{"id":147748,"date":"2026-11-03T03:47:10","date_gmt":"2026-11-02T18:47:10","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/bruck-syndrome-2-plod2\/"},"modified":"2026-11-03T03:47:10","modified_gmt":"2026-11-02T18:47:10","slug":"bruck-syndrome-2-plod2","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/bruck-syndrome-2-plod2\/","title":{"rendered":"\u30d6\u30eb\u30c3\u30af\u75c7\u5019\u7fa42\u578b"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n<p class=\"wp-block-paragraph\">\u30d6\u30eb\u30c3\u30af\u75c7\u5019\u7fa42\u578b\u306f\u3001<strong>\u9aa8\u304c\u6298\u308c\u3084\u3059\u3044\u6027\u8cea\uff08\u9aa8\u5f62\u6210\u4e0d\u5168\u75c7\u306b\u4f3c\u305f\u75c7\u72b6\uff09\u3068\u3001\u751f\u307e\u308c\u3064\u304d\u5927\u304d\u306a\u95a2\u7bc0\u304c\u66f2\u304c\u3063\u305f\u307e\u307e\u4f38\u3073\u306b\u304f\u3044\u72b6\u614b\uff08\u5148\u5929\u6027\u95a2\u7bc0\u62d8\u7e2e\uff09\u3092\u3042\u308f\u305b\u3082\u3064\u75c5\u6c17<\/strong>\u3067\u3059\u3002\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u3001<strong>PLOD2<\/strong>\uff083q24\uff09\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u3072\u3058\u30fb\u3072\u3056\u306a\u3069\u306e\u95a2\u7bc0\u306e\u62d8\u7e2e\u306f<strong>\u751f\u307e\u308c\u305f\u3068\u304d\u304b\u3089\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u304f<\/strong>\u3001\u9aa8\u6298\u306f\u4e73\u5e7c\u5150\u671f\u304b\u3089\u5c0f\u5150\u671f\u306b\u304b\u3051\u3066\u7e70\u308a\u8fd4\u3057\u8d77\u3053\u308a\u307e\u3059\u3002\u9aa8\u6298\u3068\u5909\u5f62\u304c\u91cd\u306a\u308b\u3053\u3068\u3067\u3001<strong>\u80cc\u9aa8\u306e\u66f2\u304c\u308a\uff08\u5074\u5f2f\uff09\u3084\u4f4e\u8eab\u9577<\/strong>\u306b\u3064\u306a\u304c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u4e00\u65b9\u3067\u3001<strong>\u77e5\u7684\u306a\u767a\u9054\u306b\u306f\u901a\u5e38\u5f71\u97ff\u304c\u306a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/strong><\/p>\n\n\n<p class=\"wp-block-paragraph\">\u30d6\u30eb\u30c3\u30af\u75c7\u5019\u7fa4\u306b\u306f\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u9055\u3044\u306b\u3088\u3063\u3066<strong>1\u578b\uff08FKBP10 \u907a\u4f1d\u5b50\uff09\u30682\u578b\uff08PLOD2 \u907a\u4f1d\u5b50\uff09<\/strong>\u304c\u3042\u308a\u307e\u3059\u3002<strong>2\u3064\u306e\u578b\u306f\u75c7\u72b6\u304c\u3088\u304f\u4f3c\u3066\u3044\u3066\u3001\u898b\u305f\u76ee\u3060\u3051\u3067\u533a\u5225\u3059\u308b\u3053\u3068\u306f\u96e3\u3057\u304f\u3001\u907a\u4f1d\u5b50\u3092\u8abf\u3079\u3066\u306f\u3058\u3081\u3066\u3069\u3061\u3089\u306e\u578b\u304b\u304c\u308f\u304b\u308a\u307e\u3059\u3002<\/strong>\u307e\u305f PLOD2 \u907a\u4f1d\u5b50\u306e\u5909\u5316\u3067\u306f\u3001\u95a2\u7bc0\u62d8\u7e2e\u304c\u307b\u3068\u3093\u3069\u76ee\u7acb\u305f\u305a\u3001\u9aa8\u6298\u3057\u3084\u3059\u3055\u304c\u4e2d\u5fc3\u3068\u306a\u308b\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>PLOD2<\/strong> \u306f\u3001\u9aa8\u306e\u4e3b\u306a\u6750\u6599\u3067\u3042\u308b<strong>\u30b3\u30e9\u30fc\u30b2\u30f3\u306e\u7aef\u306e\u90e8\u5206\u306b\u624b\u3092\u52a0\u3048\u308b\u9175\u7d20\uff08\u30ea\u30b7\u30eb\u30d2\u30c9\u30ed\u30ad\u30b7\u30e9\u30fc\u30bc2\uff09<\/strong>\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u30b3\u30e9\u30fc\u30b2\u30f3\u306f\u7d30\u3044\u7cf8\u306e\u3088\u3046\u306a\u5206\u5b50\u3067\u3001<strong>\u5206\u5b50\u3069\u3046\u3057\u304c\u7aef\u306e\u90e8\u5206\u3067\u300c\u6a4b\u304b\u3051\uff08\u67b6\u6a4b\uff09\u300d\u3092\u3064\u304f\u3063\u3066\u7d50\u3073\u3064\u304f\u3053\u3068\u3067\u3001\u4e08\u592b\u306a\u7dda\u7dad\u306b\u306a\u308a\u307e\u3059<\/strong>\u3002\u3053\u306e\u9175\u7d20\u306f\u3001\u9aa8\u306e\u30b3\u30e9\u30fc\u30b2\u30f3\u304c\u6b63\u3057\u3044\u7a2e\u985e\u306e\u6a4b\u304b\u3051\u3092\u3064\u304f\u308b\u305f\u3081\u306e\u4e0b\u6e96\u5099\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002\u306f\u305f\u3089\u304d\u304c\u5931\u308f\u308c\u308b\u3068\u3001<strong>\u9aa8\u306e\u30b3\u30e9\u30fc\u30b2\u30f3\u306e\u7d50\u3073\u3064\u304d\u304c\u5f31\u304f\u306a\u308a\u3001\u9aa8\u304c\u3082\u308d\u304f\u6298\u308c\u3084\u3059\u304f\u306a\u308a\u307e\u3059<\/strong>\u3002\u95a2\u7bc0\u62d8\u7e2e\u304c\u8d77\u3053\u308b\u8a73\u3057\u3044\u3057\u304f\u307f\u306f\u3001\u307e\u3060\u5341\u5206\u306b\u306f\u308f\u304b\u3063\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u304a\u7236\u3055\u307e\u30fb\u304a\u6bcd\u3055\u307e\u304c\u305d\u308c\u305e\u308c\u75c7\u72b6\u306e\u306a\u3044\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u3067\u3001\u305d\u306e\u4e21\u65b9\u304b\u3089\u5909\u5316\u3057\u305f\u907a\u4f1d\u5b50\u3092\u53d7\u3051\u7d99\u3044\u3060\u3068\u304d\u306b\u767a\u75c7\u3057\u307e\u3059\uff08\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\uff09\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6<\/h2>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5148\u5929\u6027\u306e\u95a2\u7bc0\u62d8\u7e2e<\/strong>\uff1a\u3072\u3058\u30fb\u3072\u3056\u30fb\u8db3\u9996\u306a\u3069\u306e\u5927\u304d\u306a\u95a2\u7bc0\u304c\u66f2\u304c\u3063\u305f\u307e\u307e\u3001\u307e\u305f\u306f\u4f38\u3073\u305f\u307e\u307e\u3067\u52d5\u304d\u306b\u304f\u304f\u306a\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u7ffc\u72b6\u7247<\/strong>\uff1a\u95a2\u7bc0\u306e\u5185\u5074\u306b\u76ae\u819a\u306e\u819c\u306e\u3088\u3046\u306a\u3072\u3060\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u9aa8\u6298\u3092\u7e70\u308a\u8fd4\u3059<\/strong>\uff1a\u5c0f\u3055\u306a\u529b\u3067\u9aa8\u304c\u6298\u308c\u3001<strong>\u4e73\u5e7c\u5150\u671f\u304b\u3089\u5c0f\u5150\u671f\u306b\u304b\u3051\u3066\u9aa8\u6298\u3092\u91cd\u306d\u308b\u3053\u3068\u304c\u591a\u3044<\/strong>\u3067\u3059<\/li>\n\n\n\n<li><strong>\u9aa8\u306e\u5909\u5f62\u3068\u5074\u5f2f<\/strong>\uff1a\u9aa8\u6298\u3068\u5909\u5f62\u304c\u91cd\u306a\u308a\u3001\u624b\u8db3\u306e\u9aa8\u306e\u66f2\u304c\u308a\u3084\u80cc\u9aa8\u306e\u5074\u5f2f\u304c\u9032\u3080\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li>\u4f4e\u8eab\u9577\u3001\u5185\u53cd\u8db3<\/li>\n\n\n\n<li>X\u7dda\u3067\u9aa8\u306e\u91cf\u304c\u5c11\u306a\u304f\u898b\u3048\u308b\uff08\u9aa8\u5bc6\u5ea6\u306e\u4f4e\u4e0b\uff09\u3001\u982d\u306e\u9aa8\u306b\u5c0f\u3055\u306a\u9aa8\u7247\uff08\u30a6\u30a9\u30eb\u30e0\u9aa8\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u91cd\u3055\u306b\u306f\u500b\u4eba\u5dee\u304c\u5927\u304d\u304f<\/strong>\u3001\u6b69\u884c\u306b\u8eca\u3044\u3059\u304c\u5fc5\u8981\u306b\u306a\u308b\u65b9\u304b\u3089\u3001\u6bd4\u8f03\u7684\u8efd\u3044\u7d4c\u904e\u306e\u65b9\u307e\u3067\u3044\u307e\u3059<\/li>\n\n\n<\/ul>\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad<\/h2>\n\n\n<p class=\"wp-block-paragraph\">\u751f\u307e\u308c\u305f\u3068\u304d\u306e<strong>\u95a2\u7bc0\u62d8\u7e2e<\/strong>\u3068\u3001\u305d\u306e\u5f8c\u306e<strong>\u7e70\u308a\u8fd4\u3059\u9aa8\u6298<\/strong>\u304b\u3089\u7591\u308f\u308c\u307e\u3059\u3002\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u3001\u624b\u8db3\u306e\u95a2\u7bc0\u306e\u4f4d\u7f6e\u306e\u7570\u5e38\u3084\u52d5\u304d\u306e\u5c11\u306a\u3055\u304c\u6307\u6458\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001<strong>\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u3060\u3051\u3067\u8a3a\u65ad\u3092\u3064\u3051\u308b\u3053\u3068\u306f\u96e3\u3057\u3044<\/strong>\u3068\u3055\u308c\u307e\u3059\u3002X\u7dda\u691c\u67fb\u3067\u9aa8\u5bc6\u5ea6\u306e\u4f4e\u4e0b\u3084\u9aa8\u306e\u5909\u5f62\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u78ba\u5b9a\u8a3a\u65ad\u306f<strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong>\u3067\u884c\u3044\u3001\u30d6\u30eb\u30c3\u30af\u75c7\u5019\u7fa42\u578b\u3067\u306f <strong>PLOD2<\/strong> \u907a\u4f1d\u5b50\u306b\u7236\u65b9\u30fb\u6bcd\u65b9\u305d\u308c\u305e\u308c\u7531\u6765\u306e\u5909\u5316\u304c\u898b\u3064\u304b\u308a\u307e\u3059\u3002<strong>1\u578b\uff08FKBP10\uff09\u3084\u3001\u95a2\u7bc0\u62d8\u7e2e\u3092\u4f34\u3046\u307b\u304b\u306e\u75c5\u6c17\u3068\u898b\u5206\u3051\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u306e\u898b\u901a\u3057\u3092\u6b63\u3057\u304f\u304a\u4f1d\u3048\u3059\u308b\u305f\u3081\u306b\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u78ba\u5b9a\u3059\u308b\u3053\u3068\u306b\u306f\u5927\u304d\u306a\u610f\u5473\u304c\u3042\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u73fe\u6642\u70b9\u3067\u3001\u907a\u4f1d\u5b50\u306e\u5909\u5316\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u6cbb\u7642\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u9aa8\u6298\u3092\u6e1b\u3089\u3057\u3001\u95a2\u7bc0\u306e\u52d5\u304d\u3068\u751f\u6d3b\u306e\u81ea\u7acb\u3092\u3067\u304d\u308b\u3060\u3051\u4fdd\u3064\u305f\u3081\u306e\u6cbb\u7642\u3068\u652f\u63f4\u3092\u3001<strong>\u6574\u5f62\u5916\u79d1\u30fb\u5c0f\u5150\u79d1\u30fb\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u306a\u3069\u304c\u9023\u643a\u3057\u3066\u9577\u304f\u7d9a\u3051\u3066\u3044\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/strong><\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9aa8\u3092\u5f37\u304f\u3059\u308b\u85ac<\/strong>\uff1a\u9aa8\u5f62\u6210\u4e0d\u5168\u75c7\u3068\u540c\u3058\u3088\u3046\u306b\u3001\u30d3\u30b9\u30db\u30b9\u30db\u30cd\u30fc\u30c8\u88fd\u5264\u3067\u9aa8\u5bc6\u5ea6\u3092\u9ad8\u3081\u3001\u9aa8\u6298\u3092\u6e1b\u3089\u3059\u3053\u3068\u304c\u8a66\u307f\u3089\u308c\u307e\u3059\uff08\u52b9\u679c\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\uff09<\/li>\n\n\n\n<li><strong>\u6574\u5f62\u5916\u79d1\u7684\u6cbb\u7642<\/strong>\uff1a\u9aa8\u6298\u306e\u6cbb\u7642\u3001\u9aa8\u306e\u5909\u5f62\u3092\u6574\u3048\u308b\u624b\u8853\u3001\u5074\u5f2f\u3078\u306e\u5bfe\u5fdc\u3001\u5185\u53cd\u8db3\u306e\u6cbb\u7642\u306a\u3069<\/li>\n\n\n\n<li><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong>\uff1a\u95a2\u7bc0\u306e\u52d5\u304f\u7bc4\u56f2\u3092\u4fdd\u3064\u8a13\u7df4\u3001\u88c5\u5177\u3001\u79fb\u52d5\u624b\u6bb5\uff08\u8eca\u3044\u3059\u306a\u3069\uff09\u306e\u5de5\u592b<\/li>\n\n\n\n<li><strong>\u65e5\u5e38\u751f\u6d3b\u306e\u5de5\u592b<\/strong>\uff1a\u9aa8\u6298\u3092\u9632\u3050\u305f\u3081\u306e\u62b1\u304d\u65b9\u30fb\u52d5\u304d\u65b9\u306e\u6307\u5c0e\u3001\u5b66\u6821\u751f\u6d3b\u3067\u306e\u914d\u616e<\/li>\n\n\n\n<li><strong>\u3054\u5bb6\u65cf\u3078\u306e\u5fc3\u7406\u7684\u30fb\u793e\u4f1a\u7684\u652f\u63f4<\/strong>\u3068\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/li>\n\n\n<\/ul>\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<p class=\"wp-block-paragraph\">\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>PLOD2<\/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\u306e\u691c\u67fb\u3092\u3054\u7528\u610f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\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<p class=\"wp-block-paragraph\">\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>PLOD2<\/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<p class=\"wp-block-paragraph\">\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>\u304a\u5b50\u3055\u307e\u3054\u3068\u306b4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u691c\u67fb\u306e\u5185\u5bb9\u30fb\u8cbb\u7528\u30fb\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f <a href=\"\/nipt\/nipt\/carrier-screening-1200\/\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c81,200\uff0b\u306e\u30da\u30fc\u30b8<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>PLOD2<\/strong> \u306f\u30ea\u30b7\u30eb\u30d2\u30c9\u30ed\u30ad\u30b7\u30e9\u30fc\u30bc2\uff08LH2\uff09\u3092\u30b3\u30fc\u30c9\u3057\u3001<strong>I\u578b\u30b3\u30e9\u30fc\u30b2\u30f3\u306e\u30c6\u30ed\u30da\u30d7\u30c1\u30c9\u9818\u57df\u306e\u30ea\u30b7\u30f3\u6b8b\u57fa\u3092\u6c34\u9178\u5316\u3059\u308b<\/strong>\uff08\u30c6\u30ed\u30da\u30d7\u30c1\u30c9\u30fb\u30ea\u30b7\u30eb\u30d2\u30c9\u30ed\u30ad\u30b7\u30e9\u30fc\u30bc\uff09\u3002\u30c6\u30ed\u30da\u30d7\u30c1\u30c9\u306e\u30d2\u30c9\u30ed\u30ad\u30b7\u30ea\u30b7\u30f3\u306f\u3001\u9aa8\u306b\u7279\u5fb4\u7684\u306a\u30d2\u30c9\u30ed\u30ad\u30b7\u30ea\u30b7\u30eb\u30d4\u30ea\u30b8\u30ce\u30ea\u30f3\u578b\u306e\u6210\u719f\u67b6\u6a4b\u306e\u5f62\u6210\u306b\u5fc5\u9808\u3067\u3042\u308a\u3001<strong>LH2 \u306e\u6b20\u640d\u306b\u3088\u308a\u9aa8\u30b3\u30e9\u30fc\u30b2\u30f3\u306e\u30c6\u30ed\u30da\u30d7\u30c1\u30c9\u6c34\u9178\u5316\u304c\u4f4e\u4e0b\u3057\u3001\u67b6\u6a4b\u30d1\u30bf\u30fc\u30f3\u304c\u7570\u5e38\u3068\u306a\u308b<\/strong>\u3002\u4e00\u65b9\u3001\u3089\u305b\u3093\u9818\u57df\u306e\u30ea\u30b7\u30f3\u6c34\u9178\u5316\uff08\u4e3b\u306b LH1\u3001<em>PLOD1<\/em>\uff09\u306f\u4fdd\u305f\u308c\u308b\u3002\u30d6\u30eb\u30c3\u30af\u75c7\u5019\u7fa4\u3067\u306f\u9771\u5e2f\u3084\u8edf\u9aa8\u306e\u67b6\u6a4b\u306f\u6bd4\u8f03\u7684\u4fdd\u305f\u308c\u3001\u9aa8\u3067\u9078\u629e\u7684\u306b\u7570\u5e38\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>1\u578b\u306e\u539f\u56e0\u907a\u4f1d\u5b50 <em>FKBP10<\/em>\uff08FKBP65\uff09\u306f LH2 \u306e\u4e8c\u91cf\u4f53\u5316\u30fb\u6d3b\u6027\u5316\u306b\u95a2\u308f\u308b\u5206\u5b50\u30b7\u30e3\u30da\u30ed\u30f3\u3067\u3042\u308a\u3001\u4e21\u578b\u306f\u540c\u3058\u7d4c\u8def\uff08\u30c6\u30ed\u30da\u30d7\u30c1\u30c9\u6c34\u9178\u5316\uff09\u306e\u969c\u5bb3\u306b\u53ce\u675f\u3059\u308b<\/strong>\u3002\u3053\u306e\u305f\u3081\u81e8\u5e8a\u50cf\u306f\u307b\u307c\u91cd\u306a\u308a\u3001\u8868\u73fe\u578b\u304b\u3089\u306e\u578b\u306e\u533a\u5225\u306f\u56f0\u96e3\u3067\u3042\u308b\u3002<em>FKBP10<\/em> \u306f\u62d8\u7e2e\u3092\u4f34\u308f\u306a\u3044\u6f5c\u6027\u9aa8\u5f62\u6210\u4e0d\u5168\u75c7\uff08XI\u578b\uff09\u306e\u539f\u56e0\u306b\u3082\u306a\u308a\u3001<strong><em>PLOD2<\/em> \u3067\u3082\u62d8\u7e2e\u304c\u8efd\u5fae\u306a\u9aa8\u5f62\u6210\u4e0d\u5168\u75c7\u69d8\u306e\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u4e21\u907a\u4f1d\u5b50\u3068\u3082\u300c\u30d6\u30eb\u30c3\u30af\u75c7\u5019\u7fa4\u2014\u9aa8\u5f62\u6210\u4e0d\u5168\u75c7\u300d\u306e\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u3092\u5f62\u6210\u3059\u308b<\/strong>\u3002<em>PLOD2<\/em> \u306e\u75c5\u7684\u5909\u7570\u306f\u89e6\u5a92\u30c9\u30e1\u30a4\u30f3\u306e\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u304c\u591a\u3044\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u30d6\u30eb\u30c3\u30af\u75c7\u5019\u7fa41\u578b\uff08<em>FKBP10<\/em>\uff09\u3001<em>COL1A1<\/em>\uff0f<em>COL1A2<\/em> \u306b\u3088\u308b\u9aa8\u5f62\u6210\u4e0d\u5168\u75c7\uff08\u591a\u304f\u306f\u9855\u6027\u3001\u65b0\u751f\u7a81\u7136\u5909\u7570\u3092\u542b\u3080\uff09\u3001\u305d\u306e\u4ed6\u306e\u6f5c\u6027\u9aa8\u5f62\u6210\u4e0d\u5168\u75c7\uff08<em>CRTAP<\/em>\u3001<em>P3H1<\/em>\u3001<em>SERPINF1<\/em> \u306a\u3069\uff09\u3001\u9aa8\u6298\u3092\u4f34\u308f\u306a\u3044\u5148\u5929\u6027\u591a\u767a\u6027\u95a2\u7bc0\u62d8\u7e2e\u75c7\u304c\u6319\u304c\u308b\u3002<strong>\u9855\u6027\u306e\u9aa8\u5f62\u6210\u4e0d\u5168\u75c7\u3068\u306f\u6b21\u5b50\u518d\u767a\u7387\u304c\u5927\u304d\u304f\u7570\u306a\u308a\u3001\u307e\u305f <em>FKBP10<\/em> \u3068 <em>PLOD2<\/em> \u306e\u3069\u3061\u3089\u304b\u306b\u3088\u3063\u3066\u4fdd\u56e0\u8005\u691c\u67fb\u306e\u5bfe\u8c61\u907a\u4f1d\u5b50\u304c\u5909\u308f\u308b\u305f\u3081\u3001\u907a\u4f1d\u5b50\u8a3a\u65ad\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u76f4\u7d50\u3059\u308b\u3002<\/strong><\/p>\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n<h3 class=\"wp-block-heading\">Q. \u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u75c5\u6c17\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u305f\u3081\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u30ad\u30e3\u30ea\u30a2\u306e\u5834\u5408\u3001\u304a\u5b50\u3055\u307e\u3054\u3068\u306b4\u5206\u306e1\u306e\u78ba\u7387\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<\/strong>\u9aa8\u304c\u6298\u308c\u3084\u3059\u3044\u75c5\u6c17\u306b\u306f\u3001\u9855\u6027\u907a\u4f1d\u3084\u5076\u767a\u7684\u306b\u8d77\u3053\u308b\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\u306b\u3088\u308b\uff09\u3082\u306e\u3082\u591a\u304f\u3001\u518d\u767a\u7387\u306f\u305d\u308c\u305e\u308c\u7570\u306a\u308a\u307e\u3059\u3002<strong>\u6b63\u3057\u3044\u898b\u901a\u3057\u3092\u304a\u4f1d\u3048\u3059\u308b\u305f\u3081\u306b\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u78ba\u5b9a\u3059\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/strong><\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. 1\u578b\u30682\u578b\u306f\u4f55\u304c\u9055\u3046\u306e\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u9055\u3044\u306f\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/strong>1\u578b\u306f FKBP10 \u907a\u4f1d\u5b50\u30012\u578b\u306f PLOD2 \u907a\u4f1d\u5b50\u306e\u5909\u5316\u3067\u8d77\u3053\u308a\u307e\u3059\u30022\u3064\u306e\u907a\u4f1d\u5b50\u306f\u540c\u3058\u3057\u304f\u307f\uff08\u9aa8\u306e\u30b3\u30e9\u30fc\u30b2\u30f3\u306e\u7d50\u3073\u3064\u304d\uff09\u306b\u304b\u304b\u308f\u3063\u3066\u3044\u308b\u305f\u3081\u3001<strong>\u75c7\u72b6\u306f\u3088\u304f\u4f3c\u3066\u3044\u3066\u3001\u75c7\u72b6\u3060\u3051\u3067\u533a\u5225\u3059\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u3002<\/strong>\u3054\u5bb6\u65cf\u306e\u691c\u67fb\u3084\u6b21\u306e\u304a\u5b50\u3055\u307e\u306e\u691c\u67fb\u3092\u8003\u3048\u308b\u3046\u3048\u3067\u3001\u3069\u3061\u3089\u306e\u907a\u4f1d\u5b50\u304b\u3092\u77e5\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u598a\u5a20\u4e2d\u306b\u5206\u304b\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u95a2\u7bc0\u306e\u4f4d\u7f6e\u306e\u7570\u5e38\u3084\u52d5\u304d\u306e\u5c11\u306a\u3055\u304c\u898b\u3064\u304b\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u305d\u308c\u3060\u3051\u3067\u8a3a\u65ad\u3092\u3064\u3051\u308b\u3053\u3068\u306f\u96e3\u3057\u3044\u75c5\u6c17\u3067\u3059\u3002<\/strong>\u524d\u306e\u304a\u5b50\u3055\u307e\u3067\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u78ba\u5b9a\u3057\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u598a\u5a20\u4e2d\u306b\u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u691c\u67fb\u3092\u691c\u8a0e\u3067\u304d\u307e\u3059\u3002\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u6210\u9577\u3059\u308b\u3068\u3069\u3046\u306a\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u7d4c\u904e\u306b\u306f\u500b\u4eba\u5dee\u304c\u5927\u304d\u304f\u3001\u9aa8\u6298\u306e\u56de\u6570\u3084\u5074\u5f2f\u306e\u7a0b\u5ea6\u306b\u3088\u3063\u3066\u6b69\u304f\u529b\u3084\u751f\u6d3b\u306e\u69d8\u5b50\u304c\u5909\u308f\u308a\u307e\u3059\u3002<\/strong>\u77e5\u7684\u306a\u767a\u9054\u306b\u306f\u901a\u5e38\u5f71\u97ff\u304c\u306a\u3044\u3068\u3055\u308c\u3001\u9aa8\u3092\u5f37\u304f\u3059\u308b\u85ac\u3001\u624b\u8853\u3001\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3092\u7d44\u307f\u5408\u308f\u305b\u306a\u304c\u3089\u3001\u5b66\u6821\u751f\u6d3b\u3084\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u308b\u65b9\u3082\u3044\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u306f\u4f55\u3092\u76f8\u8ac7\u3067\u304d\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u8a3a\u65ad\u306e\u610f\u5473\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u3001\u51fa\u751f\u524d\u691c\u67fb\u3084\u7740\u5e8a\u524d\u691c\u67fb\u306e\u9078\u629e\u80a2\u3001\u3054\u304d\u3087\u3046\u3060\u3044\u3084\u3054\u89aa\u65cf\u3078\u306e\u5f71\u97ff\u306a\u3069\u3092\u3054\u76f8\u8ac7\u3044\u305f\u3060\u3051\u307e\u3059\u3002\u5224\u65ad\u3092\u6025\u304c\u305b\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n<ul class=\"wp-block-list\">\n<li>OMIM #609220 Bruck syndrome 2; BRKS2. Online Mendelian Inheritance in Man.<\/li>\n\n\n\n<li>Ha-Vinh R, Alanay Y, Bank RA, et al. Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2. <em>Am J Med Genet A<\/em>. 2004;131(2):115-120.<\/li>\n\n\n\n<li>Puig-Herv\u00e1s MT, Temtamy S, Aglan M, et al. Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome\u2014osteogenesis imperfecta phenotypic spectrum. <em>Hum Mutat<\/em>. 2012;33(10):1444-1449.<\/li>\n\n\n\n<li>van der Slot AJ, Zuurmond AM, Bardoel AF, et al. Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis. <em>J Biol Chem<\/em>. 2003;278(42):40967-40972.<\/li>\n\n\n\n<li>Bank RA, Robins SP, Wijmenga C, et al. Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17. <em>Proc Natl Acad Sci U S A<\/em>. 1999;96(3):1054-1058.<\/li>\n\n\n\n<li>Kelley BP, Malfait F, Bonafe L, et al. Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. <em>J Bone Miner Res<\/em>. 2011;26(3):666-672.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-147748","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\/147748","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":0,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/147748\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147748"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}