{"id":136658,"date":"2026-09-08T12:22:57","date_gmt":"2026-09-08T03:22:57","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=136658"},"modified":"2026-09-08T12:22:57","modified_gmt":"2026-09-08T03:22:57","slug":"sitosterolemia-1-abcg8","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/sitosterolemia-1-abcg8\/","title":{"rendered":"\u30b7\u30c8\u30b9\u30c6\u30ed\u30fc\u30eb\u8840\u75c71\u578b"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n\n<p>\u30b7\u30c8\u30b9\u30c6\u30ed\u30fc\u30eb\u8840\u75c71\u578b\uff08Sitosterolemia 1\uff09\u306f\u3001\u690d\u7269\u306b\u542b\u307e\u308c\u308b\u8102\uff08\u690d\u7269\u30b9\u30c6\u30ed\u30fc\u30eb\uff09\u304c\u8178\u304b\u3089\u5438\u53ce\u3055\u308c\u3059\u304e\u3066\u3001\u4f53\u306e\u306a\u304b\u306b\u305f\u307e\u3063\u3066\u3057\u307e\u3046\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>ABCG8<\/strong> \u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u76ae\u819a\u3084\u8171\u306b\u9ec4\u8272\u3044\u3053\u3076\uff08\u9ec4\u8272\u816b\uff09\u304c\u3067\u304d\u3001\u82e5\u3044\u3046\u3061\u304b\u3089\u52d5\u8108\u786c\u5316\u304c\u9032\u3093\u3067\u3001\u5fc3\u7b4b\u6897\u585e\u306a\u3069\u3092\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u98df\u4e8b\u306e\u5de5\u592b\u3068\u85ac\u3067\u3001\u305f\u307e\u308b\u91cf\u3092\u6e1b\u3089\u3059\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n\n<p><strong>ABCG8<\/strong> \u907a\u4f1d\u5b50\u306f\u3001\u8178\u3068\u809d\u81d3\u3067\u306f\u305f\u3089\u304f\u300c\u6392\u51fa\u30dd\u30f3\u30d7\u300d\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002\u3053\u306e\u30dd\u30f3\u30d7\u306f\u3001<strong>ABCG5<\/strong> \u304c\u3064\u304f\u308b\u305f\u3093\u3071\u304f\u8cea\u3068\u7d44\u306b\u306a\u3063\u3066\u3001\u4f53\u306b\u53d6\u308a\u8fbc\u307e\u308c\u305f\u690d\u7269\u30b9\u30c6\u30ed\u30fc\u30eb\u3092\u8178\u3084\u80c6\u6c41\u3078\u62bc\u3057\u623b\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3069\u3061\u3089\u304b\u306e\u907a\u4f1d\u5b50\u306b\u5909\u5316\u304c\u3042\u308b\u3068\u30dd\u30f3\u30d7\u304c\u306f\u305f\u3089\u304b\u305a\u3001\u3075\u3060\u3093\u306f\u307b\u3068\u3093\u3069\u5438\u53ce\u3055\u308c\u306a\u3044\u690d\u7269\u30b9\u30c6\u30ed\u30fc\u30eb\u304c\u4f53\u306b\u305f\u307e\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>\u3072\u3058\u30fb\u3072\u3056\u30fb\u30a2\u30ad\u30ec\u30b9\u8171\u30fb\u624b\u306e\u7532\u306a\u3069\u306b\u3067\u304d\u308b\u9ec4\u8272\u3044\u3053\u3076\uff08\u9ec4\u8272\u816b\uff09<\/li>\n\n\n\n<li>\u82e5\u3044\u3046\u3061\u304b\u3089\u9032\u3080\u52d5\u8108\u786c\u5316\uff08\u72ed\u5fc3\u75c7\u30fb\u5fc3\u7b4b\u6897\u585e\uff09<\/li>\n\n\n\n<li>\u8840\u6db2\u4e2d\u306e\u690d\u7269\u30b9\u30c6\u30ed\u30fc\u30eb\uff08\u30b7\u30c8\u30b9\u30c6\u30ed\u30fc\u30eb\u306a\u3069\uff09\u306e\u5897\u52a0<\/li>\n\n\n\n<li>\u6eb6\u8840\u6027\u8ca7\u8840\u3001\u8840\u5c0f\u677f\u306e\u6e1b\u5c11<\/li>\n\n\n\n<li>\u95a2\u7bc0\u306e\u75db\u307f<\/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\u4e2d\u306e\u690d\u7269\u30b9\u30c6\u30ed\u30fc\u30eb\uff08\u30b7\u30c8\u30b9\u30c6\u30ed\u30fc\u30eb\u3001\u30ab\u30f3\u30da\u30b9\u30c6\u30ed\u30fc\u30eb\u306a\u3069\uff09\u3092\u6e2c\u308b\u3053\u3068\u3067\u8a3a\u65ad\u3057\u307e\u3059\u3002\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u306e\u5024\u306f\u6b63\u5e38\u306e\u3053\u3068\u3082\u3042\u308a\u3001\u5bb6\u65cf\u6027\u9ad8\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u8840\u75c7\u3068\u307e\u3061\u304c\u3048\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<strong>ABCG8<\/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>\u690d\u7269\u30b9\u30c6\u30ed\u30fc\u30eb\u3092\u591a\u304f\u542b\u3080\u98df\u54c1\uff08\u690d\u7269\u6cb9\u3001\u30ca\u30c3\u30c4\u3001\u7a2e\u5b9f\u985e\u306a\u3069\uff09\u3092\u63a7\u3048\u308b<\/li>\n\n\n\n<li>\u30a8\u30bc\u30c1\u30df\u30d6\uff08\u8178\u304b\u3089\u306e\u5438\u53ce\u3092\u304a\u3055\u3048\u308b\u85ac\uff09\u306e\u5185\u670d<\/li>\n\n\n\n<li>\u80c6\u6c41\u9178\u5438\u7740\u30ec\u30b8\u30f3\u306e\u5185\u670d<\/li>\n\n\n\n<li>\u52d5\u8108\u786c\u5316\u306e\u9032\u884c\u3092\u9632\u3050\u305f\u3081\u306e\u5b9a\u671f\u7684\u306a\u691c\u67fb<\/li>\n\n\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u3053\u306e\u75be\u60a3\u306f\u691c\u67fb\u3067\u308f\u304b\u308a\u307e\u3059<\/h2>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>ABCG8<\/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>ABCG8<\/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>\u30b7\u30c8\u30b9\u30c6\u30ed\u30fc\u30eb\u8840\u75c71\u578b\u306f\u3001<strong>ABCG8<\/strong>\uff082p21\uff09\u306e\u4e21\u30a2\u30ec\u30eb\u5909\u7570\u306b\u3088\u308a\u751f\u3058\u308b\u3002ABCG8\u306fABCG5\u3068\u30d8\u30c6\u30ed\u4e8c\u91cf\u4f53\u3092\u5f62\u6210\u3057\u3066\u306f\u3058\u3081\u3066\u6a5f\u80fd\u3059\u308b half-transporter \u3067\u3042\u308a\u3001\u3044\u305a\u308c\u304b\u4e00\u65b9\u306e\u6b20\u640d\u3067\u540c\u3058\u8868\u73fe\u578b\u3092\u304d\u305f\u3059\u3002<\/p>\n\n\n\n<p>ABCG5\/ABCG8 \u306f\u5c0f\u8178\u4e0a\u76ae\u306e\u5237\u5b50\u7e01\u819c\u3068\u809d\u7d30\u80de\u306e\u6bdb\u7d30\u80c6\u7ba1\u5074\u819c\u306b\u5c40\u5728\u3057\u3001\u5438\u53ce\u3055\u308c\u305f\u690d\u7269\u30b9\u30c6\u30ed\u30fc\u30eb\u3092\u8178\u7ba1\u8154\u304a\u3088\u3073\u80c6\u6c41\u3078\u6392\u51fa\u3059\u308b\u3002\u6a5f\u80fd\u55aa\u5931\u306b\u3088\u308a\u8840\u4e2d\u690d\u7269\u30b9\u30c6\u30ed\u30fc\u30eb\u6fc3\u5ea6\u304c\u6b63\u5e38\u306e30\u301c100\u500d\u306b\u4e0a\u6607\u3057\u3001\u9ec4\u8272\u816b\u3068\u65e9\u767a\u6027\u52d5\u8108\u786c\u5316\u3092\u304d\u305f\u3059\u3002<\/p>\n\n\n\n<p>\u30a8\u30bc\u30c1\u30df\u30d6\u306b\u3088\u308bNPC1L1\u963b\u5bb3\u304c\u6709\u52b9\u3067\u3001\u30b9\u30bf\u30c1\u30f3\u306e\u52b9\u679c\u306f\u9650\u5b9a\u7684\u3067\u3042\u308b\u3002\u65e5\u672c\u4eba\u3067\u306fABCG8\u5909\u7570\u4f8b\u306e\u5831\u544a\u304c\u6bd4\u8f03\u7684\u591a\u3044\u3068\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<p>\u5c0f\u5150\u671f\u306b\u9ec4\u8272\u816b\u3092\u8a8d\u3081\u3001LDL\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u304c\u8457\u660e\u9ad8\u5024\u3067\u306a\u3044\u75c7\u4f8b\u3001\u3042\u308b\u3044\u306f\u30b9\u30bf\u30c1\u30f3\u62b5\u6297\u6027\u306e\u9ad8\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u8840\u75c7\u4f8b\u3067\u306f\u3001\u672c\u75c7\u3092\u9451\u5225\u306b\u6319\u3052\u8840\u6e05\u690d\u7269\u30b9\u30c6\u30ed\u30fc\u30eb\u3092\u6e2c\u5b9a\u3059\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u690d\u7269\u6cb9\u3084\u30ca\u30c3\u30c4\u306f\u98df\u3079\u3066\u306f\u3044\u3051\u306a\u3044\u306e\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u591a\u304f\u542b\u3080\u98df\u54c1\u306f\u63a7\u3048\u3066\u3044\u305f\u3060\u304f\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002\u7ba1\u7406\u6804\u990a\u58eb\u3068\u3054\u76f8\u8ac7\u306e\u3046\u3048\u3001\u7121\u7406\u306e\u306a\u3044\u98df\u4e8b\u306e\u5de5\u592b\u3092\u7d9a\u3051\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u306e\u85ac\u306f\u52b9\u304d\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u4e00\u822c\u7684\u306a\u30b9\u30bf\u30c1\u30f3\u306e\u52b9\u679c\u306f\u9650\u3089\u308c\u307e\u3059\u304c\u3001\u30a8\u30bc\u30c1\u30df\u30d6\u3068\u3044\u3046\u85ac\u304c\u3088\u304f\u52b9\u304f\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. 2\u578b\u3068\u306f\u3069\u3046\u9055\u3046\u306e\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u304c\u9055\u3046\u3060\u3051\u3067\uff081\u578b\u306f <strong>ABCG8<\/strong>\u30012\u578b\u306f <strong>ABCG5<\/strong>\uff09\u3001\u75c7\u72b6\u3084\u6cbb\u7642\u306f\u540c\u3058\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u8ca7\u8840\u3082\u3053\u306e\u75c5\u6c17\u3068\u95a2\u4fc2\u304c\u3042\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u306f\u3044\u3002\u8d64\u8840\u7403\u306e\u819c\u306b\u690d\u7269\u30b9\u30c6\u30ed\u30fc\u30eb\u304c\u305f\u307e\u308b\u3053\u3068\u3067\u3001\u6eb6\u8840\u6027\u8ca7\u8840\u3084\u8840\u5c0f\u677f\u306e\u6e1b\u5c11\u304c\u8d77\u3053\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u5b50\u3069\u3082\u306b\u3082\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\u3067\u3059\u3002\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u306e\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<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Berge KE, Tian H, Graf GA, et al. Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. <em>Science<\/em>. 2000;290(5497):1771-1775.<\/li>\n\n\n\n<li>Lu K, Lee MH, Hazard S, et al. Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2. <em>Am J Hum Genet<\/em>. 2001;69(2):278-290.<\/li>\n\n\n\n<li>Salen G, von Bergmann K, L\u00fctjohann D, et al. Ezetimibe effectively reduces plasma plant sterols in patients with sitosterolemia. <em>Circulation<\/em>. 2004;109(8):966-971.<\/li>\n\n\n\n<li>Tada H, Nomura A, Ogura M, et al. Diagnosis and Management of Sitosterolemia 2021. <em>J Atheroscler Thromb<\/em>. 2021;28(8):791-801.<\/li>\n\n\n\n<li>OMIM #210250 Sitosterolemia 1<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136658","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\/136658","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/genetic-diseases"}],"version-history":[{"count":1,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136658\/revisions"}],"predecessor-version":[{"id":137028,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136658\/revisions\/137028"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136658"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}