{"id":136645,"date":"2026-09-08T12:22:56","date_gmt":"2026-09-08T03:22:56","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=136645"},"modified":"2026-09-08T12:22:56","modified_gmt":"2026-09-08T03:22:56","slug":"cholestasis-progressive-familial-intrahepatic-2-abcb11","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/cholestasis-progressive-familial-intrahepatic-2-abcb11\/","title":{"rendered":"\u9032\u884c\u6027\u5bb6\u65cf\u6027\u809d\u5185\u80c6\u6c41\u3046\u3063\u6ede\u75c72\u578b"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n\n<p>\u9032\u884c\u6027\u5bb6\u65cf\u6027\u809d\u5185\u80c6\u6c41\u3046\u3063\u6ede\u75c72\u578b\uff08Progressive familial intrahepatic cholestasis type 2\u30fbPFIC2\uff09\u306f\u3001\u809d\u81d3\u3067\u4f5c\u3089\u308c\u305f\u80c6\u6c41\u304c\u6d41\u308c\u306b\u304f\u304f\u306a\u308a\u3001\u8d64\u3061\u3083\u3093\u306e\u3053\u308d\u304b\u3089\u9ec4\u75b8\u3084\u5f37\u3044\u304b\u3086\u307f\u304c\u73fe\u308c\u3066\u3001\u809d\u81d3\u306e\u969c\u5bb3\u304c\u5c11\u3057\u305a\u3064\u9032\u3093\u3067\u3044\u304f\u75c5\u6c17\u3067\u3059\u3002\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u3001<strong>ABCB11<\/strong> \u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n\n<p><strong>ABCB11<\/strong> \u907a\u4f1d\u5b50\u306f\u3001<strong>BSEP<\/strong>\uff08\u80c6\u6c41\u9178\u3092\u6c72\u307f\u51fa\u3059\u30dd\u30f3\u30d7\uff09\u3068\u3044\u3046\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002BSEP\u306f\u3001\u809d\u81d3\u306e\u7d30\u80de\u304b\u3089\u80c6\u6c41\u306e\u306a\u304b\u3078\u80c6\u6c41\u9178\u3092\u9001\u308a\u51fa\u3059\u306f\u305f\u3089\u304d\u3092\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u907a\u4f1d\u5b50\u306e\u4e21\u65b9\u306b\u5909\u5316\u304c\u3042\u308b\u3068\u30dd\u30f3\u30d7\u304c\u306f\u305f\u3089\u304b\u305a\u3001\u80c6\u6c41\u9178\u304c\u809d\u81d3\u306e\u7d30\u80de\u306e\u306a\u304b\u306b\u305f\u307e\u308a\u307e\u3059\u3002\u305f\u307e\u3063\u305f\u80c6\u6c41\u9178\u304c\u7d30\u80de\u3092\u50b7\u3064\u3051\u3001\u708e\u75c7\u3068\u7dda\u7dad\u5316\u304c\u9032\u3093\u3067\u3001\u809d\u786c\u5909\u3078\u3068\u81f3\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u751f\u5f8c\u6570\u304b\u6708\u307e\u3067\u306b\u73fe\u308c\u308b\u9ec4\u75b8\uff08\u76ae\u819a\u3084\u767d\u76ee\u304c\u9ec4\u8272\u304f\u306a\u308b\uff09<\/li>\n\n\n\n<li>\u7720\u308c\u306a\u3044\u307b\u3069\u306e\u5f37\u3044\u304b\u3086\u307f<\/li>\n\n\n\n<li>\u4f53\u91cd\u304c\u5897\u3048\u306b\u304f\u304f\u3001\u6210\u9577\u304c\u3086\u3063\u304f\u308a\u306b\u306a\u308b<\/li>\n\n\n\n<li>\u8102\u80aa\u3084\u8102\u6eb6\u6027\u30d3\u30bf\u30df\u30f3\uff08A\u30fbD\u30fbE\u30fbK\uff09\u306e\u5438\u53ce\u304c\u60aa\u304f\u306a\u308b<\/li>\n\n\n\n<li>\u809d\u81d3\u3084\u813e\u81d3\u304c\u5927\u304d\u304f\u306a\u308b<\/li>\n\n\n\n<li>\u9032\u884c\u3059\u308b\u3068\u809d\u786c\u5909\u3001\u9580\u8108\u5727\u4ea2\u9032\u75c7\u3001\u809d\u4e0d\u5168\u306b\u81f3\u308b<\/li>\n\n\n\n<li>\u5e7c\u3044\u3046\u3061\u306b\u809d\u7d30\u80de\u304c\u3093\u3092\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u3042\u308b<\/li>\n\n\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad<\/h2>\n\n\n\n<p>\u8840\u6db2\u691c\u67fb\uff08\u30d3\u30ea\u30eb\u30d3\u30f3\u3001\u80c6\u6c41\u9178\u3001\u03b3-GTP\uff09\u3001\u8179\u90e8\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3001\u809d\u751f\u691c\u306a\u3069\u3067\u80c6\u6c41\u3046\u3063\u6ede\u306e\u539f\u56e0\u3092\u8abf\u3079\u307e\u3059\u3002\u80c6\u6c41\u3046\u3063\u6ede\u304c\u3042\u308b\u306e\u306b <strong>\u03b3-GTP\u304c\u6b63\u5e38\u304b\u4f4e\u3044<\/strong> \u3053\u3068\u304c\u3053\u306e\u75c5\u6c17\u306e\u7279\u5fb4\u3067\u30013\u578b\uff08ABCB4\u304c\u539f\u56e0\uff09\u3068\u898b\u5206\u3051\u308b\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002<strong>ABCB11<\/strong> \u907a\u4f1d\u5b50\u306e\u89e3\u6790\u306b\u3088\u3063\u3066\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30a6\u30eb\u30bd\u30c7\u30aa\u30ad\u30b7\u30b3\u30fc\u30eb\u9178\u306e\u5185\u670d<\/li>\n\n\n\n<li>\u304b\u3086\u307f\u3092\u3084\u308f\u3089\u3052\u308b\u85ac\uff08\u56de\u8178\u80c6\u6c41\u9178\u30c8\u30e9\u30f3\u30b9\u30dd\u30fc\u30bf\u30fc\u963b\u5bb3\u85ac\u306a\u3069\uff09<\/li>\n\n\n\n<li>\u8102\u6eb6\u6027\u30d3\u30bf\u30df\u30f3\u306e\u88dc\u5145\u3068\u6804\u990a\u306e\u7ba1\u7406<\/li>\n\n\n\n<li>\u80c6\u6c41\u5206\u6d41\u8853\uff08\u4f53\u5916\u80c6\u6c41\u763b\u9020\u8a2d\u8853\u306a\u3069\uff09<\/li>\n\n\n\n<li>\u809d\u786c\u5909\u3084\u809d\u4e0d\u5168\u306b\u9032\u3093\u3060\u5834\u5408\u306f\u809d\u79fb\u690d<\/li>\n\n\n<\/ul>\n\n\n\n<p>\u809d\u7d30\u80de\u304c\u3093\u306e\u30ea\u30b9\u30af\u304c\u3042\u308b\u305f\u3081\u3001\u5b9a\u671f\u7684\u306b\u753b\u50cf\u691c\u67fb\u3068\u8840\u6db2\u691c\u67fb\u3092\u53d7\u3051\u3066\u7d4c\u904e\u3092\u307f\u3066\u3044\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u3053\u306e\u75be\u60a3\u306f\u691c\u67fb\u3067\u308f\u304b\u308a\u307e\u3059<\/h2>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>ABCB11<\/strong> \u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u3053\u3068\u3067\u3001\u767a\u75c7\u524d\u3084\u51fa\u751f\u524d\u306b\u898b\u3064\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u6b21\u306e2\u3064\u306e\u691c\u67fb\u3092\u3054\u7528\u610f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3092\u7528\u3044\u305f\u691c\u67fb\uff081,200\u7a2e\u985e\u4ee5\u4e0a\uff09<\/h3>\n\n\n\n<p>\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306f\u3001\u907a\u4f1d\u5b50\u306e\u3046\u3061\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3\u306b\u3042\u305f\u308b\u90e8\u5206\uff08\u30a8\u30af\u30bd\u30f3\uff09\u3092\u307e\u3068\u3081\u3066\u8aad\u307f\u53d6\u308b\u691c\u67fb\u3067\u3059\u3002\u3053\u306e\u89e3\u6790\u3092\u884c\u3063\u305f\u3046\u3048\u3067\u3001<strong>ABCB11<\/strong> \u907a\u4f1d\u5b50\u3092\u542b\u3080<strong>1,200\u7a2e\u985e\u4ee5\u4e0a<\/strong>\u306e\u907a\u4f1d\u5b50\u3092\u5bfe\u8c61\u306b\u8abf\u3079\u3001<strong>\u3053\u306e\u75be\u60a3\u306e\u539f\u56e0\u3068\u306a\u308b\u5909\u5316\u3092\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059<\/strong>\u3002\u56fd\u5185\u306e\u691c\u67fb\u6240\u3067\u884c\u3044\u3001\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f5\u9031\u9593\u301c7\u9031\u9593\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\uff08228\u7a2e\u985e\uff09<\/h3>\n\n\n\n<p>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u75be\u60a3\u306f\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u75c7\u72b6\u306e\u306a\u3044\u300c\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u300d\u3067\u3042\u308b\u3068\u304d\u306b\u3001<strong>4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u304a\u5b50\u3055\u307e\u304c\u767a\u75c7\u3057\u307e\u3059\u3002\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\u3067\u306f\u3001\u3054\u592b\u5a66\u304c\u3053\u306e\u75be\u60a3\u306e\u30ad\u30e3\u30ea\u30a2\u304b\u3069\u3046\u304b\u3092\u982c\u306e\u5185\u5074\u306e\u7c98\u819c\u304b\u3089\u8abf\u3079\u3001<strong>\u304a\u5b50\u3055\u307e\u306b\u53d7\u3051\u7d99\u304c\u308c\u308b\u53ef\u80fd\u6027\u3092\u3001\u598a\u5a20\u524d\u3084\u51fa\u751f\u524d\u306b\u4e88\u6e2c\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059<\/strong>\u3002<\/p>\n\n\n\n<p>\u691c\u67fb\u306e\u5185\u5bb9\u30fb\u8cbb\u7528\u30fb\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f <a href=\"\/nipt\/nipt\/autosomal-recessive-inheritance\/\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8228<\/a> \u306e\u30da\u30fc\u30b8\u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n\n<p>PFIC2\u306f <strong>ABCB11<\/strong>\uff082q31.1\uff09\u304c\u30b3\u30fc\u30c9\u3059\u308b bile salt export pump\uff08BSEP, ABCB11\uff09\u306e\u6a5f\u80fd\u55aa\u5931\u306b\u3088\u308a\u751f\u3058\u308b\u3002BSEP\u306f\u809d\u7d30\u80de\u306e\u6bdb\u7d30\u80c6\u7ba1\u5074\u819c\u306b\u5c40\u5728\u3059\u308bATP\u4f9d\u5b58\u6027\u30c8\u30e9\u30f3\u30b9\u30dd\u30fc\u30bf\u30fc\u3067\u3001\u80c6\u6c41\u9178\u306e\u80c6\u6c41\u4e2d\u3078\u306e\u6392\u6cc4\u306b\u304a\u3051\u308b\u5f8b\u901f\u6bb5\u968e\u3092\u62c5\u3046\u3002<\/p>\n\n\n\n<p>BSEP\u306e\u6b20\u640d\u306b\u3088\u308a\u809d\u7d30\u80de\u5185\u306b\u80c6\u6c41\u9178\u304c\u84c4\u7a4d\u3057\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u969c\u5bb3\u3068\u30a2\u30dd\u30c8\u30fc\u30b7\u30b9\u3092\u4ecb\u3057\u3066\u9032\u884c\u6027\u306e\u809d\u7d30\u80de\u969c\u5bb3\u3092\u304d\u305f\u3059\u3002\u8840\u6e05\u03b3-GTP\u304c\u6b63\u5e38\u301c\u4f4e\u5024\u3092\u793a\u3059\u70b9\u306fPFIC1\uff08ATP8B1\uff09\u3068\u5171\u901a\u3057\u3001\u03b3-GTP\u9ad8\u5024\u3092\u793a\u3059PFIC3\uff08ABCB4\uff09\u3068\u306e\u9451\u5225\u70b9\u3068\u306a\u308b\u3002<\/p>\n\n\n\n<p>\u809d\u751f\u691c\u306e\u514d\u75ab\u67d3\u8272\u3067BSEP\u306e\u6bdb\u7d30\u80c6\u7ba1\u5074\u819c\u306b\u304a\u3051\u308b\u767a\u73fe\u6d88\u5931\u3092\u8a8d\u3081\u308b\u3053\u3068\u304c\u8a3a\u65ad\u306e\u652f\u6301\u6240\u898b\u3068\u306a\u308b\u3002PFIC2\u306f<strong>\u5e7c\u5c11\u671f\u304b\u3089\u306e\u809d\u7d30\u80de\u764c\u304a\u3088\u3073\u80c6\u7ba1\u764c\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u3044<\/strong>\u3053\u3068\u304c\u77e5\u3089\u308c\u3001\u5b9a\u671f\u7684\u306a\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\u3092\u8981\u3059\u308b\u3002\u307e\u305f\u3001\u8efd\u75c7\u578b\u3068\u3057\u3066\u826f\u6027\u53cd\u5fa9\u6027\u809d\u5185\u80c6\u6c41\u3046\u3063\u6ede2\u578b\uff08BRIC2\uff09\u3084\u598a\u5a20\u6027\u809d\u5185\u80c6\u6c41\u3046\u3063\u6ede\u3068\u306e\u5bfe\u7acb\u907a\u4f1d\u5b50\u75be\u60a3\u306e\u95a2\u4fc2\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u30a6\u30eb\u30bd\u30c7\u30aa\u30ad\u30b7\u30b3\u30fc\u30eb\u9178\u3001\u90e8\u5206\u7684\u5916\u80c6\u6c41\u763b\u9020\u8a2d\u8853\uff08PEBD\uff09\u306a\u3069\u306e\u80c6\u6c41\u5206\u6d41\u8853\u3001\u8fd1\u5e74\u306f\u56de\u8178\u80c6\u6c41\u9178\u30c8\u30e9\u30f3\u30b9\u30dd\u30fc\u30bf\u30fc\uff08IBAT\uff09\u963b\u5bb3\u85ac\u304c\u7528\u3044\u3089\u308c\u308b\u3002\u9032\u884c\u4f8b\u3067\u306f\u809d\u79fb\u690d\u304c\u9069\u5fdc\u3068\u306a\u308b\u304c\u3001\u79fb\u690d\u5f8c\u306bBSEP\u306b\u5bfe\u3059\u308b\u540c\u7a2e\u6297\u4f53\u306b\u3088\u308b\u518d\u767a\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002&#8217;),<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u3053\u306e\u75c5\u6c17\u306f\u907a\u4f1d\u3057\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u5f62\u5f0f\u3067\u53d7\u3051\u7d99\u304c\u308c\u307e\u3059\u3002\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u3067\u3042\u308b\u5834\u5408\u3001\u304a\u5b50\u3055\u307e\u304c\u767a\u75c7\u3059\u308b\u78ba\u7387\u306f4\u5206\u306e1\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u691c\u67fb\u3067\u8abf\u3079\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u3067\u304d\u307e\u3059\u3002\u539f\u56e0\u3068\u306a\u308b <strong>ABCB11<\/strong> \u907a\u4f1d\u5b50\u3092\u3001\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3092\u7528\u3044\u305f\u691c\u67fb\uff081,200\u7a2e\u985e\u4ee5\u4e0a\uff09\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\u3002\u307e\u305f\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\u3067\u3001\u3054\u592b\u5a66\u304c\u30ad\u30e3\u30ea\u30a2\u304b\u3069\u3046\u304b\u3092\u4e8b\u524d\u306b\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u304b\u3086\u307f\u306f\u3069\u3046\u3059\u308c\u3070\u3084\u308f\u3089\u304e\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u30a6\u30eb\u30bd\u30c7\u30aa\u30ad\u30b7\u30b3\u30fc\u30eb\u9178\u306e\u5185\u670d\u3084\u3001\u304b\u3086\u307f\u3092\u3084\u308f\u3089\u3052\u308b\u85ac\uff08\u56de\u8178\u80c6\u6c41\u9178\u30c8\u30e9\u30f3\u30b9\u30dd\u30fc\u30bf\u30fc\u963b\u5bb3\u85ac\u306a\u3069\uff09\u304c\u7528\u3044\u3089\u308c\u307e\u3059\u3002\u52b9\u679c\u304c\u5341\u5206\u3067\u306a\u3044\u5834\u5408\u306b\u306f\u3001\u80c6\u6c41\u306e\u6d41\u308c\u3092\u5909\u3048\u308b\u624b\u8853\uff08\u80c6\u6c41\u5206\u6d41\u8853\uff09\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u809d\u79fb\u690d\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u809d\u786c\u5909\u3084\u809d\u4e0d\u5168\u306b\u9032\u3093\u3060\u5834\u5408\u306b\u306f\u3001\u809d\u79fb\u690d\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002\u65e9\u3044\u6642\u671f\u304b\u3089\u6cbb\u7642\u3068\u7d4c\u904e\u89b3\u5bdf\u3092\u7d9a\u3051\u308b\u3053\u3068\u3067\u3001\u9032\u884c\u3092\u3086\u308b\u3084\u304b\u306b\u3067\u304d\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u304c\u3093\u306e\u30ea\u30b9\u30af\u304c\u3042\u308b\u3068\u805e\u304d\u307e\u3057\u305f\u3002<\/h3>\n\n\n\n<p>A. \u5e7c\u3044\u3046\u3061\u306b\u809d\u7d30\u80de\u304c\u3093\u3092\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u5b9a\u671f\u7684\u306b\u753b\u50cf\u691c\u67fb\u3068\u8840\u6db2\u691c\u67fb\u3092\u53d7\u3051\u3066\u7d4c\u904e\u3092\u307f\u3066\u3044\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Strautnieks SS, Bull LN, Knisely AS, et al. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. <em>Nat Genet<\/em>. 1998;20(3):233-238.<\/li>\n\n\n\n<li>Jansen PL, Strautnieks SS, Jacquemin E, et al. Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. <em>Gastroenterology<\/em>. 1999;117(6):1370-1379.<\/li>\n\n\n\n<li>Knisely AS, Strautnieks SS, Meier Y, et al. Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency. <em>Hepatology<\/em>. 2006;44(2):478-486.<\/li>\n\n\n\n<li>Bull LN, Thompson RJ. Progressive Familial Intrahepatic Cholestasis. <em>Clin Liver Dis<\/em>. 2018;22(4):657-669.<\/li>\n\n\n\n<li>OMIM #601847 Cholestasis, progressive familial intrahepatic, 2<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136645","genetic-diseases","type-genetic-diseases","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136645","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/genetic-diseases"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136645\/revisions"}],"predecessor-version":[{"id":136655,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136645\/revisions\/136655"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136645"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}