17\u304c\u4f53\u306e\u4e2d\u3067\u4f55\u3092\u8d77\u3053\u3057\u3066\u3044\u308b\u306e\u304b\u3001\u5168\u4f53\u50cf\u3092\u7406\u89e3\u3059\u308b\u305f\u3081\u306b\u3001\u3044\u304f\u3064\u304b\u306e\u30ad\u30fc\u30ef\u30fc\u30c9\u3092\u7d10\u89e3\u3044\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%99%BD%E8%B3%AA%E3%82%B8%E3%82%B9%E3%83%88%E3%83%AD%E3%83%95%E3%82%A3%E3%83%BC%E3%81%A8%E9%AB%84%E9%9E%98\"><\/span><strong>\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3068\u9ac4\u9798<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u79c1\u305f\u3061\u306e\u8133\u306f\u3001\u795e\u7d4c\u7d30\u80de\u304c\u96c6\u307e\u3063\u3066\u3044\u308b\u7070\u767d\u8cea\u3068\u3001\u795e\u7d4c\u7d30\u80de\u304b\u3089\u4f38\u3073\u308b\u96fb\u7dda\u306e\u3088\u3046\u306a\u795e\u7d4c\u7dda\u7dad\u304c\u96c6\u307e\u3063\u3066\u3044\u308b\u767d\u8cea\u3068\u3044\u3046\u90e8\u5206\u306b\u5206\u304b\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u795e\u7d4c\u7dda\u7dad\u306f\u3001\u9ac4\u9798\u3001\u3042\u308b\u3044\u306f\u30df\u30a8\u30ea\u30f3\u3068\u547c\u3070\u308c\u308b\u8102\u8cea\u3068\u30bf\u30f3\u30d1\u30af\u8cea\u3067\u3067\u304d\u305f\u819c\u3067\u4f55\u5c64\u306b\u3082\u5305\u307e\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306f\u5bb6\u5ead\u306b\u3042\u308b\u96fb\u6c17\u30b3\u30fc\u30c9\u3092\u30a4\u30e1\u30fc\u30b8\u3057\u3066\u304f\u3060\u3055\u3044\u3002\u9285\u7dda\u304c\u3080\u304d\u51fa\u3057\u3060\u3068\u96fb\u6c17\u306f\u3046\u307e\u304f\u6d41\u308c\u307e\u305b\u3093\u304c\u3001\u30b4\u30e0\u306e\u30ab\u30d0\u30fc\u3067\u8986\u308f\u308c\u3066\u3044\u308b\u3053\u3068\u3067\u3001\u96fb\u6c17\u4fe1\u53f7\u304c\u6f0f\u308c\u305a\u306b\u7d20\u65e9\u304f\u4f1d\u308f\u308a\u307e\u3059\u3002\u3053\u306e\u30b4\u30e0\u30ab\u30d0\u30fc\u306e\u5f79\u5272\u3092\u3057\u3066\u3044\u308b\u306e\u304c\u9ac4\u9798\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3068\u306f\u3001\u3053\u306e\u9ac4\u9798\u306e\u5f62\u6210\u3084\u7dad\u6301\u306b\u554f\u984c\u304c\u751f\u3058\u308b\u75c5\u6c17\u306e\u7dcf\u79f0\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u4e2d\u3067\u3082\u3001HLD6\u306f\u300c\u4f4e\u9ac4\u9798\u5316\u300d\u3068\u3044\u3046\u30bf\u30a4\u30d7\u306b\u5206\u985e\u3055\u308c\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u4e00\u5ea6\u4f5c\u3089\u308c\u305f\u9ac4\u9798\u304c\u58ca\u308c\u3066\u3057\u307e\u3046\u306e\u3067\u306f\u306a\u304f\u3001\u6700\u521d\u304b\u3089\u9ac4\u9798\u304c\u5341\u5206\u306b\u4f5c\u3089\u308c\u306a\u3044\u3001\u3042\u308b\u3044\u306f\u4f5c\u3089\u308c\u308b\u91cf\u304c\u6975\u7aef\u306b\u5c11\u306a\u3044\u72b6\u614b\u3092\u6307\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30ab\u30d0\u30fc\u304c\u8584\u3044\u305f\u3081\u3001\u8133\u304b\u3089\u306e\u6307\u4ee4\u304c\u4f53\u3078\u3046\u307e\u304f\u4f1d\u308f\u3089\u306a\u304b\u3063\u305f\u308a\u3001\u611f\u899a\u306e\u60c5\u5831\u304c\u8133\u3078\u5c4a\u304d\u306b\u304f\u304b\u3063\u305f\u308a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"H-ABC%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\"><\/span><strong>H-ABC\u75c7\u5019\u7fa4\u3068\u306e\u95a2\u4fc2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>HLD6\u3068\u3044\u3046\u8a3a\u65ad\u540d\u306f\u3001\u907a\u4f1d\u5b50\u7684\u306a\u5206\u985e\u306b\u57fa\u3065\u304f\u65b0\u3057\u3044\u540d\u524d\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u65b9\u3001H-ABC\u75c7\u5019\u7fa4\u3068\u3044\u3046\u540d\u524d\u306f\u3001\u907a\u4f1d\u5b50\u306e\u539f\u56e0\u304c\u308f\u304b\u308b\u524d\u304b\u3089\u3001\u7279\u5fb4\u7684\u306aMRI\u753b\u50cf\u6240\u898b\u3092\u6301\u3064\u60a3\u8005\u3055\u3093\u305f\u3061\u306e\u30b0\u30eb\u30fc\u30d7\u306b\u3064\u3051\u3089\u308c\u3066\u3044\u305f\u540d\u524d\u3067\u3059\u3002<\/p>\n\n\n\n<p>H-ABC\u3068\u306f\u3001\u300cHypomyelination with Atrophy of the Basal Ganglia and Cerebellum\u300d\u306e\u982d\u6587\u5b57\u3092\u3068\u3063\u305f\u3082\u306e\u3067\u3001\u65e5\u672c\u8a9e\u306b\u8a33\u3059\u3068\u300c\u5927\u8133\u57fa\u5e95\u6838\u3068\u5c0f\u8133\u306e\u840e\u7e2e\u3092\u4f34\u3046\u4f4e\u9ac4\u9798\u5316\u300d\u3068\u3044\u3046\u610f\u5473\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>2012\u5e74\u304b\u30892013\u5e74\u306b\u304b\u3051\u3066\u3001H-ABC\u75c7\u5019\u7fa4\u306e\u60a3\u8005\u3055\u3093\u306e\u591a\u304f\u306bTUBB4A\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u898b\u3064\u304b\u3063\u305f\u3053\u3068\u3067\u3001\u73fe\u5728\u3067\u306fHLD6\u3068H-ABC\u75c7\u5019\u7fa4\u306f\u307b\u307c\u540c\u3058\u75c5\u6c17\u3092\u6307\u3059\u8a00\u8449\u3068\u3057\u3066\u4f7f\u308f\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%99%BA%E7%94%9F%E9%A0%BB%E5%BA%A6\"><\/span><strong>\u767a\u751f\u983b\u5ea6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u975e\u5e38\u306b\u7a00\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u6b63\u78ba\u306a\u60a3\u8005\u6570\u306f\u308f\u304b\u3063\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u5168\u4f53\u306e\u4e2d\u3067\u3082\u6bd4\u8f03\u7684\u7a00\u306a\u30bf\u30a4\u30d7\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001MRI\u691c\u67fb\u3067\u7279\u5fb4\u7684\u306a\u6240\u898b\u304c\u898b\u3089\u308c\u308b\u305f\u3081\u3001\u8a3a\u65ad\u6280\u8853\u306e\u5411\u4e0a\u3068\u3068\u3082\u306b\u5831\u544a\u6570\u306f\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/#anchor_sex\">\u6027\u5225<\/a>\u306b\u3088\u308b\u5dee\u306f\u306a\u304f\u3001\u7537\u306e\u5b50\u3082\u5973\u306e\u5b50\u3082\u540c\u3058\u3088\u3046\u306b\u767a\u75c7\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6\"><\/span><strong>\u4e3b\u306a\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>HLD6\u306e\u75c7\u72b6\u306f\u3001\u8133\u306e\u3069\u306e\u90e8\u5206\u304c\u5f71\u97ff\u3092\u53d7\u3051\u3066\u3044\u308b\u304b\u306b\u3088\u3063\u3066\u69d8\u3005\u3067\u3059\u304c\u3001\u4e3b\u306b\u904b\u52d5\u6a5f\u80fd\u306e\u767a\u9054\u306b\u5f71\u97ff\u304c\u51fa\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u75c7\u72b6\u306e\u7a0b\u5ea6\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u4e73\u5150\u671f\u304b\u3089\u91cd\u3044\u75c7\u72b6\u304c\u51fa\u308b\u304a\u5b50\u3055\u3093\u3082\u3044\u308c\u3070\u3001\u3086\u3063\u304f\u308a\u306a\u304c\u3089\u3082\u6b69\u3051\u308b\u3088\u3046\u306b\u306a\u308b\u304a\u5b50\u3055\u3093\u3082\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E9%81%8B%E5%8B%95%E7%99%BA%E9%81%94%E3%81%AE%E9%81%85%E3%82%8C\"><\/span><strong>1. \u904b\u52d5\u767a\u9054\u306e\u9045\u308c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3054\u5bb6\u65cf\u304c\u6700\u521d\u306b\u6c17\u3065\u304f\u3053\u3068\u304c\u591a\u3044\u75c7\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u9996\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u30cf\u30a4\u30cf\u30a4\u3001\u3064\u304b\u307e\u308a\u7acb\u3061\u3068\u3044\u3063\u305f\u904b\u52d5\u306e\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u304c\u3001\u4e00\u822c\u7684\u306a\u6642\u671f\u3088\u308a\u3082\u9045\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8efd\u75c7\u306e\u4f8b\u3067\u306f\u3001\u5c11\u3057\u9045\u308c\u3066\u6b69\u304d\u59cb\u3081\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u4e0d\u5b89\u5b9a\u3067\u8ee2\u3073\u3084\u3059\u304b\u3063\u305f\u308a\u3001\u8d70\u308b\u306e\u304c\u82e6\u624b\u3060\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u91cd\u75c7\u306e\u4f8b\u3067\u306f\u3001\u9996\u304c\u3059\u308f\u308b\u306e\u306b\u6642\u9593\u304c\u304b\u304b\u308a\u3001\u5ea7\u4f4d\u3084\u7acb\u4f4d\u306e\u7372\u5f97\u304c\u96e3\u3057\u3044\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E3%82%B8%E3%82%B9%E3%83%88%E3%83%8B%E3%82%A2%EF%BC%88%E7%AD%8B%E7%B7%8A%E5%BC%B5%E7%95%B0%E5%B8%B8%EF%BC%89\"><\/span><strong>2. \u30b8\u30b9\u30c8\u30cb\u30a2\uff08\u7b4b\u7dca\u5f35\u7570\u5e38\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>HLD6\u306e\u975e\u5e38\u306b\u7279\u5fb4\u7684\u304b\u3064\u91cd\u8981\u306a\u75c7\u72b6\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u30b8\u30b9\u30c8\u30cb\u30a2\u3068\u306f\u3001\u81ea\u5206\u306e\u610f\u601d\u3068\u306f\u95a2\u4fc2\u306a\u304f\u7b4b\u8089\u306b\u529b\u304c\u5165\u3063\u3066\u3057\u307e\u3044\u3001\u4f53\u304c\u306d\u3058\u308c\u305f\u308a\u3001\u56fa\u307e\u3063\u305f\u308a\u3057\u3066\u3057\u307e\u3046\u75c7\u72b6\u306e\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306f\u3001\u8133\u306e\u6df1\u90e8\u306b\u3042\u308b\u5927\u8133\u57fa\u5e95\u6838\u3068\u3044\u3046\u90e8\u5206\u304c\u3001\u7b4b\u8089\u306e\u7dca\u5f35\u3092\u3046\u307e\u304f\u8abf\u7bc0\u3067\u304d\u306a\u304f\u306a\u308b\u305f\u3081\u306b\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4f8b\u3048\u3070\u3001\u8db3\u304c\u7a81\u3063\u5f35\u3063\u3066\u3057\u307e\u3063\u3066\u5730\u9762\u306b\u3046\u307e\u304f\u3064\u3051\u306a\u3044\u3001\u8155\u304c\u52dd\u624b\u306b\u5f8c\u308d\u306b\u306d\u3058\u308c\u308b\u3001\u9996\u304c\u5f8c\u308d\u306b\u53cd\u308a\u8fd4\u308b\u3068\u3044\u3063\u305f\u52d5\u304d\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7dca\u5f35\u304c\u9ad8\u307e\u308b\u3068\u75db\u307f\u3092\u611f\u3058\u305f\u308a\u3001\u95a2\u7bc0\u304c\u56fa\u307e\u3063\u3066\u52d5\u304b\u3057\u306b\u304f\u304f\u306a\u3063\u305f\u308a\u3059\u308b\u62d8\u7e2e\u306e\u539f\u56e0\u306b\u3082\u306a\u308b\u305f\u3081\u3001\u30ea\u30cf\u30d3\u30ea\u3084\u85ac\u3067\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u304c\u91cd\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E5%B0%8F%E8%84%B3%E5%A4%B1%E8%AA%BF\"><\/span><strong>3. \u5c0f\u8133\u5931\u8abf<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5c0f\u8133\u306f\u3001\u4f53\u306e\u30d0\u30e9\u30f3\u30b9\u3092\u3068\u3063\u305f\u308a\u3001\u52d5\u304d\u3092\u30b9\u30e0\u30fc\u30ba\u306b\u3057\u305f\u308a\u3059\u308b\u5f79\u5272\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>HLD6\u3067\u306f\u5c0f\u8133\u304c\u5c0f\u3055\u304f\u306a\u308b\uff08\u840e\u7e2e\u3059\u308b\uff09\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001\u5c0f\u8133\u5931\u8abf\u3068\u547c\u3070\u308c\u308b\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5177\u4f53\u7684\u306b\u306f\u3001\u5ea7\u3063\u3066\u3044\u3066\u3082\u4f53\u304c\u30b0\u30e9\u30b0\u30e9\u3059\u308b\u3001\u7269\u3092\u53d6\u308d\u3046\u3068\u3057\u305f\u6642\u306b\u624b\u304c\u9707\u3048\u308b\u3001\u6b69\u304f\u6642\u306b\u3075\u3089\u3064\u304f\u3068\u3044\u3063\u305f\u75c7\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E7%9C%BC%E7%90%83%E9%81%8B%E5%8B%95%E9%9A%9C%E5%AE%B3%E3%81%A8%E8%A6%96%E8%A6%9A\"><\/span><strong>4. \u773c\u7403\u904b\u52d5\u969c\u5bb3\u3068\u8996\u899a<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u76ee\u306e\u52d5\u304d\u306b\u3082\u7279\u5fb4\u304c\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u773c\u632f\u3068\u3044\u3063\u3066\u3001\u9ed2\u76ee\u304c\u5c0f\u523b\u307f\u306b\u63fa\u308c\u308b\u75c7\u72b6\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u52d5\u304f\u3082\u306e\u3092\u76ee\u3067\u8ffd\u3046\u8ffd\u8996\u304c\u82e6\u624b\u3060\u3063\u305f\u308a\u3001\u659c\u8996\u304c\u898b\u3089\u308c\u305f\u308a\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8996\u529b\u81ea\u4f53\u306b\u306f\u5927\u304d\u306a\u554f\u984c\u304c\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u8133\u3067\u306e\u60c5\u5831\u51e6\u7406\u306e\u554f\u984c\u306b\u3088\u308a\u3001\u898b\u3066\u3044\u308b\u3082\u306e\u3092\u8a8d\u8b58\u3059\u308b\u306e\u306b\u6642\u9593\u304c\u304b\u304b\u308b\u76ae\u8cea\u6027\u8996\u899a\u969c\u5bb3\u306e\u3088\u3046\u306a\u72b6\u614b\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E7%99%BA%E5%A3%B0%E3%81%A8%E5%9A%A5%E4%B8%8B%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span><strong>5. \u767a\u58f0\u3068\u56a5\u4e0b\u306e\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8a00\u8449\u306e\u767a\u9054\u306b\u3082\u9045\u308c\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u3061\u3089\u306e\u8a00\u3063\u3066\u3044\u308b\u3053\u3068\u306f\u3088\u304f\u7406\u89e3\u3057\u3066\u3044\u3066\u3082\u3001\u305d\u308c\u3092\u8a00\u8449\u306b\u3057\u3066\u8a71\u3059\u3053\u3068\u304c\u96e3\u3057\u3044\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u3068\u3057\u3066\u3001\u3055\u3055\u3084\u304d\u58f0\u306e\u3088\u3046\u306a\u767a\u58f0\uff08Whispering dysphonia\uff09\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u58f0\u5e2f\u306e\u7b4b\u8089\u306e\u8abf\u7bc0\u304c\u3046\u307e\u304f\u3044\u304b\u306a\u3044\u305f\u3081\u306b\u3001\u5927\u304d\u306a\u58f0\u304c\u51fa\u3057\u306b\u304f\u304f\u3001\u606f\u6f0f\u308c\u3059\u308b\u3088\u3046\u306a\u8a71\u3057\u65b9\u306b\u306a\u308b\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u98f2\u307f\u8fbc\u3080\u529b\uff08\u56a5\u4e0b\u6a5f\u80fd\uff09\u3082\u5f31\u304f\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u98df\u4e8b\u4e2d\u306b\u3080\u305b\u305f\u308a\u3001\u56fa\u5f62\u7269\u3092\u565b\u3080\u306e\u304c\u82e6\u624b\u3060\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E7%9F%A5%E7%9A%84%E7%99%BA%E9%81%94\"><\/span><strong>6. \u77e5\u7684\u767a\u9054<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u904b\u52d5\u6a5f\u80fd\u306e\u969c\u5bb3\u306b\u6bd4\u3079\u308b\u3068\u3001\u77e5\u7684\u306a\u7406\u89e3\u529b\u306f\u6bd4\u8f03\u7684\u4fdd\u305f\u308c\u308b\u50be\u5411\u304c\u3042\u308b\u3068\u8a00\u308f\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a00\u8449\u306f\u51fa\u306a\u304f\u3066\u3082\u3001\u8868\u60c5\u3084\u8996\u7dda\u3001\u8eab\u632f\u308a\u306a\u3069\u3067\u610f\u601d\u758e\u901a\u304c\u3067\u304d\u308b\u304a\u5b50\u3055\u3093\u306f\u305f\u304f\u3055\u3093\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u75c5\u72b6\u306e\u9032\u884c\u3084\u91cd\u75c7\u5ea6\u306b\u3088\u3063\u3066\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u4f34\u3046\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%E7%97%87%E7%8A%B6%E3%81%AE%E9%80%B2%E8%A1%8C%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6\"><\/span><strong>7. \u75c7\u72b6\u306e\u9032\u884c\u306b\u3064\u3044\u3066<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>HLD6\u306f\u9032\u884c\u6027\u306e\u75be\u60a3\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u305d\u306e\u30b9\u30d4\u30fc\u30c9\u306f\u4eba\u306b\u3088\u3063\u3066\u5168\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6025\u901f\u306b\u75c7\u72b6\u304c\u9032\u3080\u5834\u5408\u3082\u3042\u308c\u3070\u3001\u6570\u5e74\u304b\u3089\u6570\u5341\u5e74\u306b\u308f\u305f\u3063\u3066\u3086\u3063\u304f\u308a\u3068\u9032\u884c\u3059\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3001\u98a8\u90aa\u3092\u3072\u3044\u3066\u71b1\u3092\u51fa\u3057\u305f\u6642\u306a\u3069\u306b\u4e00\u6642\u7684\u306b\u75c7\u72b6\u304c\u60aa\u5316\u3059\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001\u4f53\u8abf\u7ba1\u7406\u306b\u306f\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0\"><\/span><strong>\u539f\u56e0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u306a\u305c\u3001\u9ac4\u9798\u304c\u4f5c\u3089\u308c\u306a\u304b\u3063\u305f\u308a\u3001\u8133\u306e\u4e00\u90e8\u304c\u5c0f\u3055\u304f\u306a\u3063\u305f\u308a\u3059\u308b\u306e\u3067\u3057\u3087\u3046\u304b\u3002\u305d\u306e\u539f\u56e0\u306f\u3001\u7d30\u80de\u306e\u9aa8\u7d44\u307f\u3092\u4f5c\u308b\u91cd\u8981\u306a\u90e8\u54c1\u306e\u4e0d\u5177\u5408\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"TUBB4A%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%BD%B9%E5%89%B2\"><\/span><strong>TUBB4A\u907a\u4f1d\u5b50\u306e\u5f79\u5272<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>HLD6\u306e\u539f\u56e0\u306f\u3001\u7b2c19\u756a\u67d3\u8272\u4f53\u306b\u3042\u308bTUBB4A\uff08\u30c1\u30e5\u30fc\u30d6\u30fb\u30d5\u30a9\u30fc\u30fb\u30a8\u30fc\uff09\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u30c1\u30e5\u30fc\u30d6\u30ea\u30f3\u30fb\u30d9\u30fc\u30bf\u30fb4A\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308b\u8a2d\u8a08\u56f3\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BE%AE%E5%B0%8F%E7%AE%A1%E3%81%A8%E7%B4%B0%E8%83%9E%E3%81%AE%E6%A9%9F%E8%83%BD\"><\/span><strong>\u5fae\u5c0f\u7ba1\u3068\u7d30\u80de\u306e\u6a5f\u80fd<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30c1\u30e5\u30fc\u30d6\u30ea\u30f3\u306f\u3001\u7d30\u80de\u306e\u4e2d\u3067\u5fae\u5c0f\u7ba1\u3068\u3044\u3046\u975e\u5e38\u306b\u91cd\u8981\u306a\u69cb\u9020\u7269\u3092\u4f5c\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5fae\u5c0f\u7ba1\u306f\u3001\u7d30\u80de\u306b\u3068\u3063\u3066\u306e\u9aa8\u7d44\u307f\u3067\u3042\u308a\u3001\u307e\u305f\u7d30\u80de\u306e\u4e2d\u3067\u7269\u8cea\u3092\u904b\u3076\u305f\u3081\u306e\u30ec\u30fc\u30eb\u3067\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u8133\u306e\u795e\u7d4c\u7d30\u80de\u306b\u304a\u3044\u3066\u306f\u3001\u3053\u306e\u5fae\u5c0f\u7ba1\u304c\u3001\u795e\u7d4c\u7d30\u80de\u306e\u5f62\u3092\u7dad\u6301\u3057\u305f\u308a\u3001\u9ac4\u9798\u3092\u4f5c\u308b\u7d30\u80de\uff08\u30aa\u30ea\u30b4\u30c7\u30f3\u30c9\u30ed\u30b5\u30a4\u30c8\uff09\u304c\u6b63\u5e38\u306b\u50cd\u3044\u305f\u308a\u3059\u308b\u305f\u3081\u306b\u4e0d\u53ef\u6b20\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BD%95%E3%81%8C%E8%B5%B7%E3%81%8D%E3%81%A6%E3%81%84%E3%82%8B%E3%81%AE%E3%81%8B\"><\/span><strong>\u4f55\u304c\u8d77\u304d\u3066\u3044\u308b\u306e\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>TUBB4A\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u8d77\u304d\u308b\u3068\u3001\u4f5c\u3089\u308c\u308b\u30c1\u30e5\u30fc\u30d6\u30ea\u30f3\u306e\u5f62\u304c\u5909\u308f\u308a\u3001\u6b63\u5e38\u306a\u5fae\u5c0f\u7ba1\u304c\u4f5c\u308c\u306a\u304f\u306a\u3063\u305f\u308a\u3001\u5fae\u5c0f\u7ba1\u304c\u4e0d\u5b89\u5b9a\u306b\u306a\u3063\u305f\u308a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3059\u308b\u3068\u3001\u9ac4\u9798\u3092\u4f5c\u308b\u7d30\u80de\u304c\u3046\u307e\u304f\u80b2\u305f\u305a\u3001\u9ac4\u9798\u306e\u5f62\u6210\u4e0d\u5168\uff08\u4f4e\u9ac4\u9798\u5316\uff09\u304c\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u5927\u8133\u57fa\u5e95\u6838\u3084\u5c0f\u8133\u306e\u795e\u7d4c\u7d30\u80de\u306f\u3001\u3053\u306e\u5fae\u5c0f\u7ba1\u306e\u7570\u5e38\u306b\u5bfe\u3057\u3066\u7279\u306b\u5f31\u304f\u3001\u7d30\u80de\u304c\u6b7b\u3093\u3067\u3057\u307e\u3063\u305f\u308a\u3001\u840e\u7e2e\u3057\u3066\u3057\u307e\u3063\u305f\u308a\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u304c\u3001HLD6\u7279\u6709\u306e\u300c\u4f4e\u9ac4\u9798\u5316\u300d\u30d7\u30e9\u30b9\u300c\u5927\u8133\u57fa\u5e95\u6838\u30fb\u5c0f\u8133\u306e\u840e\u7e2e\u300d\u3068\u3044\u3046\u75c7\u72b6\u306b\u3064\u306a\u304c\u308b\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6\"><\/span><strong>\u907a\u4f1d\u306b\u3064\u3044\u3066<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u3001\u4ee5\u524d\u306f\u512a\u6027\u907a\u4f1d\u3068\u547c\u3070\u308c\u3066\u3044\u305f\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4eba\u9593\u306f\u907a\u4f1d\u5b50\u30922\u672c\u30bb\u30c3\u30c8\u3067\u6301\u3063\u3066\u3044\u307e\u3059\u304c\u3001\u305d\u306e\u3046\u3061\u306e\u7247\u65b9\u306eTUBB4A\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u3042\u308c\u3070\u767a\u75c7\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001HLD6\u306e\u60a3\u8005\u3055\u3093\u306e\u307b\u3068\u3093\u3069\u306f\u3001\u3054\u4e21\u89aa\u304b\u3089\u907a\u4f1d\u3057\u305f\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3054\u4e21\u89aa\u306e\u907a\u4f1d\u5b50\u306f\u6b63\u5e38\u3067\u3001\u304a\u5b50\u3055\u3093\u306e\u4ee3\u3067\u521d\u3081\u3066\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u8d77\u3053\u308b\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09\u306e\u30b1\u30fc\u30b9\u304c\u5727\u5012\u7684\u306b\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306f\u3001\u53d7\u7cbe\u5375\u304c\u3067\u304d\u308b\u904e\u7a0b\u3001\u3042\u308b\u3044\u306f\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u3067\u304d\u308b\u904e\u7a0b\u3067\u5076\u7136\u306b\u8d77\u304d\u305f\u30b3\u30d4\u30fc\u30df\u30b9\u306e\u3088\u3046\u306a\u3082\u306e\u3067\u3042\u308a\u3001\u8ab0\u306e\u305b\u3044\u3067\u3082\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u598a\u5a20\u4e2d\u306e\u751f\u6d3b\u7fd2\u6163\u3084\u30b9\u30c8\u30ec\u30b9\u3001\u9ad8\u9f62\u51fa\u7523\u306a\u3069\u304c\u76f4\u63a5\u7684\u306a\u539f\u56e0\u3067\u8d77\u3053\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3057\u305f\u304c\u3063\u3066\u3001\u6b21\u306e\u304a\u5b50\u3055\u3093\u304c\u540c\u3058\u75c5\u6c17\u306b\u306a\u308b\u78ba\u7387\u306f\u3001\u4e00\u822c\u306e\u30ab\u30c3\u30d7\u30eb\u3068\u307b\u3068\u3093\u3069\u5909\u308f\u308a\u307e\u305b\u3093\uff08\u305f\u3060\u3057\u3001\u7a00\u306b\u6027\u817a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u3068\u3044\u3046\u73fe\u8c61\u304c\u3042\u308b\u305f\u3081\u3001\u5fc3\u914d\u306a\u5834\u5408\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u306e\u76f8\u8ac7\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\uff09\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"426\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/4211835_s.webp\" alt=\"\u8d64\u3061\u3083\u3093\" class=\"wp-image-121513\"\/><\/figure><\/div>\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u8a3a\u65ad\u3068\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8a3a\u65ad\u306f\u3001\u7279\u5fb4\u7684\u306a\u81e8\u5e8a\u75c7\u72b6\u3068\u3001MRI\u691c\u67fb\u3001\u305d\u3057\u3066\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306b\u3088\u3063\u3066\u78ba\u5b9a\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E8%84%B3MRI%E6%A4%9C%E6%9F%BB\"><\/span><strong>1. \u8133MRI\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8a3a\u65ad\u306e\u6700\u3082\u91cd\u8981\u306a\u624b\u304c\u304b\u308a\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>HLD6\u306eMRI\u753b\u50cf\u306b\u306f\u3001\u975e\u5e38\u306b\u7279\u5fb4\u7684\u306a\u30d1\u30bf\u30fc\u30f3\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4f4e\u9ac4\u9798\u5316<\/p>\n\n\n\n<p>T2\u5f37\u8abf\u753b\u50cf\u3068\u3044\u3046\u64ae\u5f71\u65b9\u6cd5\u3067\u3001\u672c\u6765\u306a\u3089\u9ed2\u304f\u6620\u308b\u306f\u305a\u306e\u767d\u8cea\u304c\u3001\u767d\u304f\uff08\u9ad8\u4fe1\u53f7\u306b\uff09\u6620\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u9ac4\u9798\u304c\u5c11\u306a\u3044\u3053\u3068\u3092\u793a\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u88ab\u6bbb\uff08\u3072\u304b\u304f\uff09\u306e\u840e\u7e2e<\/p>\n\n\n\n<p>\u5927\u8133\u57fa\u5e95\u6838\u306e\u4e00\u90e8\u3067\u3042\u308b\u88ab\u6bbb\u3068\u3044\u3046\u5834\u6240\u304c\u3001\u975e\u5e38\u306b\u5c0f\u3055\u304f\u306a\u3063\u3066\u3044\u308b\u3001\u3042\u308b\u3044\u306f\u307b\u3068\u3093\u3069\u898b\u3048\u306a\u304f\u306a\u3063\u3066\u3044\u308b\u306e\u304c\u5927\u304d\u306a\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>H-ABC\u306e\u300cABC\u300d\u306e\u300cA\u300d\u306fAtrophy\uff08\u840e\u7e2e\uff09\u3001\u300cB\u300d\u306fBasal Ganglia\uff08\u5927\u8133\u57fa\u5e95\u6838\uff09\u3092\u6307\u3057\u3066\u304a\u308a\u3001\u307e\u3055\u306b\u3053\u306e\u6240\u898b\u3092\u8868\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5c0f\u8133\u306e\u840e\u7e2e<\/p>\n\n\n\n<p>\u5c0f\u8133\u3001\u7279\u306b\u305d\u306e\u4e2d\u5fc3\u90e8\u3067\u3042\u308b\u5c0f\u8133\u866b\u90e8\u304c\u5c0f\u3055\u304f\u306a\u3063\u3066\u3044\u308b\u3053\u3068\u304c\u3088\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\"><\/span><strong>2. \u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u78ba\u5b9a\u8a3a\u65ad\u306e\u305f\u3081\u306b\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8840\u6db2\u3092\u63a1\u53d6\u3057\u3001DNA\u3092\u89e3\u6790\u3057\u3066TUBB4A\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u3042\u308b\u304b\u3092\u8abf\u3079\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6700\u8fd1\u3067\u306f\u3001\u8907\u6570\u306e\u907a\u4f1d\u5b50\u3092\u4e00\u5ea6\u306b\u8abf\u3079\u308b\u30d1\u30cd\u30eb\u691c\u67fb\u3084\u3001\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3068\u3044\u3063\u305f\u7db2\u7f85\u7684\u306a\u691c\u67fb\u304c\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u5897\u3048\u3066\u304a\u308a\u3001\u3053\u308c\u306b\u3088\u308a\u8a3a\u65ad\u3055\u308c\u308b\u30b1\u30fc\u30b9\u304c\u591a\u304f\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86\"><\/span><strong>\u6cbb\u7642\u3068\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u73fe\u5728\u306e\u533b\u5b66\u3067\u306f\u3001\u907a\u4f1d\u5b50\u3092\u4fee\u5fa9\u3057\u3066\u75c5\u6c17\u3092\u6839\u672c\u304b\u3089\u6cbb\u3059\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3057\u3066\u9069\u5207\u306a\u5bfe\u75c7\u7642\u6cd5\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u3092\u9ad8\u3081\u3001\u5408\u4f75\u75c7\u3092\u9632\u3050\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u5c0f\u5150\u795e\u7d4c\u79d1\u533b\u3092\u4e2d\u5fc3\u306b\u3001\u6574\u5f62\u5916\u79d1\u533b\u3001\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u30b9\u30bf\u30c3\u30d5\u3001\u770b\u8b77\u5e2b\u306a\u3069\u304c\u30c1\u30fc\u30e0\u3092\u7d44\u3093\u3067\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E3%83%AA%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%EF%BC%88%E7%99%82%E8%82%B2%EF%BC%89\"><\/span><strong>1. \u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff08\u7642\u80b2\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>HLD6\u306e\u304a\u5b50\u3055\u3093\u306b\u3068\u3063\u3066\u3001\u30ea\u30cf\u30d3\u30ea\u306f\u751f\u6d3b\u306e\u4e00\u90e8\u3068\u3082\u8a00\u3048\u308b\u91cd\u8981\u306a\u30b1\u30a2\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09<\/p>\n\n\n\n<p>\u7b4b\u8089\u306e\u7dca\u5f35\u3092\u548c\u3089\u3052\u308b\u30b9\u30c8\u30ec\u30c3\u30c1\u3084\u30de\u30c3\u30b5\u30fc\u30b8\u3092\u884c\u3044\u3001\u95a2\u7bc0\u304c\u56fa\u307e\u308b\u306e\u3092\u9632\u304e\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u5b50\u306e\u767a\u9054\u6bb5\u968e\u306b\u5408\u308f\u305b\u3066\u3001\u304a\u5ea7\u308a\u3084\u7acb\u4f4d\u306e\u4fdd\u6301\u3001\u6b69\u884c\u8a13\u7df4\u306a\u3069\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u4f53\u306b\u5408\u3063\u305f\u8eca\u6905\u5b50\u3084\u5ea7\u4f4d\u4fdd\u6301\u88c5\u7f6e\uff08\u5ea7\u308b\u305f\u3081\u306e\u6905\u5b50\uff09\u3001\u88c5\u5177\uff08\u8db3\u306e\u30b5\u30dd\u30fc\u30bf\u30fc\u306a\u3069\uff09\u3092\u4f5c\u6210\u3057\u3001\u5feb\u9069\u306a\u59ff\u52e2\u3092\u4fdd\u3066\u308b\u3088\u3046\u306b\u30b5\u30dd\u30fc\u30c8\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9069\u5207\u306a\u59ff\u52e2\u3092\u4fdd\u3064\u3053\u3068\u306f\u3001\u80cc\u9aa8\u306e\u5909\u5f62\uff08\u5074\u5f2f\u75c7\uff09\u3084\u80a1\u95a2\u7bc0\u8131\u81fc\u306e\u4e88\u9632\u306b\u3082\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09<\/p>\n\n\n\n<p>\u624b\u3092\u4f7f\u3046\u904a\u3073\u3084\u3001\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\u306e\u7df4\u7fd2\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30b9\u30a4\u30c3\u30c1\u306a\u3069\u306e\u798f\u7949\u6a5f\u5668\u3092\u4f7f\u3063\u3066\u304a\u3082\u3061\u3083\u3092\u52d5\u304b\u3057\u305f\u308a\u3001\u610f\u601d\u8868\u793a\u3092\u3057\u305f\u308a\u3059\u308b\u65b9\u6cd5\u3092\u7df4\u7fd2\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09<\/p>\n\n\n\n<p>\u98f2\u307f\u8fbc\u307f\uff08\u56a5\u4e0b\uff09\u306e\u8a13\u7df4\u3084\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u652f\u63f4\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a00\u8449\u304c\u51fa\u306b\u304f\u3044\u5834\u5408\u3067\u3082\u3001\u7d75\u30ab\u30fc\u30c9\u3084\u8996\u7dda\u5165\u529b\u88c5\u7f6e\u3001\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\u306a\u3069\u3092\u4f7f\u3063\u3066\u610f\u601d\u3092\u4f1d\u3048\u308b\u65b9\u6cd5\uff08AAC\uff09\u3092\u898b\u3064\u3051\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E8%96%AC%E7%89%A9%E7%99%82%E6%B3%95\"><\/span><strong>2. \u85ac\u7269\u7642\u6cd5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e3b\u306b\u30b8\u30b9\u30c8\u30cb\u30a2\u306a\u3069\u306e\u7b4b\u7dca\u5f35\u7570\u5e38\u306b\u5bfe\u3057\u3066\u304a\u85ac\u3092\u4f7f\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7b4b\u8089\u306e\u7dca\u5f35\u3092\u548c\u3089\u3052\u308b\u85ac\u3068\u3057\u3066\u3001\u30d0\u30af\u30ed\u30d5\u30a7\u30f3\u3084\u30b8\u30a2\u30bc\u30d1\u30e0\u3001\u30c0\u30f3\u30c8\u30ed\u30ec\u30f3\u306a\u3069\u304c\u4f7f\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u30ec\u30dc\u30c9\u30d1\uff08\u30d1\u30fc\u30ad\u30f3\u30bd\u30f3\u75c5\u306e\u85ac\uff09\u3084\u30c8\u30ea\u30d8\u30ad\u30b7\u30d5\u30a7\u30cb\u30b8\u30eb\uff08\u6297\u30b3\u30ea\u30f3\u85ac\uff09\u304c\u3001\u30b8\u30b9\u30c8\u30cb\u30a2\u3084\u4f53\u306e\u786c\u3055\u3092\u548c\u3089\u3052\u308b\u306e\u306b\u52b9\u679c\u304c\u3042\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7dca\u5f35\u304c\u5f37\u3044\u5834\u5408\u306f\u3001\u30dc\u30c4\u30ea\u30cc\u30b9\u7642\u6cd5\uff08\u30dc\u30c8\u30c3\u30af\u30b9\u6ce8\u5c04\uff09\u3092\u884c\u3063\u3066\u3001\u7279\u5b9a\u306e\u7b4b\u8089\u3092\u7de9\u3081\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E6%95%B4%E5%BD%A2%E5%A4%96%E7%A7%91%E7%9A%84%E6%B2%BB%E7%99%82\"><\/span><strong>3. \u6574\u5f62\u5916\u79d1\u7684\u6cbb\u7642<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7b4b\u8089\u306e\u7dca\u5f35\u304c\u7d9a\u304f\u3068\u3001\u80a1\u95a2\u7bc0\u304c\u5916\u308c\u3084\u3059\u304f\u306a\u3063\u305f\u308a\uff08\u8131\u81fc\uff09\u3001\u80cc\u9aa8\u304c\u66f2\u304c\u3063\u305f\u308a\uff08\u5074\u5f2f\u75c7\uff09\u3001\u8db3\u9996\u304c\u5909\u5f62\u3057\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5b9a\u671f\u7684\u306b\u30ec\u30f3\u30c8\u30b2\u30f3\u3067\u30c1\u30a7\u30c3\u30af\u3057\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u624b\u8853\u3084\u88c5\u5177\u306b\u3088\u308b\u6cbb\u7642\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E5%91%BC%E5%90%B8%E3%81%A8%E6%A0%84%E9%A4%8A%E3%81%AE%E7%AE%A1%E7%90%86\"><\/span><strong>4. \u547c\u5438\u3068\u6804\u990a\u306e\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u98f2\u307f\u8fbc\u307f\u304c\u60aa\u304f\u306a\u3063\u3066\u98df\u4e8b\u304c\u5341\u5206\u306b\u3068\u308c\u306a\u3044\u5834\u5408\u306f\u3001\u9f3b\u304b\u3089\u306e\u30c1\u30e5\u30fc\u30d6\u3084\u3001\u304a\u8179\u306b\u5c0f\u3055\u306a\u7a74\u3092\u958b\u3051\u3066\u76f4\u63a5\u6804\u990a\u3092\u5165\u308c\u308b\u80c3\u308d\u3046\u3068\u3044\u3046\u65b9\u6cd5\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u80c3\u308d\u3046\u306f\u300c\u98df\u3079\u308b\u697d\u3057\u307f\u3092\u596a\u3046\u3082\u306e\u300d\u3067\u306f\u306a\u304f\u3001\u300c\u6804\u990a\u3092\u3057\u3063\u304b\u308a\u6442\u3063\u3066\u4f53\u529b\u3092\u3064\u3051\u3001\u53e3\u304b\u3089\u98df\u3079\u308b\u7df4\u7fd2\u3092\u5b89\u5168\u306b\u7d9a\u3051\u308b\u305f\u3081\u306e\u571f\u53f0\u300d\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u547c\u5438\u304c\u6d45\u304f\u306a\u3063\u305f\u308a\u3001\u75f0\u304c\u51fa\u3057\u306b\u304f\u304f\u306a\u3063\u305f\u308a\u3059\u308b\u5834\u5408\u306f\u3001\u5438\u5f15\u5668\u3092\u4f7f\u3063\u305f\u308a\u3001\u547c\u5438\u306e\u30ea\u30cf\u30d3\u30ea\u3092\u884c\u3063\u305f\u308a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E6%9C%80%E6%96%B0%E3%81%AE%E7%A0%94%E7%A9%B6%E5%8B%95%E5%90%91\"><\/span><strong>5. \u6700\u65b0\u306e\u7814\u7a76\u52d5\u5411<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u73fe\u5728\u3001\u4e16\u754c\u4e2d\u3067HLD6\u306b\u5bfe\u3059\u308b\u65b0\u3057\u3044\u6cbb\u7642\u6cd5\u306e\u7814\u7a76\u304c\u9032\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4f8b\u3048\u3070\u3001\u5909\u7570\u3057\u305fTUBB4A\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u3092\u6291\u3048\u308b\u6838\u9178\u533b\u85ac\uff08ASO\u306a\u3069\uff09\u306e\u958b\u767a\u306a\u3069\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u3060\u5b9f\u9a13\u6bb5\u968e\u3084\u6cbb\u9a13\u306e\u6e96\u5099\u6bb5\u968e\u306e\u3082\u306e\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u5c06\u6765\u7684\u306b\u306f\u9032\u884c\u3092\u6b62\u3081\u305f\u308a\u3001\u75c7\u72b6\u3092\u6539\u5584\u3057\u305f\u308a\u3059\u308b\u6cbb\u7642\u85ac\u304c\u767b\u5834\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u60a3\u8005\u4f1a\u306a\u3069\u3092\u901a\u3058\u3066\u3001\u6700\u65b0\u306e\u60c5\u5831\u3092\u30c1\u30a7\u30c3\u30af\u3057\u3066\u304a\u304f\u3053\u3068\u3082\u5e0c\u671b\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%94%9F%E6%B4%BB%E4%B8%8A%E3%81%AE%E5%B7%A5%E5%A4%AB%E3%81%A8%E5%AE%B6%E6%97%8F%E3%81%AE%E3%82%B1%E3%82%A2\"><\/span><strong>\u751f\u6d3b\u4e0a\u306e\u5de5\u592b\u3068\u5bb6\u65cf\u306e\u30b1\u30a2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u533b\u7642\u7684\u306a\u30b1\u30a2\u3060\u3051\u3067\u306a\u304f\u3001\u65e5\u3005\u306e\u751f\u6d3b\u306e\u4e2d\u3067\u306e\u5de5\u592b\u3082\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u98df\u4e8b\u306e\u5de5\u592b<\/p>\n\n\n\n<p>\u98f2\u307f\u8fbc\u307f\u306b\u304f\u3044\u5834\u5408\u306f\u3001\u3068\u308d\u307f\u5264\u3092\u4f7f\u3063\u305f\u308a\u3001\u30df\u30ad\u30b5\u30fc\u98df\u306b\u3057\u305f\u308a\u3057\u3066\u3001\u5b89\u5168\u306b\u98df\u3079\u3089\u308c\u308b\u5f62\u614b\u306b\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u59ff\u52e2\u3092\u5b89\u5b9a\u3055\u305b\u3066\u3042\u3052\u308b\u3060\u3051\u3067\u3001\u98f2\u307f\u8fbc\u307f\u304c\u30b9\u30e0\u30fc\u30ba\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3<\/p>\n\n\n\n<p>\u304a\u5b50\u3055\u3093\u306f\u3001\u8a00\u8449\u306b\u306a\u3089\u306a\u304f\u3066\u3082\u305f\u304f\u3055\u3093\u306e\u3053\u3068\u3092\u611f\u3058\u3001\u8003\u3048\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8868\u60c5\u306e\u308f\u305a\u304b\u306a\u5909\u5316\u3084\u3001\u8996\u7dda\u306e\u52d5\u304d\u3001\u58f0\u306e\u30c8\u30fc\u30f3\u306a\u3069\u304b\u3089\u3001\u304a\u5b50\u3055\u3093\u306e\u300c\u597d\u304d\u300d\u300c\u5acc\u3044\u300d\u300c\u697d\u3057\u3044\u300d\u300c\u75db\u3044\u300d\u3068\u3044\u3063\u305f\u30b5\u30a4\u30f3\u3092\u8aad\u307f\u53d6\u3063\u3066\u3042\u3052\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u300c\u308f\u304b\u3063\u3066\u3082\u3089\u3048\u305f\u300d\u3068\u3044\u3046\u7d4c\u9a13\u306f\u3001\u304a\u5b50\u3055\u3093\u306e\u5fc3\u3092\u6e80\u305f\u3057\u3001\u3055\u3089\u306a\u308b\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u610f\u6b32\u3092\u5f15\u304d\u51fa\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4f53\u6e29\u8abf\u7bc0<\/p>\n\n\n\n<p>\u81ea\u5f8b\u795e\u7d4c\u306e\u8abf\u7bc0\u304c\u82e6\u624b\u306a\u5834\u5408\u304c\u3042\u308a\u3001\u6691\u3044\u5834\u6240\u3084\u5bd2\u3044\u5834\u6240\u3067\u4f53\u6e29\u8abf\u7bc0\u304c\u3046\u307e\u304f\u3044\u304b\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5ba4\u6e29\u306e\u8abf\u6574\u3084\u3001\u8863\u670d\u3067\u306e\u8abf\u7bc0\u306b\u6c17\u3092\u3064\u3051\u3066\u3042\u3052\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%BE%E3%81%A8%E3%82%81\"><\/span><strong>\u307e\u3068\u3081<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u4f4e\u9ac4\u9798\u5316\u3092\u4f34\u3046\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc6\u578b\uff08HLD6\uff0fH-ABC\uff09\u306b\u3064\u3044\u3066\u306e\u89e3\u8aac\u3092\u307e\u3068\u3081\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u75c5\u6c17\u306e\u672c\u8cea\uff1a<\/strong> TUBB4A\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u3001\u8133\u306e\u9ac4\u9798\u5f62\u6210\u3068\u7279\u5b9a\u306e\u90e8\u4f4d\uff08\u5927\u8133\u57fa\u5e95\u6838\u30fb\u5c0f\u8133\uff09\u306e\u7dad\u6301\u306b\u554f\u984c\u304c\u751f\u3058\u308b\u5148\u5929\u6027\u306e\u75be\u60a3\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e3b\u306a\u75c7\u72b6\uff1a<\/strong> \u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u3001\u30b8\u30b9\u30c8\u30cb\u30a2\uff08\u7b4b\u8089\u306e\u3064\u3063\u3071\u308a\uff09\u3001\u5c0f\u8133\u5931\u8abf\uff08\u3075\u3089\u3064\u304d\uff09\u3001\u767a\u8a9e\u306e\u9045\u308c\u306a\u3069\u304c\u7279\u5fb4\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a3a\u65ad\u306e\u9375\uff1a<\/strong> MRI\u691c\u67fb\u3067\u3001\u767d\u8cea\u306e\u4f4e\u9ac4\u9798\u5316\u3068\u3001\u88ab\u6bbb\u3068\u3044\u3046\u90e8\u5206\u306e\u840e\u7e2e\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u8a3a\u65ad\u306e\u5927\u304d\u306a\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6cbb\u7642\u3068\u30b1\u30a2\uff1a<\/strong> \u6839\u672c\u6cbb\u7642\u306f\u307e\u3060\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3001\u7b4b\u7dca\u5f35\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3001\u547c\u5438\u30fb\u6804\u990a\u7ba1\u7406\u306b\u3088\u3063\u3066\u3001\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5e0c\u671b\uff1a<\/strong> \u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306f\u7406\u89e3\u529b\u304c\u3042\u308a\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u3092\u697d\u3057\u3080\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u307e\u305f\u3001\u65b0\u3057\u3044\u6cbb\u7642\u6cd5\u306e\u7814\u7a76\u3082\u9032\u3093\u3067\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/hld6-h-abc-syndrome-guide\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":122,"featured_media":119528,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-122746","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-1392"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122746","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/122"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=122746"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122746\/revisions"}],"predecessor-version":[{"id":126300,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122746\/revisions\/126300"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/119528"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122746"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=122746"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=122746"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}