{"id":123185,"date":"2026-01-16T11:22:11","date_gmt":"2026-01-16T02:22:11","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=123185"},"modified":"2026-03-31T12:16:56","modified_gmt":"2026-03-31T03:16:56","slug":"crouzon-syndrome-acanthosis-nigricans-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/crouzon-syndrome-acanthosis-nigricans-guide\/","title":{"rendered":"\u9ed2\u8272\u8868\u76ae\u816b\u3092\u4f34\u3046\u30af\u30eb\u30fc\u30be\u30f3\u75c7\u5019\u7fa4\uff08Crouzon syndrome with acanthosis nigricans\uff09"},"content":{"rendered":"\n<p>\u533b\u5e2b\u304b\u3089\u9ed2\u8272\u8868\u76ae\u816b\u3092\u4f34\u3046\u30af\u30eb\u30fc\u30be\u30f3\u75c7\u5019\u7fa4\u3068\u3044\u3046\u975e\u5e38\u306b\u9577\u304f\u3001\u805e\u304d\u6163\u308c\u306a\u3044\u8a3a\u65ad\u540d\u3092\u544a\u3052\u3089\u308c\u3001\u60c5\u5831\u3092\u6c42\u3081\u3066\u3053\u306e\u30da\u30fc\u30b8\u306b\u305f\u3069\u308a\u7740\u3044\u305f\u3054\u5bb6\u65cf\u306e\u7686\u69d8\u3078\u3002<\/p>\n\n\n\n<p>\u751f\u307e\u308c\u305f\u3070\u304b\u308a\u306e\u8d64\u3061\u3083\u3093\u3001\u3042\u308b\u3044\u306f\u5e7c\u5c11\u671f\u306e\u304a\u5b50\u69d8\u306b\u3001\u96e3\u75c5\u306e\u8a3a\u65ad\u304c\u4e0b\u308a\u3001\u8a08\u308a\u77e5\u308c\u306a\u3044\u30b7\u30e7\u30c3\u30af\u3068\u4e0d\u5b89\u306e\u4e2d\u306b\u3044\u3089\u3063\u3057\u3083\u308b\u3053\u3068\u3068\u601d\u3044\u307e\u3059\u3002\u7279\u306b\u3001\u3053\u306e\u75c5\u6c17\u306f\u4e00\u822c\u7684\u306a\u30af\u30eb\u30fc\u30be\u30f3\u75c7\u5019\u7fa4\u3088\u308a\u3082\u3055\u3089\u306b\u60a3\u8005\u6570\u304c\u5c11\u306a\u304f\u3001\u5e0c\u5c11\u75be\u60a3\u306e\u4e00\u3064\u306b\u6570\u3048\u3089\u308c\u308b\u305f\u3081\u3001\u65e5\u672c\u8a9e\u3067\u66f8\u304b\u308c\u305f\u8a73\u3057\u3044\u60c5\u5831\u306f\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u4e0a\u3067\u3082\u307b\u3068\u3093\u3069\u898b\u5f53\u305f\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u540d\u306f\u3001\u5927\u304d\u304f\u4e8c\u3064\u306e\u7279\u5fb4\u3092\u7d44\u307f\u5408\u308f\u305b\u305f\u3082\u306e\u3067\u3059\u3002\u4e00\u3064\u306f\u982d\u306e\u9aa8\u3084\u9854\u306e\u9aa8\u306e\u6210\u9577\u306b\u95a2\u308f\u308b\u30af\u30eb\u30fc\u30be\u30f3\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u3001\u3082\u3046\u4e00\u3064\u306f\u76ae\u819a\u304c\u9ed2\u3063\u307d\u304f\u539a\u304f\u306a\u308b\u9ed2\u8272\u8868\u76ae\u816b\u3068\u3044\u3046\u7279\u5fb4\u3067\u3059\u3002\u3053\u308c\u3089\u304c\u5408\u4f75\u3057\u3066\u3044\u308b\u3053\u3068\u304b\u3089\u3001\u3053\u306e\u540d\u524d\u304c\u3064\u3044\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u533b\u5b66\u7684\u306b\u306f\u3001\u982d\u84cb\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c7\u3068\u3044\u3046\u30b0\u30eb\u30fc\u30d7\u306b\u542b\u307e\u308c\u308b\u75c5\u6c17\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u540d\u524d\u3060\u3051\u3092\u805e\u304f\u3068\u975e\u5e38\u306b\u6016\u3044\u75c5\u6c17\u306e\u3088\u3046\u306b\u611f\u3058\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u539f\u56e0\u304c\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u306b\u3042\u308b\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u304a\u308a\u3001\u5f62\u6210\u5916\u79d1\u3084\u8133\u795e\u7d4c\u5916\u79d1\u3092\u4e2d\u5fc3\u3068\u3057\u305f\u30c1\u30fc\u30e0\u533b\u7642\u306b\u3088\u3063\u3066\u3001\u6a5f\u80fd\u3084\u898b\u305f\u76ee\u3092\u6539\u5584\u3059\u308b\u6cbb\u7642\u6cd5\u304c\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div 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>\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>\u9ed2\u8272\u8868\u76ae\u816b\u3092\u4f34\u3046\u30af\u30eb\u30fc\u30be\u30f3\u75c7\u5019\u7fa4\u306f\u3001\u751f\u307e\u308c\u3064\u304d\u306e\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u3063\u3066\u3001\u9aa8\u306e\u6210\u9577\u3068\u76ae\u819a\u306e\u72b6\u614b\u306b\u7279\u5fb4\u304c\u73fe\u308c\u308b\u5148\u5929\u6027\u306e\u75be\u60a3\u3067\u3059\u3002\u7565\u3057\u3066CAN\uff08\u30ad\u30e3\u30f3\uff09\u3068\u547c\u3070\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305a\u3001\u75c5\u6c17\u306e\u6838\u3068\u306a\u308b\u4e8c\u3064\u306e\u8981\u7d20\u306b\u3064\u3044\u3066\u8aac\u660e\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u30af\u30eb\u30fc\u30be\u30f3\u75c7\u5019\u7fa4\u306e\u7279\u5fb4<br>\u79c1\u305f\u3061\u306e\u982d\u84cb\u9aa8\u306f\u3001\u3044\u304f\u3064\u304b\u306e\u30d7\u30ec\u30fc\u30c8\u72b6\u306e\u9aa8\u304c\u7d44\u307f\u5408\u308f\u3055\u3063\u3066\u3067\u304d\u3066\u3044\u307e\u3059\u3002\u8d64\u3061\u3083\u3093\u306e\u9803\u306f\u3001\u3053\u306e\u9aa8\u3068\u9aa8\u306e\u3064\u306a\u304e\u76ee\uff08\u7e2b\u5408\u7dda\uff09\u304c\u958b\u3044\u3066\u3044\u3066\u3001\u8133\u306e\u6025\u6fc0\u306a\u6210\u9577\u306b\u5408\u308f\u305b\u3066\u982d\u304c\u5927\u304d\u304f\u306a\u308c\u308b\u3088\u3046\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002<br>\u3057\u304b\u3057\u3001\u3053\u306e\u75c5\u6c17\u3067\u306f\u3001\u305d\u306e\u3064\u306a\u304e\u76ee\u304c\u901a\u5e38\u3088\u308a\u3082\u65e9\u3044\u6642\u671f\u306b\u9589\u3058\u3066\u304f\u3063\u3064\u3044\u3066\u3057\u307e\u3044\u307e\u3059\u3002\u3053\u308c\u3092\u982d\u84cb\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c7\u3068\u3044\u3044\u307e\u3059\u3002<br>\u9aa8\u304c\u304f\u3063\u3064\u3044\u3066\u3057\u307e\u3046\u3068\u3001\u305d\u306e\u65b9\u5411\u306b\u306f\u982d\u304c\u5927\u304d\u304f\u306a\u308c\u306a\u3044\u305f\u3081\u3001\u982d\u306e\u5f62\u304c\u3044\u3073\u3064\u306b\u306a\u3063\u305f\u308a\u3001\u8133\u3078\u306e\u5727\u529b\u304c\u9ad8\u307e\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u9854\u306e\u9aa8\u306e\u6210\u9577\u3082\u3086\u3063\u304f\u308a\u306b\u306a\u308b\u305f\u3081\u3001\u76ee\u304c\u5927\u304d\u304f\u898b\u3048\u305f\u308a\u3001\u565b\u307f\u5408\u308f\u305b\u304c\u5408\u308f\u306a\u304f\u306a\u3063\u305f\u308a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u9ed2\u8272\u8868\u76ae\u816b\u306e\u7279\u5fb4<br>\u3053\u308c\u306f\u76ae\u819a\u306e\u75c7\u72b6\u3067\u3059\u3002\u9996\u306e\u5468\u308a\u3084\u8107\u306e\u4e0b\u3001\u8db3\u306e\u4ed8\u3051\u6839\u306a\u3069\u306e\u76ae\u819a\u304c\u3001\u30d9\u30eb\u30d9\u30c3\u30c8\u306e\u3088\u3046\u306b\u5c11\u3057\u539a\u304f\u306a\u308a\u3001\u9ed2\u3063\u307d\u304f\u8272\u7d20\u6c88\u7740\u3092\u8d77\u3053\u3059\u72b6\u614b\u3092\u6307\u3057\u307e\u3059\u3002<br>\u901a\u5e38\u306e\u30af\u30eb\u30fc\u30be\u30f3\u75c7\u5019\u7fa4\u306b\u306f\u3053\u306e\u76ae\u819a\u75c7\u72b6\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u3053\u3053\u304c\u6700\u5927\u306e\u9055\u3044\u3067\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001FGFR3\u3068\u3044\u3046\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u901a\u5e38\u306e\u30af\u30eb\u30fc\u30be\u30f3\u75c7\u5019\u7fa4\u306fFGFR2\u3068\u3044\u3046\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u306e\u3067\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3082\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u77e5\u7684\u306a\u767a\u9054\u306b\u3064\u3044\u3066\u306f\u3001\u6b63\u5e38\u3067\u3042\u308b\u3053\u3068\u3082\u591a\u3044\u3067\u3059\u304c\u3001\u8133\u3078\u306e\u5727\u529b\u304c\u9577\u304f\u7d9a\u3044\u305f\u308a\u3001\u6c34\u982d\u75c7\u306a\u3069\u3092\u5408\u4f75\u3057\u305f\u308a\u3057\u305f\u5834\u5408\u306b\u306f\u5f71\u97ff\u304c\u51fa\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u9069\u5207\u306a\u6642\u671f\u306b\u6cbb\u7642\u3092\u884c\u3046\u3053\u3068\u304c\u3001\u304a\u5b50\u3055\u3093\u306e\u53ef\u80fd\u6027\u3092\u5b88\u308b\u3053\u3068\u306b\u3064\u306a\u304c\u308a\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>\u3053\u306e\u75c5\u6c17\u306e\u75c7\u72b6\u306f\u3001\u982d\u3084\u9854\u306e\u5f62\u3001\u76ae\u819a\u306e\u72b6\u614b\u3001\u305d\u3057\u3066\u305d\u306e\u4ed6\u306e\u8eab\u4f53\u7684\u306a\u7279\u5fb4\u306b\u5206\u3051\u3089\u308c\u307e\u3059\u3002\u304a\u5b50\u3055\u3093\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u91cd\u3055\u3084\u51fa\u308b\u6642\u671f\u306f\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u4ee3\u8868\u7684\u306a\u3082\u306e\u3092\u898b\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E9%A0%AD%E8%93%8B%E9%AA%A8%E3%81%A8%E9%A1%94%E9%9D%A2%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span><strong>1. \u982d\u84cb\u9aa8\u3068\u9854\u9762\u306e\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306b\u304a\u3044\u3066\u3001\u751f\u307e\u308c\u305f\u6642\u3001\u3042\u308b\u3044\u306f\u751f\u5f8c\u6570\u30f6\u6708\u306e\u3046\u3061\u306b\u982d\u3084\u9854\u306e\u5f62\u306e\u7279\u5fb4\u306b\u6c17\u3065\u304b\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u982d\u306e\u5f62\u306e\u5909\u5316<\/p>\n\n\n\n<p>\u982d\u306e\u9aa8\u306e\u3064\u306a\u304e\u76ee\u304c\u65e9\u304f\u9589\u3058\u3066\u3057\u307e\u3046\u305f\u3081\u3001\u9589\u3058\u305f\u5834\u6240\u306b\u3088\u3063\u3066\u982d\u306e\u5f62\u304c\u5909\u308f\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4f8b\u3048\u3070\u3001\u982d\u306e\u3066\u3063\u307a\u3093\u304c\u5c16\u3063\u305f\u3088\u3046\u306b\u306a\u3063\u305f\u308a\u3001\u524d\u5f8c\u304c\u77ed\u304f\u6a2a\u5e45\u304c\u5e83\u304f\u306a\u3063\u305f\u308a\u3001\u304a\u3067\u3053\u304c\u524d\u306b\u51fa\u3063\u5f35\u3063\u305f\u308a\u3057\u307e\u3059\u3002\u30af\u30ed\u30fc\u30d0\u30fc\u8449\u982d\u84cb\u3068\u547c\u3070\u308c\u308b\u3001\u7279\u5fb4\u7684\u306a\u5f62\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9854\u306e\u4e2d\u592e\u90e8\u306e\u5f62\u6210\u4e0d\u5168<\/p>\n\n\n\n<p>\u9854\u306e\u771f\u3093\u4e2d\u3042\u305f\u308a\uff08\u4e0a\u3042\u3054\u3084\u9f3b\u306e\u5468\u8fba\uff09\u306e\u9aa8\u306e\u6210\u9577\u304c\u3001\u982d\u306e\u5f8c\u308d\u3084\u4e0b\u3042\u3054\u306b\u6bd4\u3079\u3066\u3086\u3063\u304f\u308a\u3067\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u9854\u306e\u4e2d\u592e\u304c\u5c11\u3057\u3078\u3053\u3093\u3060\u3088\u3046\u306b\u898b\u3048\u305f\u308a\u3001\u4e0b\u3042\u3054\u304c\u76f8\u5bfe\u7684\u306b\u524d\u306b\u51fa\u3066\u3044\u308b\u53d7\u3051\u53e3\u306b\u306a\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u773c\u7403\u7a81\u51fa<\/p>\n\n\n\n<p>\u76ee\u306e\u5468\u308a\u306e\u9aa8\uff08\u773c\u7aa9\uff09\u304c\u6d45\u304f\u306a\u308b\u305f\u3081\u3001\u773c\u7403\u304c\u524d\u306b\u51fa\u3063\u5f35\u3063\u3066\u3044\u308b\u3088\u3046\u306b\u898b\u3048\u307e\u3059\u3002\u76ee\u304c\u30af\u30ea\u30c3\u3068\u3057\u3066\u5927\u304d\u304f\u898b\u3048\u308b\u306e\u304c\u7279\u5fb4\u3067\u3059\u304c\u3001\u307e\u3076\u305f\u304c\u5b8c\u5168\u306b\u9589\u3058\u306b\u304f\u304f\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u4e21\u76ee\u306e\u9593\u9694\u304c\u96e2\u308c\u3066\u3044\u308b\uff08\u773c\u9593\u958b\u96e2\uff09\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u547c\u5438\u306e\u554f\u984c<\/p>\n\n\n\n<p>\u9f3b\u306e\u5965\u306e\u901a\u308a\u9053\u3084\u3001\u7a7a\u6c17\u306e\u901a\u308a\u9053\u3067\u3042\u308b\u6c17\u9053\u304c\u72ed\u304f\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u9f3b\u3065\u307e\u308a\u3084\u3044\u3073\u304d\u3001\u7761\u7720\u6642\u7121\u547c\u5438\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u91cd\u5ea6\u306e\u5834\u5408\u306f\u3001\u9f3b\u306e\u5965\u304c\u9aa8\u3067\u3075\u3055\u304c\u3063\u3066\u3044\u308b\u5f8c\u9f3b\u5b54\u9589\u9396\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=\"2_%E7%9A%AE%E8%86%9A%E3%81%AE%E7%97%87%E7%8A%B6%EF%BC%88%E9%BB%92%E8%89%B2%E8%A1%A8%E7%9A%AE%E8%85%AB%EF%BC%89\"><\/span><strong>2. \u76ae\u819a\u306e\u75c7\u72b6\uff08\u9ed2\u8272\u8868\u76ae\u816b\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u3092\u7279\u5b9a\u3059\u308b\u4e0a\u3067\u6700\u3082\u91cd\u8981\u306a\u30b5\u30a4\u30f3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u9996\u306e\u5468\u308a\u3001\u8107\u306e\u4e0b\u3001\u8098\u306e\u5185\u5074\u3001\u819d\u306e\u88cf\u3001\u304a\u8179\u306e\u3057\u308f\u3001\u307e\u3076\u305f\u3001\u53e3\u306e\u5468\u308a\u306a\u3069\u306e\u76ae\u819a\u306b\u5909\u5316\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u76ae\u819a\u304c\u539a\u304f\u3001\u3056\u3089\u3056\u3089\u3068\u3057\u305f\u30d9\u30eb\u30d9\u30c3\u30c8\u72b6\u306b\u306a\u308a\u3001\u8272\u304c\u9ed2\u305a\u3093\u3067\u898b\u3048\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c7\u72b6\u306f\u3001\u751f\u307e\u308c\u305f\u6642\u306b\u306f\u76ee\u7acb\u305f\u305a\u3001\u5e7c\u5c11\u671f\u304b\u3089\u5b66\u7ae5\u671f\u306b\u304b\u3051\u3066\u5f90\u3005\u306b\u73fe\u308c\u3066\u304f\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5358\u306a\u308b\u6c5a\u308c\u3084\u65e5\u713c\u3051\u3068\u9593\u9055\u308f\u308c\u3084\u3059\u304f\u3001\u300c\u6d17\u3063\u3066\u3082\u843d\u3061\u306a\u3044\u300d\u3068\u76f8\u8ac7\u306b\u6765\u3089\u308c\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_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E7%97%87%E7%8A%B6\"><\/span><strong>3. \u305d\u306e\u4ed6\u306e\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6c34\u982d\u75c7<\/p>\n\n\n\n<p>\u8133\u306e\u4e2d\u306b\u3042\u308b\u8133\u5ba4\u3068\u3044\u3046\u90e8\u5c4b\u306b\u3001\u8133\u810a\u9ac4\u6db2\u3068\u3044\u3046\u6db2\u4f53\u304c\u904e\u5270\u306b\u305f\u307e\u3063\u3066\u3057\u307e\u3046\u72b6\u614b\u3067\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u8133\u304c\u5727\u8feb\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6b6f\u4e26\u3073\u306e\u554f\u984c<\/p>\n\n\n\n<p>\u4e0a\u3042\u3054\u304c\u5c0f\u3055\u3044\u305f\u3081\u3001\u6b6f\u304c\u751f\u3048\u308b\u30b9\u30da\u30fc\u30b9\u304c\u8db3\u308a\u305a\u3001\u6b6f\u304c\u91cd\u306a\u308a\u5408\u3063\u3066\u751f\u3048\u308b\u53e2\u751f\uff08\u305d\u3046\u305b\u3044\uff09\u3084\u3001\u565b\u307f\u5408\u308f\u305b\u306e\u7570\u5e38\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30ad\u30a2\u30ea\u5947\u5f62<\/p>\n\n\n\n<p>\u5c0f\u8133\u306e\u4e00\u90e8\u304c\u810a\u9ac4\u306e\u65b9\u3078\u843d\u3061\u8fbc\u3093\u3067\u3057\u307e\u3046\u72b6\u614b\u3067\u3001\u982d\u75db\u3084\u3081\u307e\u3044\u306e\u539f\u56e0\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u810a\u690e\u306e\u7570\u5e38<\/p>\n\n\n\n<p>\u80cc\u9aa8\u306e\u5f62\u306b\u5909\u5316\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u306a\u304a\u3001\u30a2\u30da\u30fc\u30eb\u75c7\u5019\u7fa4\u306a\u3069\u306e\u4ed6\u306e\u982d\u84cb\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c7\u3067\u898b\u3089\u308c\u308b\u3088\u3046\u306a\u3001\u624b\u8db3\u306e\u6307\u304c\u304f\u3063\u3064\u304f\u5408\u6307\u75c7\u306f\u3001\u3053\u306e\u75c5\u6c17\u3067\u306f\u57fa\u672c\u7684\u306b\u306f\u898b\u3089\u308c\u307e\u305b\u3093\u3002\u624b\u8db3\u306e\u9aa8\u683c\u306f\u6b63\u5e38\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\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\u9aa8\u304c\u65e9\u304f\u304f\u3063\u3064\u3044\u305f\u308a\u3001\u76ae\u819a\u304c\u9ed2\u304f\u306a\u3063\u305f\u308a\u3059\u308b\u306e\u3067\u3057\u3087\u3046\u304b\u3002\u305d\u306e\u539f\u56e0\u306f\u3001\u7d30\u80de\u306e\u6210\u9577\u3092\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3059\u308b\u6307\u4ee4\u306e\u8aa4\u4f5c\u52d5\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"FGFR3%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%A4%89%E7%95%B0\"><\/span><strong>FGFR3\u907a\u4f1d\u5b50\u306e\u5909\u7570<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u9ed2\u8272\u8868\u76ae\u816b\u3092\u4f34\u3046\u30af\u30eb\u30fc\u30be\u30f3\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u306f\u3001\u7b2c4\u756a\u67d3\u8272\u4f53\u306b\u3042\u308bFGFR3\uff08\u30a8\u30d5\u30fb\u30b8\u30fc\u30fb\u30a8\u30d5\u30fb\u30a2\u30fc\u30eb\u30fb\u30b9\u30ea\u30fc\uff09\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5177\u4f53\u7684\u306b\u306f\u3001\u3053\u306e\u907a\u4f1d\u5b50\u306e\u4e2d\u306e\u7279\u5b9a\u306e\u4e00\u7b87\u6240\uff08Ala391Glu\u5909\u7570\uff09\u306b\u5909\u5316\u304c\u8d77\u304d\u3066\u3044\u308b\u3053\u3068\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u7dda\u7dad\u82bd\u7d30\u80de\u5897\u6b96\u56e0\u5b50\u53d7\u5bb9\u4f533\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308b\u8a2d\u8a08\u56f3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u53d7\u5bb9\u4f53\u306f\u3001\u7d30\u80de\u306e\u8868\u9762\u306b\u3042\u3063\u3066\u3001\u5916\u304b\u3089\u306e\u300c\u6210\u9577\u3057\u306a\u3055\u3044\u300d\u300c\u5206\u5316\u3057\u306a\u3055\u3044\u300d\u3068\u3044\u3046\u547d\u4ee4\u3092\u53d7\u3051\u53d6\u308b\u30a2\u30f3\u30c6\u30ca\u306e\u3088\u3046\u306a\u5f79\u5272\u3092\u3057\u3066\u3044\u307e\u3059\u3002\u7279\u306b\u3001\u9aa8\u306e\u6210\u9577\u3084\u76ae\u819a\u306e\u7d30\u80de\u306e\u5897\u6b96\u3092\u8abf\u7bc0\u3059\u308b\u306e\u306b\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%A4%89%E7%95%B0%E3%81%AB%E3%82%88%E3%82%8B%E5%BD%B1%E9%9F%BF\"><\/span><strong>\u5909\u7570\u306b\u3088\u308b\u5f71\u97ff<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u3042\u308b\u3068\u3001\u3053\u306e\u30a2\u30f3\u30c6\u30ca\u304c\u904e\u654f\u306b\u306a\u308a\u3001\u547d\u4ee4\u304c\u6765\u3066\u3044\u306a\u3044\u306e\u306b\u52dd\u624b\u306b\u300c\u30b9\u30a4\u30c3\u30c1\u30aa\u30f3\u300d\u306e\u72b6\u614b\u306b\u306a\u3063\u3066\u3057\u307e\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9aa8\u3078\u306e\u5f71\u97ff<\/p>\n\n\n\n<p>\u982d\u84cb\u9aa8\u306e\u7d99\u304e\u76ee\u306b\u3042\u308b\u7d30\u80de\u306b\u5bfe\u3057\u3066\u3001\u672c\u6765\u3088\u308a\u3082\u65e9\u304f\u300c\u9aa8\u306b\u306a\u308a\u306a\u3055\u3044\u300d\u3068\u3044\u3046\u6307\u4ee4\u304c\u51fa\u7d9a\u3051\u3066\u3057\u307e\u3044\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u307e\u3060\u6210\u9577\u304c\u5fc5\u8981\u306a\u6642\u671f\u306b\u7d99\u304e\u76ee\u304c\u9aa8\u306b\u5909\u308f\u3063\u3066\u3057\u307e\u3044\u3001\u65e9\u671f\u7652\u5408\u304c\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u76ae\u819a\u3078\u306e\u5f71\u97ff<\/p>\n\n\n\n<p>\u76ae\u819a\u306e\u89d2\u5316\u7d30\u80de\uff08\u30b1\u30e9\u30c1\u30ce\u30b5\u30a4\u30c8\uff09\u306b\u5bfe\u3057\u3066\u3001\u904e\u5270\u306b\u5897\u6b96\u3059\u308b\u3088\u3046\u306a\u6307\u4ee4\u304c\u51fa\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u76ae\u819a\u304c\u539a\u304f\u306a\u308a\u3001\u8272\u7d20\u6c88\u7740\u3092\u8d77\u3053\u3057\u3066\u9ed2\u8272\u8868\u76ae\u816b\u3068\u306a\u308a\u307e\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\uff08\u512a\u6027\u907a\u4f1d\uff09\u3068\u3044\u3046\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306f\u3001\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u3053\u306e\u75c5\u6c17\u3067\u3042\u308b\u5834\u5408\u300150\u30d1\u30fc\u30bb\u30f3\u30c8\u306e\u78ba\u7387\u3067\u304a\u5b50\u3055\u3093\u306b\u907a\u4f1d\u3059\u308b\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u5b9f\u969b\u306b\u306f\u3054\u4e21\u89aa\u306f\u5065\u5eb7\u3067\u907a\u4f1d\u5b50\u306b\u3082\u7570\u5e38\u304c\u306a\u304f\u3001\u304a\u5b50\u3055\u3093\u306e\u4ee3\u3067\u521d\u3081\u3066\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u8d77\u304d\u305f\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09\u306b\u3088\u308b\u30b1\u30fc\u30b9\u3082\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3064\u307e\u308a\u3001\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u306e\u305b\u3044\u3067\u907a\u4f1d\u3057\u305f\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u307e\u305f\u3001\u598a\u5a20\u4e2d\u306e\u304a\u6bcd\u3055\u3093\u306e\u98df\u4e8b\u3001\u304a\u85ac\u3001\u30b9\u30c8\u30ec\u30b9\u3001\u74b0\u5883\u306a\u3069\u304c\u539f\u56e0\u3067\u8d77\u304d\u308b\u3082\u306e\u3067\u3082\u6c7a\u3057\u3066\u3042\u308a\u307e\u305b\u3093\u3002\u8ab0\u306b\u3067\u3082\u8d77\u3053\u308a\u3046\u308b\u3001\u751f\u547d\u306e\u8a95\u751f\u306b\u304a\u3051\u308b\u5076\u7136\u306e\u73fe\u8c61\u306a\u306e\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=\"%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\u898b\u305f\u76ee\u306e\u75c7\u72b6\u3001\u753b\u50cf\u691c\u67fb\u3001\u305d\u3057\u3066\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E8%BA%AB%E4%BD%93%E6%89%80%E8%A6%8B%E3%81%AE%E7%A2%BA%E8%AA%8D\"><\/span><strong>1. \u8eab\u4f53\u6240\u898b\u306e\u78ba\u8a8d<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u533b\u5e2b\u306f\u3001\u982d\u306e\u5f62\u3001\u9854\u7acb\u3061\u3001\u305d\u3057\u3066\u76ae\u819a\u306e\u72b6\u614b\u3092\u8a73\u3057\u304f\u89b3\u5bdf\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3001\u30af\u30eb\u30fc\u30be\u30f3\u75c7\u5019\u7fa4\u306e\u3088\u3046\u306a\u9854\u7acb\u3061\u306b\u52a0\u3048\u3066\u3001\u76ae\u819a\u306e\u9ed2\u305a\u307f\uff08\u9ed2\u8272\u8868\u76ae\u816b\uff09\u304c\u3042\u308b\u304b\u3069\u3046\u304b\u304c\u91cd\u8981\u306a\u30dd\u30a4\u30f3\u30c8\u306b\u306a\u308a\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u4e73\u5150\u671f\u306b\u306f\u76ae\u819a\u75c7\u72b6\u304c\u51fa\u3066\u3044\u306a\u3044\u3053\u3068\u3082\u3042\u308b\u305f\u3081\u3001\u6ce8\u610f\u6df1\u3044\u7d4c\u904e\u89b3\u5bdf\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB\"><\/span><strong>2. \u753b\u50cf\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30ec\u30f3\u30c8\u30b2\u30f3\u691c\u67fb<\/p>\n\n\n\n<p>\u982d\u84cb\u9aa8\u306e\u7e2b\u5408\u7dda\u304c\u9589\u3058\u3066\u3044\u308b\u304b\u3069\u3046\u304b\u3001\u6307\u5727\u75d5\uff08\u8133\u5727\u304c\u9ad8\u3044\u305f\u3081\u306b\u982d\u84cb\u9aa8\u306e\u5185\u5074\u306b\u3067\u304d\u308b\u6307\u3067\u62bc\u3057\u305f\u3088\u3046\u306a\u8de1\uff09\u304c\u3042\u308b\u304b\u306a\u3069\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>CT\u691c\u67fb\uff083D-CT\uff09<\/p>\n\n\n\n<p>\u982d\u84cb\u9aa8\u3084\u9854\u9762\u306e\u9aa8\u306e\u5f62\u3092\u7acb\u4f53\u7684\u306b\u8a73\u3057\u304f\u8abf\u3079\u307e\u3059\u3002\u3069\u306e\u7e2b\u5408\u7dda\u304c\u9589\u3058\u3066\u3044\u308b\u304b\u3001\u773c\u7aa9\u306e\u5f62\u306f\u3069\u3046\u306a\u3063\u3066\u3044\u308b\u304b\u3001\u624b\u8853\u306e\u8a08\u753b\u3092\u7acb\u3066\u308b\u305f\u3081\u306b\u4e0d\u53ef\u6b20\u306a\u691c\u67fb\u3067\u3059\u3002<\/p>\n\n\n\n<p>MRI\u691c\u67fb<\/p>\n\n\n\n<p>\u8133\u306e\u5f62\u3084\u3001\u6c34\u982d\u75c7\u306e\u6709\u7121\u3001\u30ad\u30a2\u30ea\u5947\u5f62\u306e\u6709\u7121\u306a\u3069\u3092\u8abf\u3079\u307e\u3059\u3002\u9aa8\u3067\u306f\u306a\u304f\u8133\u305d\u306e\u3082\u306e\u306e\u72b6\u614b\u3092\u898b\u308b\u305f\u3081\u306b\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\"><\/span><strong>3. \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\u3001\u8840\u6db2\u3092\u63a1\u53d6\u3057\u3066DNA\u3092\u8abf\u3079\u308b\u691c\u67fb\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>FGFR3\u907a\u4f1d\u5b50\u306e\u7279\u5b9a\u306e\u5909\u7570\uff08A391E\uff09\u304c\u3042\u308b\u304b\u3069\u3046\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u901a\u5e38\u306e\u30af\u30eb\u30fc\u30be\u30f3\u75c7\u5019\u7fa4\uff08FGFR2\u5909\u7570\uff09\u3068\u533a\u5225\u3059\u308b\u305f\u3081\u306b\u3082\u3001\u3053\u306e\u691c\u67fb\u306f\u91cd\u8981\u3067\u3059\u3002\u8a3a\u65ad\u304c\u78ba\u5b9a\u3059\u308b\u3053\u3068\u3067\u3001\u5c06\u6765\u306e\u898b\u901a\u3057\u3084\u5408\u4f75\u75c7\u306e\u4e88\u6e2c\u304c\u3057\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/28046312_s.webp\" alt=\"\" class=\"wp-image-123194\"\/><\/figure><\/div>\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>\u3053\u306e\u75c5\u6c17\u306e\u6cbb\u7642\u306f\u3001\u5f62\u6210\u5916\u79d1\u3001\u8133\u795e\u7d4c\u5916\u79d1\u3001\u77ef\u6b63\u6b6f\u79d1\u3001\u773c\u79d1\u3001\u8033\u9f3b\u54bd\u5589\u79d1\u3001\u76ae\u819a\u79d1\u3001\u5c0f\u5150\u79d1\u306a\u3069\u304c\u9023\u643a\u3059\u308b\u30c1\u30fc\u30e0\u533b\u7642\u3067\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u5ea6\u306e\u624b\u8853\u3067\u7d42\u308f\u308a\u3067\u306f\u306a\u304f\u3001\u304a\u5b50\u3055\u3093\u306e\u6210\u9577\u306b\u5408\u308f\u305b\u3066\u3001\u9577\u671f\u7684\u306a\u8a08\u753b\u3067\u6cbb\u7642\u3092\u9032\u3081\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E9%A0%AD%E8%93%8B%E9%AA%A8%E3%81%A8%E8%84%B3%E3%81%AE%E6%89%8B%E8%A1%93\"><\/span><strong>1. \u982d\u84cb\u9aa8\u3068\u8133\u306e\u624b\u8853<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8133\u304c\u6210\u9577\u3059\u308b\u305f\u3081\u306e\u30b9\u30da\u30fc\u30b9\u3092\u78ba\u4fdd\u3057\u3001\u982d\u84cb\u5185\u5727\uff08\u8133\u5727\uff09\u3092\u4e0b\u3052\u308b\u3053\u3068\u3001\u305d\u3057\u3066\u982d\u306e\u5f62\u3092\u6574\u3048\u308b\u3053\u3068\u304c\u76ee\u7684\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u982d\u84cb\u5f62\u6210\u8853\uff08\u7e2b\u5408\u958b\u96e2\u8853\u30fb\u9aa8\u5ef6\u9577\u8853\uff09<\/p>\n\n\n\n<p>\u751f\u5f8c\u6570\u30f6\u6708\u304b\u30891\u6b73\u9803\u306b\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u624b\u8853\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7652\u5408\u3057\u3066\u3057\u307e\u3063\u305f\u9aa8\u306e\u3064\u306a\u304e\u76ee\u3092\u5207\u308a\u96e2\u3057\u3001\u9aa8\u3092\u5e83\u3052\u3066\u56fa\u5b9a\u3057\u305f\u308a\u3001\u5ef6\u9577\u5668\u3068\u3044\u3046\u88c5\u7f6e\u3092\u4f7f\u3063\u3066\u5f90\u3005\u306b\u9aa8\u3092\u5e83\u3052\u305f\u308a\uff08\u9aa8\u5ef6\u9577\u6cd5\uff09\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6700\u8fd1\u3067\u306f\u3001\u5438\u53ce\u6027\u30d7\u30ec\u30fc\u30c8\u3092\u7528\u3044\u305f\u308a\u3001\u5ef6\u9577\u5668\u3092\u4f7f\u3063\u3066\u4f53\u3078\u306e\u8ca0\u62c5\u3092\u6e1b\u3089\u3057\u306a\u304c\u3089\u5927\u304d\u304f\u982d\u84cb\u9aa8\u3092\u5e83\u3052\u308b\u65b9\u6cd5\uff08\u982d\u84cb\u9aa8\u5ef6\u9577\u6cd5\uff09\u304c\u9078\u629e\u3055\u308c\u308b\u3053\u3068\u304c\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E9%A1%94%E9%9D%A2%E3%81%AE%E6%89%8B%E8%A1%93\"><\/span><strong>2. \u9854\u9762\u306e\u624b\u8853<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u9854\u306e\u4e2d\u592e\u90e8\u3092\u524d\u306b\u51fa\u3059\u3053\u3068\u3067\u3001\u565b\u307f\u5408\u308f\u305b\u3092\u6539\u5584\u3057\u3001\u6c17\u9053\u3092\u5e83\u3052\u3001\u773c\u7403\u3092\u4fdd\u8b77\u3059\u308b\u3053\u3068\u304c\u76ee\u7684\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u30eb\u30fb\u30d5\u30a9\u30fcIII\u578b\u9aa8\u5207\u308a\u8853\u30fb\u9854\u9762\u9aa8\u5ef6\u9577\u8853<\/p>\n\n\n\n<p>\u5b66\u7ae5\u671f\u304b\u3089\u601d\u6625\u671f\u306b\u304b\u3051\u3066\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u624b\u8853\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u9854\u306e\u9aa8\u3092\u4e0a\u4e0b\u306b\u5207\u308a\u96e2\u3057\u3001\u30cf\u30ed\u30fc\u88c5\u7f6e\u3068\u3044\u3046\u982d\u306b\u3064\u3051\u308b\u67a0\u3092\u4f7f\u3063\u3066\u3001\u6570\u9031\u9593\u304b\u3051\u3066\u3086\u3063\u304f\u308a\u3068\u9854\u306e\u9aa8\u3092\u524d\u306b\u5f15\u304d\u51fa\u3057\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u3078\u3053\u3093\u3067\u3044\u305f\u9854\u306e\u4e2d\u592e\u304c\u524d\u306b\u51fa\u3066\u3001\u7acb\u4f53\u7684\u306a\u9854\u7acb\u3061\u306b\u306a\u308a\u3001\u547c\u5438\u3082\u3057\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30e2\u30f3\u30fb\u30d6\u30ed\u30c3\u30af\u9aa8\u5207\u308a\u8853<\/p>\n\n\n\n<p>\u304a\u3067\u3053\u306e\u9aa8\u3068\u9854\u306e\u9aa8\u3092\u4e00\u4f53\u3068\u3057\u3066\u524d\u306b\u51fa\u3059\u624b\u8853\u3067\u3059\u3002\u72b6\u6cc1\u306b\u5fdc\u3058\u3066\u9078\u629e\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E7%9C%BC%E7%A7%91%E7%9A%84%E3%82%B1%E3%82%A2\"><\/span><strong>3. \u773c\u79d1\u7684\u30b1\u30a2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u773c\u7403\u7a81\u51fa\u304c\u3042\u308b\u5834\u5408\u3001\u307e\u3076\u305f\u304c\u9589\u3058\u306b\u304f\u304f\u3001\u89d2\u819c\uff08\u9ed2\u76ee\uff09\u304c\u4e7e\u71e5\u3057\u3066\u50b7\u3064\u304d\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002\u70b9\u773c\u85ac\u3084\u8edf\u818f\u3067\u4fdd\u6e7f\u30b1\u30a2\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u8996\u529b\u3084\u4e71\u8996\u3001\u659c\u8996\u306e\u554f\u984c\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u773c\u93e1\u3084\u30a2\u30a4\u30d1\u30c3\u30c1\u306b\u3088\u308b\u6cbb\u7642\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u982d\u84cb\u5185\u5727\u304c\u9ad8\u304f\u306a\u308b\u3068\u8996\u795e\u7d4c\u304c\u5727\u8feb\u3055\u308c\u3066\u8996\u529b\u306b\u5f71\u97ff\u304c\u51fa\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u773c\u5e95\u691c\u67fb\u304c\u975e\u5e38\u306b\u91cd\u8981\u3067\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%AE%E7%AE%A1%E7%90%86\"><\/span><strong>4. \u547c\u5438\u306e\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7761\u7720\u6642\u7121\u547c\u5438\u304c\u3042\u308b\u5834\u5408\u306f\u3001CPAP\uff08\u30b7\u30fc\u30d1\u30c3\u30d7\uff09\u3068\u3044\u3046\u9f3b\u30de\u30b9\u30af\u3092\u3064\u3051\u3066\u5bdd\u308b\u6cbb\u7642\u3092\u884c\u3063\u305f\u308a\u3001\u30a2\u30c7\u30ce\u30a4\u30c9\u3084\u6241\u6843\u817a\u3092\u5207\u9664\u3059\u308b\u624b\u8853\u3092\u884c\u3063\u305f\u308a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9f3b\u306e\u5965\u304c\u9aa8\u3067\u3075\u3055\u304c\u3063\u3066\u3044\u308b\u5834\u5408\uff08\u5f8c\u9f3b\u5b54\u9589\u9396\uff09\u306f\u3001\u9aa8\u3092\u958b\u3051\u308b\u624b\u8853\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u91cd\u5ea6\u306e\u547c\u5438\u969c\u5bb3\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u4e00\u6642\u7684\u306b\u6c17\u7ba1\u5207\u958b\u3092\u884c\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=\"5_%E6%AD%AF%E7%A7%91%E3%83%BB%E7%9F%AF%E6%AD%A3%E6%B2%BB%E7%99%82\"><\/span><strong>5. \u6b6f\u79d1\u30fb\u77ef\u6b63\u6cbb\u7642<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e0a\u3042\u3054\u304c\u5c0f\u3055\u304f\u6b6f\u4e26\u3073\u304c\u60aa\u304f\u306a\u308a\u3084\u3059\u3044\u305f\u3081\u3001\u77ef\u6b63\u6b6f\u79d1\u3067\u306e\u9577\u671f\u7684\u306a\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5b50\u4f9b\u306e\u9803\u306f\u3001\u4e0a\u3042\u3054\u3092\u5e83\u3052\u308b\u88c5\u7f6e\u3092\u4f7f\u3063\u305f\u308a\u3001\u6210\u9577\u306b\u5408\u308f\u305b\u3066\u6b6f\u4e26\u3073\u3092\u6574\u3048\u305f\u308a\u3057\u307e\u3059\u3002\u6700\u7d42\u7684\u306b\u306f\u3001\u9854\u9762\u306e\u624b\u8853\u3068\u5408\u308f\u305b\u3066\u565b\u307f\u5408\u308f\u305b\u3092\u5b8c\u6210\u3055\u305b\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E7%9A%AE%E8%86%9A%E3%81%AE%E3%82%B1%E3%82%A2\"><\/span><strong>6. \u76ae\u819a\u306e\u30b1\u30a2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u9ed2\u8272\u8868\u76ae\u816b\u306b\u5bfe\u3059\u308b\u6cbb\u7642\u306f\u3001\u4e3b\u306b\u898b\u305f\u76ee\u306e\u6539\u5584\u3084\u4e0d\u5feb\u611f\u306e\u8efd\u6e1b\u304c\u76ee\u7684\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9ed2\u305a\u307f\u306f\u6c5a\u308c\u3067\u306f\u306a\u3044\u305f\u3081\u3001\u5f37\u304f\u3053\u3059\u3063\u3066\u6d17\u3046\u3053\u3068\u306f\u907f\u3051\u3066\u304f\u3060\u3055\u3044\u3002\u304b\u3048\u3063\u3066\u76ae\u819a\u3092\u50b7\u3081\u3001\u75c7\u72b6\u3092\u60aa\u5316\u3055\u305b\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4fdd\u6e7f\u5264\u3092\u4f7f\u3063\u3066\u76ae\u819a\u3092\u67d4\u3089\u304b\u304f\u4fdd\u3064\u3053\u3068\u304c\u57fa\u672c\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u76ae\u819a\u79d1\u3067\u3001\u89d2\u8cea\u3092\u67d4\u3089\u304b\u304f\u3059\u308b\u5857\u308a\u85ac\uff08\u30b5\u30ea\u30c1\u30eb\u9178\u30ef\u30bb\u30ea\u30f3\u3084\u5c3f\u7d20\u8edf\u818f\u306a\u3069\uff09\u3084\u3001\u30d3\u30bf\u30df\u30f3D3\u8edf\u818f\u306a\u3069\u304c\u51e6\u65b9\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u592a\u308a\u3059\u304e\u308b\u3068\u75c7\u72b6\u304c\u60aa\u5316\u3059\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001\u9069\u5207\u306a\u4f53\u91cd\u7ba1\u7406\u3082\u5927\u5207\u3067\u3059\u3002<\/p>\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>\u9ed2\u8272\u8868\u76ae\u816b\u3092\u4f34\u3046\u30af\u30eb\u30fc\u30be\u30f3\u75c7\u5019\u7fa4\uff08CAN\uff09\u306b\u3064\u3044\u3066\u306e\u91cd\u8981\u306a\u30dd\u30a4\u30f3\u30c8\u3092\u632f\u308a\u8fd4\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u75c5\u6c17\u306e\u672c\u8cea<\/p>\n\n\n\n<p>FGFR3\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u3001\u982d\u84cb\u9aa8\u306e\u65e9\u671f\u7652\u5408\u3068\u76ae\u819a\u306e\u9ed2\u8272\u8868\u76ae\u816b\u3092\u5408\u4f75\u3059\u308b\u5148\u5929\u6027\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e3b\u306a\u7279\u5fb4<\/p>\n\n\n\n<p>\u982d\u306e\u5f62\u306e\u5909\u5316\u3001\u9854\u9762\u4e2d\u592e\u90e8\u306e\u5f62\u6210\u4e0d\u5168\u3001\u773c\u7403\u7a81\u51fa\u3001\u305d\u3057\u3066\u9996\u3084\u8107\u306e\u4e0b\u306a\u3069\u306e\u76ae\u819a\u306e\u9ed2\u305a\u307f\u30fb\u80a5\u539a\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306e\u9375<\/p>\n\n\n\n<p>\u8133\u795e\u7d4c\u5916\u79d1\u3084\u5f62\u6210\u5916\u79d1\u306b\u3088\u308b\u982d\u84cb\u9aa8\u30fb\u9854\u9762\u306e\u624b\u8853\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002\u6210\u9577\u6bb5\u968e\u306b\u5408\u308f\u305b\u305f\u9577\u671f\u7684\u306a\u6cbb\u7642\u8a08\u753b\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u76ae\u819a\u30b1\u30a2<\/p>\n\n\n\n<p>\u9ed2\u305a\u307f\u306f\u6c5a\u308c\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u3053\u3059\u3089\u305a\u3001\u4fdd\u6e7f\u3084\u5857\u308a\u85ac\u3067\u30b1\u30a2\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30c1\u30fc\u30e0\u533b\u7642<\/p>\n\n\n\n<p>\u591a\u304f\u306e\u5c02\u9580\u79d1\u304c\u9023\u643a\u3057\u3066\u3001\u304a\u5b50\u3055\u3093\u306e\u6210\u9577\u3092\u30b5\u30dd\u30fc\u30c8\u3057\u307e\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","protected":false},"excerpt":{"rendered":"\u533b\u5e2b\u304b\u3089\u9ed2\u8272\u8868\u76ae\u816b\u3092\u4f34\u3046\u30af\u30eb\u30fc\u30be\u30f3\u75c7\u5019\u7fa4&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/crouzon-syndrome-acanthosis-nigricans-guide\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":151,"featured_media":123191,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-123185","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\/123185","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\/151"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=123185"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/123185\/revisions"}],"predecessor-version":[{"id":126239,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/123185\/revisions\/126239"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/123191"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=123185"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=123185"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=123185"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}