{"id":17220,"date":"2026-01-21T08:51:02","date_gmt":"2026-01-21T08:51:02","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17220"},"modified":"2026-01-21T08:51:02","modified_gmt":"2026-01-21T08:51:02","slug":"alagille-syndrome-1-algs1","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/alagille-syndrome-1-algs1\/","title":{"rendered":"Alagille syndrome 1 (ALGS1)"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u5225\u540d\u30fb\u95a2\u9023\u75be\u60a3\u540d<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30a2\u30e9\u30b8\u30fc\u30eb\u75c7\u5019\u7fa4\uff08Alagille syndrome; ALGS\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u81e8\u5e8a\u7684\u306b\u306f1\u578b\u30682\u578b\u3092\u533a\u5225\u305b\u305a\u3001\u7dcf\u79f0\u3057\u3066\u3053\u3046\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u52d5\u8108\u809d\u7570\u5f62\u6210\u75c7\uff08Arteriohepatic dysplasia; AHD\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u809d\u81d3\u3068\u5fc3\u8840\u7ba1\u7cfb\u306e\u7570\u5e38\u304c\u4e3b\u5fb4\u3067\u3042\u308b\u3053\u3068\u304b\u3089\u3064\u3051\u3089\u308c\u305f\u3001\u6b74\u53f2\u7684\u306a\u5225\u540d\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u75c7\u5019\u6027\u80c6\u7ba1\u6e1b\u5c11\u75c7\uff08Syndromic bile duct paucity\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u300c\u80c6\u7ba1\u304c\u5c11\u306a\u3044\u300d\u3068\u3044\u3046\u75c5\u7406\u5b66\u7684\u7279\u5fb4\u3092\u6307\u3059\u540d\u79f0\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u95a2\u9023\uff1aAlagille syndrome 2 (ALGS2)\n<ul class=\"wp-block-list\">\n<li>\u203b<em>NOTCH2<\/em>\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u30bf\u30a4\u30d7\u3067\u3059\u3002\u75c7\u72b6\u306fALGS1\u3068\u307b\u307c\u540c\u3058\u3067\u3059\u304c\u3001\u983b\u5ea6\u306f\u975e\u5e38\u306b\u4f4e\u304f\uff08\u5168\u4f53\u306e\u6570\uff05\uff09\u3001ALGS1\uff08<em>JAG1<\/em>\u5909\u7570\uff09\u304c\u5168\u4f53\u306e90\uff05\u4ee5\u4e0a\u3092\u5360\u3081\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u5bfe\u8c61\u67d3\u8272\u4f53\u9818\u57df<\/strong><\/h2>\n\n\n\n<p><strong>20\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff0912.2\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e20\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff08p\u30a2\u30fc\u30e0\uff09\u306e\u300c12.2\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\u306b\u4f4d\u7f6e\u3059\u308b\u3001<strong>JAG1\u907a\u4f1d\u5b50<\/strong>\u306e\u5909\u7570\u307e\u305f\u306f\u6b20\u5931\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068Notch\u30b7\u30b0\u30ca\u30eb\u3011<\/p>\n\n\n\n<p>\u3053\u306eJAG1\u907a\u4f1d\u5b50\u306f\u3001**\u300cNotch\uff08\u30ce\u30c3\u30c1\uff09\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u7d4c\u8def\u300d**\u3068\u3044\u3046\u3001\u7d30\u80de\u540c\u58eb\u306e\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u30b7\u30b9\u30c6\u30e0\u306b\u304a\u3044\u3066\u975e\u5e38\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5f79\u5272:<\/strong> \u80ce\u5150\u304c\u304a\u6bcd\u3055\u3093\u306e\u304a\u8179\u306e\u4e2d\u3067\u80b2\u3064\u3068\u304d\u3001\u3042\u308b\u7d30\u80de\u304c\u96a3\u306e\u7d30\u80de\u306b\u300c\u3042\u306a\u305f\u306f\u809d\u81d3\u306e\u7ba1\u306b\u306a\u308a\u306a\u3055\u3044\u300d\u300c\u3042\u306a\u305f\u306f\u8840\u7ba1\u306b\u306a\u308a\u306a\u3055\u3044\u300d\u3068\u6307\u4ee4\u3092\u51fa\u3059\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<em>JAG1<\/em>\u306f\u3001\u3053\u306e\u6307\u4ee4\u3092\u4f1d\u3048\u308b\u300c\u624b\u7d19\uff08\u30ea\u30ac\u30f3\u30c9\uff09\u300d\u306e\u3088\u3046\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>1\u578b\uff08ALGS1\uff09:<\/strong> \u624b\u7d19\uff08JAG1\uff09\u304c\u51fa\u305b\u306a\u3044\u305f\u3081\u3001\u6307\u4ee4\u304c\u5c4a\u304b\u306a\u3044\u72b6\u614b\u3067\u3059\u3002<\/li>\n\n\n\n<li>2\u578b\uff08ALGS2\uff09: \u624b\u7d19\u3092\u53d7\u3051\u53d6\u308b\u30dd\u30b9\u30c8\uff08NOTCH2\u53d7\u5bb9\u4f53\uff09\u304c\u58ca\u308c\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002<br>\u7d50\u679c\u3068\u3057\u3066\u3001\u3069\u3061\u3089\u3082\u300c\u7ba1\uff08\u304f\u3060\uff09\u300d\u3092\u4f5c\u308b\u6307\u4ee4\u304c\u3046\u307e\u304f\u4f1d\u308f\u3089\u305a\u3001\u5168\u8eab\u306e\u69d8\u3005\u306a\u81d3\u5668\uff08\u809d\u81d3\u306e\u80c6\u7ba1\u3001\u5fc3\u81d3\u306e\u8840\u7ba1\u306a\u3069\uff09\u306e\u5f62\u6210\u4e0d\u5168\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>30,000\u4eba \u301c 70,000\u4eba\u306b1\u4eba<\/strong><\/p>\n\n\n\n<p>\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u56fd\u3084\u5730\u57df\u306b\u3088\u3063\u3066\u5831\u544a\u306b\u5dee\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u304a\u3088\u305d\u51fa\u751f3\u4e07\u301c7\u4e07\u4eba\u306b1\u4eba\u7a0b\u5ea6\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u308c\u306f\u300c\u5178\u578b\u7684\u306a\u75c7\u72b6\u3092\u6301\u3064\u60a3\u8005\u3055\u3093\u300d\u306e\u6570\u3067\u3042\u308a\u3001\u75c7\u72b6\u304c\u8efd\u5fae\uff08\u4f8b\u3048\u3070\u3001\u8efd\u3044\u5fc3\u96d1\u97f3\u3060\u3051\u3001\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u3060\u3051\uff09\u3067\u8a3a\u65ad\u306b\u81f3\u3063\u3066\u3044\u306a\u3044\u6f5c\u5728\u7684\u306a\u60a3\u8005\u3055\u3093\u3092\u542b\u3081\u308b\u3068\u3001\u5b9f\u969b\u306e\u983b\u5ea6\u306f\u3082\u3063\u3068\u9ad8\u3044\u306e\u3067\u306f\u306a\u3044\u304b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6027\u5225\u306b\u3088\u308b\u767a\u751f\u983b\u5ea6\u306e\u5dee\u306f\u306a\u304f\u3001\u7537\u5150\u306b\u3082\u5973\u5150\u306b\u3082\u767a\u751f\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\uff08\u512a\u6027\u907a\u4f1d\uff09\u306e\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u304c\u3001\u60a3\u8005\u3055\u3093\u306e\u7d0450\u301c70%\u306f\u3001\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u306a\u304f\u3001\u7a81\u7136\u5909\u7570\uff08De novo\uff09\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/strong><\/h2>\n\n\n\n<p>Alagille syndrome 1\u306e\u75c7\u72b6\u306f\u3001**\u300c\u809d\u81d3\u300d\u300c\u5fc3\u81d3\u300d\u300c\u9854\u8c8c\u300d\u300c\u773c\u300d\u300c\u9aa8\u683c\u300d\u306e5\u5927\u5fb4\u5019\u304c\u6709\u540d\u3067\u3059\u304c\u3001\u3053\u308c\u306b\u300c\u814e\u81d3\u300d\u3084\u300c\u8840\u7ba1\u300d\u306e\u7570\u5e38\u3092\u52a0\u3048\u305f7\u3064\u306e\u30b7\u30b9\u30c6\u30e0\u304c\u4e3b\u306a\u5f71\u97ff\u7bc4\u56f2\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6700\u5927\u306e\u7279\u5fb4\u306f\u3001\u300c\u8868\u73fe\u578b\u306e\u591a\u69d8\u6027\uff08Variable Expressivity\uff09\u300d**\u3067\u3059\u3002\u540c\u3058\u907a\u4f1d\u5b50\u5909\u7570\u3092\u6301\u3064\u304d\u3087\u3046\u3060\u3044\u3067\u3082\u3001\u5144\u306f\u91cd\u3044\u809d\u81d3\u75c5\u3001\u5f1f\u306f\u8efd\u3044\u5fc3\u96d1\u97f3\u306e\u307f\u3001\u3068\u3044\u3063\u305f\u3053\u3068\u304c\u983b\u7e41\u306b\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u809d\u81d3\u306e\u75c7\u72b6\uff08Liver\uff09\uff1a\u80c6\u7ba1\u6e1b\u5c11\u3068\u80c6\u6c41\u3046\u3063\u6ede<\/strong><\/p>\n\n\n\n<p>\u60a3\u8005\u3055\u3093\u306e\u7d0490\u301c95%\u306b\u898b\u3089\u308c\u308b\u3001\u6700\u3082\u751f\u6d3b\u3078\u306e\u5f71\u97ff\u304c\u5927\u304d\u3044\u75c7\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u80c6\u7ba1\u6e1b\u5c11\uff08Bile duct paucity\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u809d\u81d3\u306e\u4e2d\u3067\u4f5c\u3089\u308c\u305f\u6d88\u5316\u6db2\uff08\u80c6\u6c41\uff09\u3092\u6d41\u3059\u300c\u809d\u5185\u80c6\u7ba1\u300d\u306e\u6570\u304c\u3001\u751f\u307e\u308c\u3064\u304d\u5c11\u306a\u3044\u72b6\u614b\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u80c6\u6c41\u3046\u3063\u6ede\uff08Cholestasis\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u51fa\u53e3\u304c\u5c11\u306a\u3044\u305f\u3081\u3001\u80c6\u6c41\u304c\u809d\u81d3\u306e\u4e2d\u306b\u6e9c\u307e\u3063\u3066\u3057\u307e\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9ec4\u75b8:<\/strong> \u751f\u5f8c\u307e\u3082\u306a\u304f\u304b\u3089\u3001\u767d\u76ee\u3084\u76ae\u819a\u304c\u9ec4\u8272\u304f\u306a\u308b\u9077\u5ef6\u6027\u9ec4\u75b8\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u4fbf\u304c\u767d\u3063\u307d\u304f\u306a\u308b\uff08\u767d\u8272\u4fbf\uff09\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u305d\u3046\u75d2\u611f\uff08\u304b\u3086\u307f\uff09:<\/strong> \u80c6\u6c41\u9178\u304c\u8840\u6db2\u4e2d\u306b\u6ea2\u308c\u51fa\u3059\u3053\u3068\u3067\u3001**\u300c\u6fc0\u3057\u3044\u304b\u3086\u307f\u300d**\u304c\u751f\u3058\u307e\u3059\u3002\u3053\u308c\u306f\u60a3\u8005\u3055\u3093\u306eQOL\uff08\u751f\u6d3b\u306e\u8cea\uff09\u3092\u8457\u3057\u304f\u4e0b\u3052\u308b\u6700\u5927\u306e\u8981\u56e0\u306e\u4e00\u3064\u3067\u3042\u308a\u3001\u591c\u7720\u308c\u306a\u3044\u3001\u96c6\u4e2d\u3067\u304d\u306a\u3044\u3068\u3044\u3063\u305f\u554f\u984c\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9ec4\u8272\u816b\uff08Xanthoma\uff09\uff1a<\/strong> \u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u306e\u4ee3\u8b1d\u7570\u5e38\u306b\u3088\u308a\u3001\u76ae\u819a\uff08\u7279\u306b\u95a2\u7bc0\u3084\u624b\u306e\u3072\u3089\uff09\u306b\u9ec4\u8272\u3044\u8102\u80aa\u306e\u584a\u304c\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9032\u884c:<\/strong> \u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u3067\u5e7c\u5150\u671f\u4ee5\u964d\u306b\u809d\u6a5f\u80fd\u306f\u6539\u5584\u50be\u5411\u3092\u793a\u3057\u307e\u3059\u304c\u3001\u7d0415\u301c20%\u306e\u60a3\u8005\u3055\u3093\u3067\u306f\u809d\u786c\u5909\u3078\u3068\u9032\u884c\u3057\u3001\u809d\u79fb\u690d\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5fc3\u81d3\u30fb\u8840\u7ba1\u306e\u75c7\u72b6\uff08Heart &amp; Vascular\uff09<\/strong><\/p>\n\n\n\n<p>\u60a3\u8005\u3055\u3093\u306e\u7d0490%\u4ee5\u4e0a\u306b\u4f55\u3089\u304b\u306e\u5fc3\u8840\u7ba1\u7570\u5e38\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u672b\u68a2\u6027\u80ba\u52d5\u8108\u72ed\u7a84\u75c7\uff08Peripheral Pulmonary Stenosis; PPS\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6700\u3082\u4e00\u822c\u7684\u306a\u6240\u898b\u3067\u3059\u3002\u5fc3\u81d3\u304b\u3089\u80ba\u3078\u8840\u6db2\u3092\u9001\u308b\u8840\u7ba1\u306e\u3001\u679d\u5206\u304b\u308c\u3057\u305f\u5148\u306e\u90e8\u5206\u304c\u72ed\u304f\u306a\u3063\u3066\u3044\u307e\u3059\u3002\u8efd\u5ea6\u3067\u3042\u308c\u3070\u6cbb\u7642\u306e\u5fc5\u8981\u306f\u306a\u304f\u3001\u81ea\u7136\u7d4c\u904e\u89b3\u5bdf\u306e\u307f\u3067\u6e08\u3080\u3053\u3068\u3082\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7\uff08Tetralogy of Fallot\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u91cd\u7be4\u306a\u5fc3\u75be\u60a3\u3068\u3057\u3066\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff08\u7d0410%\uff09\u3002\u3053\u306e\u5834\u5408\u306f\u624b\u8853\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u5fc3\u75be\u60a3:<\/strong> \u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\u3001\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\u306a\u3069\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Facies\uff09<\/strong><\/p>\n\n\n\n<p>\u300c\u30a2\u30e9\u30b8\u30fc\u30eb\u69d8\u9854\u8c8c\u300d\u3068\u547c\u3070\u308c\u308b\u72ec\u7279\u306e\u611b\u3089\u3057\u3044\u304a\u9854\u7acb\u3061\u3092\u3057\u3066\u3044\u307e\u3059\u3002\u6210\u9577\u3068\u3068\u3082\u306b\u7279\u5fb4\u304c\u306f\u3063\u304d\u308a\u3057\u3066\u304f\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9006\u4e09\u89d2\u5f62\u306e\u9854:<\/strong> \u984d\u304c\u5e83\u304f\u3001\u3042\u3054\u304c\u5c0f\u3055\u304f\u5c16\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u773c\u306e\u7279\u5fb4:<\/strong> \u773c\u304c\u6df1\u304f\u304f\u307c\u3093\u3067\u3044\u308b\uff08Deep-set eyes\uff09\u3001\u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u3002<\/li>\n\n\n\n<li><strong>\u9f3b:<\/strong> \u9f3b\u7b4b\u304c\u901a\u3063\u3066\u304a\u308a\u3001\u9f3b\u5148\u304c\u5c11\u3057\u4e0a\u3092\u5411\u3044\u3066\u3044\u308b\u3001\u307e\u305f\u306f\u7403\u72b6\u3002<\/li>\n\n\n\n<li><strong>\u8033:<\/strong> \u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u3001\u8033\u305f\u3076\u304c\u5c0f\u3055\u3044\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u9aa8\u683c\u306e\u75c7\u72b6\uff08Skeleton\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8776\u5f62\u690e\uff08Butterfly vertebrae\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u80cc\u9aa8\uff08\u690e\u9aa8\uff09\u306e\u5f62\u304c\u3001\u30ec\u30f3\u30c8\u30b2\u30f3\u3067\u898b\u308b\u3068\u8776\u3005\u304c\u7fbd\u3092\u5e83\u3052\u305f\u3088\u3046\u306a\u5f62\u306b\u898b\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u60a3\u8005\u3055\u3093\u306e\u7d0430\u301c80%\u306b\u898b\u3089\u308c\u307e\u3059\u304c\u3001\u3053\u308c\u81ea\u4f53\u304c\u75db\u307f\u3084\u795e\u7d4c\u75c7\u72b6\u3092\u8d77\u3053\u3059\u3053\u3068\u306f\u7a00\u3067\u3001\u901a\u5e38\u306f\u6cbb\u7642\u306e\u5fc5\u8981\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u8a3a\u65ad\u306e\u91cd\u8981\u306a\u624b\u304c\u304b\u308a\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u773c\u306e\u75c7\u72b6\uff08Eye\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5f8c\u90e8\u80ce\u751f\u74b0\uff08Posterior embryotoxon\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9ed2\u76ee\uff08\u89d2\u819c\uff09\u306e\u7e01\u306e\u5185\u5074\u306b\u3001\u767d\u3044\u30ea\u30f3\u30b0\u72b6\u306e\u7dda\u304c\u898b\u3048\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8996\u529b\u306b\u306f\u5f71\u97ff\u3057\u307e\u305b\u3093\u304c\u3001\u773c\u79d1\u306e\u7d30\u9699\u706f\u691c\u67fb\u3067\u898b\u3064\u304b\u308b\u8a3a\u65ad\u7684\u306a\u7279\u5fb4\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u305d\u306e\u4ed6\u3001\u8996\u795e\u7d4c\u4e73\u982d\u306e\u7570\u5e38\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>6. \u814e\u81d3\u306e\u75c7\u72b6\uff08Kidney\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u814e\u7570\u5f62\u6210\u3001\u814e\u56a2\u80de\u3001\u814e\u5c3f\u7d30\u7ba1\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u306a\u3069\u304c\u7d0440%\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>7. \u4e2d\u67a2\u795e\u7d4c\u30fb\u8840\u7ba1\u7cfb\u306e\u75c7\u72b6\uff08Vascular\/CNS\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u982d\u84cb\u5185\u51fa\u8840:<\/strong> \u30a2\u30e9\u30b8\u30fc\u30eb\u75c7\u5019\u7fa4\u306e\u4e88\u5f8c\u3092\u5de6\u53f3\u3059\u308b\u91cd\u8981\u306a\u5408\u4f75\u75c7\u3068\u3057\u3066\u3001\u8133\u8840\u7ba1\u306e\u7570\u5e38\uff08\u3082\u3084\u3082\u3084\u75c5\u69d8\u8840\u7ba1\u3084\u52d5\u8108\u7624\uff09\u306b\u3088\u308b\u982d\u84cb\u5185\u51fa\u8840\u306e\u30ea\u30b9\u30af\u304c\u3042\u308a\u307e\u3059\uff08\u7d0414%\u3068\u3044\u3046\u5831\u544a\u3082\u3042\u308a\u307e\u3059\uff09\u3002<\/li>\n\n\n\n<li>\u8efd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306f\u6b63\u5e38\u77e5\u80fd\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>8. \u6210\u9577\u969c\u5bb3<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u80c6\u6c41\u304c\u51fa\u306a\u3044\u3053\u3068\u3067\u300c\u8102\u8cea\u300d\u3084\u300c\u8102\u6eb6\u6027\u30d3\u30bf\u30df\u30f3\u300d\u306e\u5438\u53ce\u304c\u60aa\u304f\u306a\u308a\u3001\u6804\u990a\u4e0d\u826f\u306b\u3088\u308b\u6210\u9577\u969c\u5bb3\uff08\u4f4e\u8eab\u9577\u30fb\u4f4e\u4f53\u91cd\uff09\u3092\u6765\u3059\u3053\u3068\u304c\u3088\u304f\u3042\u308a\u307e\u3059\u3002\u9aa8\u6298\u3057\u3084\u3059\u304f\u306a\u308b\uff08\u30d3\u30bf\u30df\u30f3D\u4e0d\u8db3\uff09\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>JAG1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u307e\u305f\u306f\u6b20\u5931<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. JAG1\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><em>JAG1<\/em>\u907a\u4f1d\u5b50\u306f\u3001Notch\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u306e\u30ea\u30ac\u30f3\u30c9\uff08\u6307\u4ee4\u5f79\uff09\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u901a\u5e38\u3001\u4eba\u306f2\u672c\u306e\u67d3\u8272\u4f53\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u304c\u3001\u305d\u306e\u3046\u3061\u306e1\u672c\u306e<em>JAG1<\/em>\u907a\u4f1d\u5b50\u306b\u7570\u5e38\u304c\u3042\u308b\uff08\u307e\u305f\u306f\u6b20\u5931\u3057\u3066\u3044\u308b\uff09\u3068\u3001\u4f5c\u3089\u308c\u308bJAG1\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u91cf\u304c\u534a\u5206\u306b\u306a\u3063\u3066\u3057\u307e\u3044\u307e\u3059\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u3002<\/li>\n\n\n\n<li>\u809d\u81d3\u306e\u80c6\u7ba1\u3084\u5fc3\u81d3\u306e\u8840\u7ba1\u3092\u4f5c\u308b\u306b\u306f\u3001\u53b3\u5bc6\u306a\u91cf\u306eJAG1\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u5fc5\u8981\u3067\u3042\u308b\u305f\u3081\u3001\u91cf\u304c\u534a\u5206\u306b\u306a\u308b\u3060\u3051\u3067\u6b63\u5e38\u306a\u69cb\u9020\u304c\u4f5c\u308c\u306a\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u907a\u4f1d\u5b50\u578b\u3068\u8868\u73fe\u578b\u306e\u95a2\u9023\uff08Genotype-Phenotype Correlation\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8208\u5473\u6df1\u3044\u3053\u3068\u306b\u3001\u300c\u907a\u4f1d\u5b50\u304c\u5b8c\u5168\u306b\u6b20\u5931\u3057\u3066\u3044\u308b\u4eba\u300d\u3068\u300c\u907a\u4f1d\u5b50\u306e\u4e00\u90e8\u3060\u3051\u5909\u7570\u3057\u3066\u3044\u308b\u4eba\u300d\u306e\u9593\u3067\u3001\u75c7\u72b6\u306e\u91cd\u3055\u306b\u660e\u78ba\u306a\u5dee\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u307e\u305f\u3001\u540c\u3058\u5909\u7570\u3092\u6301\u3064\u5bb6\u65cf\u5185\u3067\u3082\u75c7\u72b6\u304c\u30d0\u30e9\u30d0\u30e9\u3067\u3042\u308b\u3053\u3068\u304b\u3089\u3001<em>JAG1<\/em>\u4ee5\u5916\u306e\u4ed6\u306e\u907a\u4f1d\u5b50\uff08\u4fee\u98fe\u907a\u4f1d\u5b50\uff09\u3084\u74b0\u5883\u8981\u56e0\u304c\u3001\u75c7\u72b6\u306e\u91cd\u3055\u3092\u6c7a\u3081\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u81e8\u5e8a\u7684\u306a\u8a3a\u65ad\u57fa\u6e96\u3068\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u81e8\u5e8a\u8a3a\u65ad:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u809d\u751f\u691c\u3067\u306e\u300c\u80c6\u7ba1\u6e1b\u5c11\u300d\u306b\u52a0\u3048\u3066\u3001\u4e3b\u89815\u5fb4\u5019\uff08\u80c6\u6c41\u3046\u3063\u6ede\u3001\u5fc3\u75be\u60a3\u3001\u9aa8\u683c\u7570\u5e38\u3001\u773c\u7570\u5e38\u3001\u7279\u5fb4\u7684\u9854\u8c8c\uff09\u306e\u3046\u30613\u3064\u4ee5\u4e0a\u304c\u8a8d\u3081\u3089\u308c\u308c\u3070\u8a3a\u65ad\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u30b7\u30fc\u30af\u30a8\u30f3\u30b9\u89e3\u6790:<\/strong> <em>JAG1<\/em>\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u8abf\u3079\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb \/ FISH\u6cd5:<\/strong> <em>JAG1<\/em>\u3092\u542b\u308020p12\u9818\u57df\u306e\u6b20\u5931\uff08\u5fae\u7d30\u6b20\u5931\uff09\u3092\u8abf\u3079\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u907a\u4f1d\u5b50\u5909\u7570\u304c\u898b\u3064\u304b\u308c\u3070\u3001\u75c7\u72b6\u304c\u63c3\u3063\u3066\u3044\u306a\u304f\u3066\u3082\u78ba\u5b9a\u8a3a\u65ad\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u753b\u50cf\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8179\u90e8\u30a8\u30b3\u30fc\u3001\u5fc3\u30a8\u30b3\u30fc\u3001\u810a\u690e\u30ec\u30f3\u30c8\u30b2\u30f3\u3001\u982d\u90e8MRI\/MRA\uff08\u8840\u7ba1\u75c5\u5909\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\uff09\u306a\u3069\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u773c\u79d1\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5f8c\u90e8\u80ce\u751f\u74b0\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u6839\u672c\u7684\u306a\u907a\u4f1d\u5b50\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u75c7\u72b6\u3092\u548c\u3089\u3052\u3001\u5408\u4f75\u75c7\u3092\u9632\u3050\u5bfe\u75c7\u7642\u6cd5\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002\u7279\u306b\u300c\u809d\u81d3\u300d\u3068\u300c\u5fc3\u81d3\u300d\u306e\u7ba1\u7406\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u809d\u81d3\u30fb\u6804\u990a\u306e\u7ba1\u7406<\/strong><\/p>\n\n\n\n<p><strong>\u6700\u3082\u65e5\u5e38\u7684\u306a\u30b1\u30a2\u304c\u5fc5\u8981\u306a\u90e8\u5206\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u80c6\u6c41\u306e\u6d41\u308c\u3092\u826f\u304f\u3059\u308b:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u30a6\u30eb\u30bd\u30c7\u30aa\u30ad\u30b7\u30b3\u30fc\u30eb\u9178\uff08UDCA\uff09:<\/strong> \u80c6\u6c41\u306e\u6d41\u308c\u3092\u4fc3\u9032\u3057\u3001\u809d\u6a5f\u80fd\u3092\u4fdd\u8b77\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u304b\u3086\u307f\uff08\u305d\u3046\u75d2\uff09\u5bfe\u7b56:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3053\u308c\u304c\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002\u304b\u3086\u307f\u306f\u7761\u7720\u969c\u5bb3\u3084\u5b66\u7fd2\u969c\u5bb3\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6297\u30d2\u30b9\u30bf\u30df\u30f3\u85ac\u3001\u30ea\u30d5\u30a1\u30f3\u30d4\u30b7\u30f3\u3001\u30ca\u30eb\u30c8\u30ec\u30ad\u30bd\u30f3\u306a\u3069\u304c\u4f7f\u308f\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u65b0\u85ac\uff08IBAT\u963b\u5bb3\u85ac\uff09\uff1a<\/strong> \u8fd1\u5e74\u3001**\u30de\u30e9\u30ea\u30ad\u30b7\u30d0\u30c3\u30c8\uff08Maralixibat\uff09**\u306a\u3069\u306e\u300c\u80c6\u6c41\u9178\u30c8\u30e9\u30f3\u30b9\u30dd\u30fc\u30bf\u30fc\u963b\u5bb3\u85ac\u300d\u304c\u767b\u5834\u3057\u307e\u3057\u305f\u3002\u8178\u304b\u3089\u306e\u80c6\u6c41\u9178\u306e\u518d\u5438\u53ce\u3092\u30d6\u30ed\u30c3\u30af\u3057\u3066\u4f53\u5916\u3078\u6392\u51fa\u3055\u305b\u308b\u3053\u3068\u3067\u3001\u8840\u4e2d\u306e\u80c6\u6c41\u9178\u3092\u6e1b\u3089\u3057\u3001\u5287\u7684\u306b\u304b\u3086\u307f\u3092\u6539\u5584\u3059\u308b\u52b9\u679c\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\uff08\u56fd\u3084\u5730\u57df\u306b\u3088\u308a\u627f\u8a8d\u72b6\u6cc1\u304c\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u65e5\u672c\u3067\u3082\u958b\u767a\u30fb\u627f\u8a8d\u304c\u9032\u3093\u3067\u3044\u307e\u3059\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30d3\u30bf\u30df\u30f3\u88dc\u5145:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8102\u6eb6\u6027\u30d3\u30bf\u30df\u30f3\uff08A, D, E, K\uff09\u304c\u5438\u53ce\u3055\u308c\u306b\u304f\u3044\u305f\u3081\u3001\u7279\u6b8a\u306a\u30b5\u30d7\u30ea\u30e1\u30f3\u30c8\u3067\u5927\u91cf\u306b\u88dc\u5145\u3057\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u304f\u308b\u75c5\uff08\u9aa8\u306e\u5909\u5f62\uff09\u3084\u51fa\u8840\u50be\u5411\u3001\u795e\u7d4c\u969c\u5bb3\u3092\u9632\u304e\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6804\u990a\u7642\u6cd5:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8102\u80aa\u306e\u5438\u53ce\u304c\u60aa\u3044\u305f\u3081\u3001\u5438\u53ce\u3055\u308c\u3084\u3059\u3044**MCT\u30aa\u30a4\u30eb\uff08\u4e2d\u9396\u8102\u80aa\u9178\uff09**\u3092\u542b\u3093\u3060\u30df\u30eb\u30af\u3084\u98df\u4e8b\u3092\u4f7f\u7528\u3057\u3001\u30ab\u30ed\u30ea\u30fc\u3092\u78ba\u4fdd\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5916\u79d1\u7684\u6cbb\u7642\uff08\u809d\u81d3\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u90e8\u5206\u7684\u80c6\u6c41\u5916\u763b\u8853\uff08PBDE\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u80c6\u6c41\u306e\u4e00\u90e8\u3092\u4f53\u306e\u5916\uff08\u30b9\u30c8\u30fc\u30de\uff09\u306b\u51fa\u3059\u624b\u8853\u3067\u3059\u3002\u304b\u3086\u307f\u304c\u3072\u3069\u304f\u3001\u85ac\u304c\u52b9\u304b\u306a\u3044\u5834\u5408\u306b\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3057\u305f\u304c\u3001\u65b0\u85ac\u306e\u767b\u5834\u306b\u3088\u308a\u983b\u5ea6\u306f\u6e1b\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u809d\u79fb\u690d:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u809d\u786c\u5909\u306b\u9032\u884c\u3057\u305f\u5834\u5408\u3001\u307e\u305f\u306f\u85ac\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3067\u304d\u306a\u3044\u8010\u3048\u96e3\u3044\u304b\u3086\u307f\u3084\u9aa8\u6298\u3001\u6210\u9577\u969c\u5bb3\u304c\u3042\u308b\u5834\u5408\u3001\u809d\u79fb\u690d\u304c\u884c\u308f\u308c\u307e\u3059\u3002\u79fb\u690d\u5f8c\u306e\u4e88\u5f8c\u306f\u826f\u597d\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u203b\u80c6\u9053\u9589\u9396\u75c7\u3068\u7570\u306a\u308a\u3001\u845b\u897f\u624b\u8853\uff08\u809d\u9580\u90e8\u7a7a\u8178\u543b\u5408\u8853\uff09\u306f<strong>\u539f\u5247\u3068\u3057\u3066\u884c\u3044\u307e\u305b\u3093<\/strong>\uff08\u304b\u3048\u3063\u3066\u809d\u81d3\u3092\u60aa\u304f\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\uff09\u3002\u4e73\u5150\u671f\u306e\u9451\u5225\u8a3a\u65ad\u304c\u6975\u3081\u3066\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5fc3\u81d3\u30fb\u8840\u7ba1\u306e\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u75be\u60a3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8efd\u5ea6\u306e\u80ba\u52d5\u8108\u72ed\u7a84\u3067\u3042\u308c\u3070\u7d4c\u904e\u89b3\u5bdf\u3067\u3059\u3002\u91cd\u5ea6\u306e\u5834\u5408\u3084\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7\u306e\u5834\u5408\u306f\u3001\u30ab\u30c6\u30fc\u30c6\u30eb\u6cbb\u7642\uff08\u30d0\u30eb\u30fc\u30f3\u62e1\u5f35\uff09\u3084\u5916\u79d1\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8133\u8840\u7ba1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3082\u3084\u3082\u3084\u75c5\u306a\u3069\u306e\u30ea\u30b9\u30af\u304c\u3042\u308b\u305f\u3081\u3001\u5b9a\u671f\u7684\u306aMRI\/MRA\u691c\u67fb\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u814e\u81d3\u306e\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5b9a\u671f\u7684\u306a\u5c3f\u691c\u67fb\u3001\u8840\u6db2\u691c\u67fb\u3001\u8840\u5727\u6e2c\u5b9a\u3092\u884c\u3044\u3001\u814e\u6a5f\u80fd\u3092\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5bb6\u65cf\u3078\u306e\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u304c\u672a\u8a3a\u65ad\u306e\u8efd\u75c7\u60a3\u8005\uff08\u4fdd\u56e0\u8005\uff09\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u4e21\u89aa\u306e\u691c\u67fb\u3084\u8a3a\u5bdf\uff08\u5fc3\u96d1\u97f3\u306e\u8074\u53d6\u3001\u773c\u79d1\u691c\u67fb\u306a\u3069\uff09\u3092\u884c\u3044\u3001\u6b21\u5b50\u518d\u767a\u30ea\u30b9\u30af\uff0850%\u304b\u3001\u7a81\u7136\u5909\u7570\u304b\uff09\u3092\u8a55\u4fa1\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6210\u4eba\u671f\u306b\u9054\u3059\u308b\u60a3\u8005\u3055\u3093\u3082\u591a\u3044\u305f\u3081\u3001\u5c31\u52b4\u3084\u7d50\u5a5a\u3001\u598a\u5a20\u51fa\u7523\u306b\u95a2\u3059\u308b\u76f8\u8ac7\uff08\u79fb\u884c\u671f\u533b\u7642\uff09\u3082\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>Alagille syndrome 1\uff08ALGS1\uff09\u306f\u300120\u756a\u67d3\u8272\u4f53\u306eJAG1\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u308a\u3001\u80c6\u7ba1\u3084\u8840\u7ba1\u304c\u3046\u307e\u304f\u4f5c\u3089\u308c\u306a\u304f\u306a\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u300c\u9ec4\u75b8\u300d\u3084\u300c\u5fc3\u96d1\u97f3\u300d\u3067\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u6700\u5927\u306e\u7279\u5fb4\u306f\u300c\u4eba\u306b\u3088\u3063\u3066\u75c7\u72b6\u304c\u5168\u304f\u9055\u3046\u300d\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002\u91cd\u3044\u809d\u81d3\u75c5\u3067\u79fb\u690d\u304c\u5fc5\u8981\u306b\u306a\u308b\u304a\u5b50\u3055\u3093\u3082\u3044\u308c\u3070\u3001\u5927\u4eba\u306b\u306a\u308b\u307e\u3067\u6c17\u3065\u304b\u306a\u3044\u307b\u3069\u8efd\u3044\u75c7\u72b6\u306e\u65b9\u3082\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3001\u9577\u5f15\u304f\u9ec4\u75b8\u3084\u3001\u591c\u3082\u7720\u308c\u306a\u3044\u307b\u3069\u306e\u300c\u304b\u3086\u307f\u300d\u306f\u3001\u898b\u3066\u3044\u3066\u672c\u5f53\u306b\u8f9b\u3044\u3082\u306e\u3060\u3068\u601d\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u8fd1\u5e74\u3001\u3053\u306e\u300c\u304b\u3086\u307f\u300d\u306b\u5bfe\u3059\u308b\u753b\u671f\u7684\u306a\u65b0\u85ac\u304c\u767b\u5834\u3057\u3001\u6cbb\u7642\u306e\u9078\u629e\u80a2\u306f\u5927\u304d\u304f\u5e83\u304c\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u6804\u990a\u7ba1\u7406\uff08\u7279\u6b8a\u30df\u30eb\u30af\u3084\u30d3\u30bf\u30df\u30f3\u5264\uff09\u3092\u3057\u3063\u304b\u308a\u884c\u3046\u3053\u3068\u3067\u3001\u9aa8\u3092\u4e08\u592b\u306b\u3057\u3001\u6210\u9577\u3092\u4fc3\u3059\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5fc3\u81d3\u306e\u75c5\u6c17\u3084\u3001\u8133\u306e\u8840\u7ba1\u306e\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u3082\u3001\u5b9a\u671f\u7684\u306a\u30c1\u30a7\u30c3\u30af\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u65e9\u671f\u306b\u5bfe\u51e6\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5927\u5207\u306a\u306e\u306f\u3001\u3053\u306e\u75c5\u6c17\u304c\u300c\u5168\u8eab\u306e\u75c5\u6c17\u300d\u3067\u3042\u308b\u3053\u3068\u3092\u7406\u89e3\u3057\u3001\u5c0f\u5150\u79d1\uff08\u6d88\u5316\u5668\u30fb\u5faa\u74b0\u5668\uff09\u3001\u773c\u79d1\u3001\u814e\u81d3\u5185\u79d1\u3001\u79fb\u690d\u5916\u79d1\u306a\u3069\u3001\u8907\u6570\u306e\u5c02\u9580\u5bb6\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u3093\u3067\u9577\u671f\u7684\u306b\u4ed8\u304d\u5408\u3063\u3066\u3044\u304f\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u809d\u79fb\u690d\u3092\u53d7\u3051\u305f\u304a\u5b50\u3055\u3093\u3082\u542b\u3081\u3001\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u304c\u5b66\u6821\u306b\u901a\u3044\u3001\u793e\u4f1a\u3067\u6d3b\u8e8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u30a2\u30e9\u30b8\u30fc\u30eb\u69d8\u9854\u8c8c\u300d\u3068\u547c\u3070\u308c\u308b\u305d\u306e\u611b\u3089\u3057\u3044\u304a\u9854\u306f\u3001\u591a\u304f\u306e\u533b\u7642\u8005\u306b\u3068\u3063\u3066\u3001\u56f0\u96e3\u306b\u7acb\u3061\u5411\u304b\u3046\u5f37\u3055\u3068\u660e\u308b\u3055\u306e\u8c61\u5fb4\u3067\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7126\u3089\u305a\u3001\u4e00\u3064\u3072\u3068\u3064\u306e\u75c7\u72b6\u306b\u5bfe\u3057\u3066\u3001\u5c02\u9580\u533b\u3084\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u76f8\u8ac7\u3057\u306a\u304c\u3089\u3001\u304a\u5b50\u3055\u3093\u306e\u5065\u3084\u304b\u306a\u6210\u9577\u3092\u652f\u3048\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Alagille, D., et al.<\/strong> (1987). <em>Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u30a2\u30e9\u30b8\u30fc\u30eb\u75c7\u5019\u7fa4\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\uff085\u5927\u5fb4\u5019\uff09\u3092\u78ba\u7acb\u3057\u3001\u75be\u60a3\u6982\u5ff5\u3092\u5b9a\u7fa9\u3057\u305f\u6b74\u53f2\u7684\u304b\u3064\u6700\u3082\u91cd\u8981\u306a\u539f\u8457\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Li, L., et al.<\/strong> (1997). <em>Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1.<\/em> Nature Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203bJAG1\u907a\u4f1d\u5b50\u304c\u30a2\u30e9\u30b8\u30fc\u30eb\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u767a\u898b\u3057\u3001Notch\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u3068\u30d2\u30c8\u75be\u60a3\u306e\u95a2\u9023\u3092\u521d\u3081\u3066\u8a3c\u660e\u3057\u305f\u753b\u671f\u7684\u306a\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Kamath, B.M., et al.<\/strong> (2010). <em>Consequences of JAG1 mutations.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u6570\u767e\u4f8b\u898f\u6a21\u306e\u60a3\u8005\u30c7\u30fc\u30bf\u3092\u89e3\u6790\u3057\u3001JAG1\u5909\u7570\u3068\u81e8\u5e8a\u75c7\u72b6\u306e\u76f8\u95a2\u3001\u304a\u3088\u3073\u982d\u84cb\u5185\u51fa\u8840\u306a\u3069\u306e\u91cd\u7be4\u306a\u5408\u4f75\u75c7\u306e\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u5831\u544a\u3057\u305f\u5927\u898f\u6a21\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Turnpenny, P.D., et al.<\/strong> (2007). <em>Alagille syndrome: pathogenesis, diagnosis and management.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u8a3a\u65ad\u304b\u3089\u6cbb\u7642\u3001\u9577\u671f\u4e88\u5f8c\u307e\u3067\u3092\u7db2\u7f85\u3057\u305f\u5305\u62ec\u7684\u306a\u30ec\u30d3\u30e5\u30fc\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>Alagille Syndrome<\/em>. Initial Posting: 2000; Last Update: 2019. <em>Authors: Kamath BM, et al.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u8a3a\u65ad\u57fa\u6e96\u3001\u6700\u65b0\u306e\u7ba1\u7406\u6307\u91dd\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u60c5\u5831\u3092\u7db2\u7f85\u3057\u305f\u3001\u81e8\u5e8a\u73fe\u5834\u3067\u6700\u3082\u4fe1\u983c\u3055\u308c\u308b\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Gonzales, E., et al.<\/strong> (2021). <em>Maralixibat treatment for Alagille syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u65b0\u85ac\u30de\u30e9\u30ea\u30ad\u30b7\u30d0\u30c3\u30c8\u306e\u6cbb\u9a13\u7d50\u679c\u3092\u5831\u544a\u3057\u3001\u305d\u3046\u75d2\u611f\u306e\u6539\u5584\u52b9\u679c\u3092\u793a\u3057\u305f\u3001\u6700\u65b0\u306e\u6cbb\u7642\u306b\u95a2\u3059\u308b\u91cd\u8981\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\uff08Japan Intractable Diseases Information Center\uff09<\/strong>: <em>\u30a2\u30e9\u30b8\u30fc\u30eb\u75c7\u5019\u7fa4\uff08\u6307\u5b9a\u96e3\u75c5\uff12\uff19\uff18\uff09<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u65e5\u672c\u306e\u516c\u8cbb\u52a9\u6210\u5bfe\u8c61\u75be\u60a3\u3068\u3057\u3066\u306e\u5b9a\u7fa9\u3084\u3001\u56fd\u5185\u306e\u8a3a\u7642\u72b6\u6cc1\u306b\u95a2\u3059\u308b\u60c5\u5831\u6e90\u3002)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem !important;\n}\n<\/style>\n<p>\u8a73\u3057\u304f\u306f <a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/clinic\/\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u5168\u56fd\u306e\u30af\u30ea\u30cb\u30c3\u30af\u4e00\u89a7<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>","protected":false},"featured_media":0,"template":"","class_list":["post-17220","genetic-screening","type-genetic-screening","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17220","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/types\/genetic-screening"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17220\/revisions"}],"predecessor-version":[{"id":17222,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17220\/revisions\/17222"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17220"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}