{"id":59527,"date":"2023-08-14T10:46:51","date_gmt":"2023-08-14T01:46:51","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=59527"},"modified":"2026-05-08T13:20:59","modified_gmt":"2026-05-08T04:20:59","slug":"retinitis-pigmentosa-26","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/retinitis-pigmentosa-26\/","title":{"rendered":"\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7 26"},"content":{"rendered":"\n<div style=\"height:30px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><sup>\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c726\u578b\uff08RP26\uff09\u306f\u3001CERKL\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u907a\u4f1d\u6027\u306e\u7db2\u819c\u75be\u60a3\u3067\u3059\u3002CERKL\u306f\u5149\u53d7\u5bb9\u4f53\u3092\u9178\u5316\u30b9\u30c8\u30ec\u30b9\u304b\u3089\u4fdd\u8b77\u3059\u308b\u5f79\u5272\u3092\u6301\u3061\u3001\u7d30\u80de\u6b7b\u306e\u6291\u5236\u306b\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001RP26\u306e\u539f\u56e0\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u73fe\u5728\u306e\u6cbb\u7642\u6cd5\u3001\u305d\u3057\u3066\u5c06\u6765\u7684\u306a\u7814\u7a76\u306e\u5c55\u671b\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u907a\u4f1d\u5b50\u30fb\u75be\u60a3\u540d<\/h2>\n\n\n\n<p>CERKL\uff5cRetinitis Pigmentosa 26<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c726\u578b\uff08Retinitis Pigmentosa 26, RP26\uff09\u306f\u3001\u907a\u4f1d\u6027\u306e\u7db2\u819c\u75be\u60a3\u3067\u3042\u308a\u3001<em>CERKL<\/em>\uff08\u30bb\u30e9\u30df\u30c9\u30ad\u30ca\u30fc\u30bc\u69d8\uff09\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3002<em>CERKL<\/em>\u306f\u3001\u5f53\u521d\u30bb\u30e9\u30df\u30c9\u4ee3\u8b1d\u306b\u95a2\u4e0e\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u305f\u304c\u3001\u8fd1\u5e74\u306e\u7814\u7a76\u306b\u3088\u308a\u3001\u30bb\u30e9\u30df\u30c9\u3092\u30ea\u30f3\u9178\u5316\u3057\u3066\u30bb\u30e9\u30df\u30c9-1-\u30ea\u30f3\u9178\uff08C1P\uff09\u3092\u751f\u6210\u3059\u308b\u6a5f\u80fd\u306f\u6301\u305f\u306a\u3044\u3053\u3068\u304c\u660e\u3089\u304b\u306b\u306a\u3063\u305f\u3002\u3053\u308c\u306f\u3001\u30bb\u30e9\u30df\u30c9\u30ad\u30ca\u30fc\u30bc\uff08CERK\uff09\u3068\u306e\u5927\u304d\u306a\u9055\u3044\u3067\u3042\u308b\u3002\u4ee3\u308f\u308a\u306b\u3001<em>CERKL<\/em>\u306f\u7db2\u819c\u306e\u5149\u53d7\u5bb9\u4f53\u3092\u9178\u5316\u30b9\u30c8\u30ec\u30b9\u304b\u3089\u4fdd\u8b77\u3059\u308b\u5f79\u5272\u3092\u6301\u3064\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u3002\u3053\u306e\u6297\u9178\u5316\u4f5c\u7528\u306f\u3001\u7d30\u80de\u5185\u306e\u6d3b\u6027\u9178\u7d20\u7a2e\uff08Reactive Oxygen Species, ROS\uff09\u306e\u8abf\u7bc0\u3092\u901a\u3058\u3066\u3001\u7d30\u80de\u306e\u751f\u5b58\u3092\u4fc3\u9032\u3059\u308b\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>RP26\u306e\u4e3b\u306a\u7279\u5fb4\u306f\u3001\u591c\u76f2\uff08\u6697\u3044\u5834\u6240\u3067\u306e\u8996\u529b\u4f4e\u4e0b\uff09\u3001\u8996\u91ce\u72ed\u7a84\uff08\u5468\u8fba\u8996\u91ce\u306e\u55aa\u5931\uff09\u3001\u9032\u884c\u6027\u306e\u7db2\u819c\u5909\u6027\u3067\u3042\u308a\u3001\u6700\u7d42\u7684\u306b\u306f\u5931\u660e\u306b\u81f3\u308b\u3053\u3068\u304c\u591a\u3044\u3002<em>CERKL<\/em>\u306e\u5909\u7570\u306f\u6bd4\u8f03\u7684\u307e\u308c\u3067\u3042\u308b\u3082\u306e\u306e\u3001\u907a\u4f1d\u6027\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08Inherited Retinal Dystrophy, IRD\uff09\u306e\u4e2d\u3067\u91cd\u8981\u306a\u4f4d\u7f6e\u3092\u5360\u3081\u308b\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7\uff08RP\uff09\u306f\u3001\u907a\u4f1d\u6027\u306e\u7db2\u819c\u75be\u60a3\u306e\u4e2d\u3067\u6700\u3082\u4e00\u822c\u7684\u306a\u3082\u306e\u306e\u4e00\u3064\u3067\u3042\u308a\u3001\u4e16\u754c\u4e2d\u3067\u7d04150\u4e07\u4eba\u304c\u7f79\u60a3\u3057\u3066\u3044\u308b\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u308b\u3002RP\u306f\u975e\u5e38\u306b\u907a\u4f1d\u7684\u591a\u69d8\u6027\u304c\u9ad8\u304f\u3001\u73fe\u5728\u307e\u3067\u306b39\u4ee5\u4e0a\u306e\u95a2\u9023\u907a\u4f1d\u5b50\u304c\u7279\u5b9a\u3055\u308c\u3066\u3044\u308b\u304c\u3001\u672a\u89e3\u660e\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3082\u591a\u6570\u5b58\u5728\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>RP26\u306f\u3001\u6700\u521d\u306b2\u756a\u67d3\u8272\u4f53\u306eq31.2-q32\u9818\u57df\u306b\u95a2\u9023\u4ed8\u3051\u3089\u308c\u305f\u3002\u305d\u306e\u5f8c\u306e\u907a\u4f1d\u5b50\u89e3\u6790\u306b\u3088\u308a\u3001\u3053\u306e\u9818\u57df\u306b\u4f4d\u7f6e\u3059\u308b<em>CERKL<\/em>\u304c\u539f\u56e0\u907a\u4f1d\u5b50\u3067\u3042\u308b\u3053\u3068\u304c\u5224\u660e\u3057\u305f\u3002\u30b9\u30da\u30a4\u30f3\u306e\u5bb6\u7cfb\u3092\u5bfe\u8c61\u3068\u3057\u305f\u7814\u7a76\u3067\u306f\u3001<em>CERKL<\/em>\u306e\u5909\u7570\u304c\u5e38\u67d3\u8272\u4f53\u52a3\u6027RP\uff08arRP\uff09\u306e\u7d043\uff5e4\uff05\u3092\u5360\u3081\u308b\u3053\u3068\u304c\u78ba\u8a8d\u3055\u308c\u3066\u304a\u308a\u3001<em>PDE6B<\/em>\u3001<em>TULP1<\/em>\u3001<em>ABCA4<\/em>\u306a\u3069\u306e\u4ed6\u306earRP\u95a2\u9023\u907a\u4f1d\u5b50\u3068\u540c\u7a0b\u5ea6\u306e\u5272\u5408\u3067\u3042\u308b\u3053\u3068\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p><em>CERKL<\/em>\u95a2\u9023RP26\u306e\u4e16\u754c\u7684\u306a\u6709\u75c5\u7387\u306f\u4e0d\u660e\u3060\u304c\u3001\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6297\u9178\u5316\u4f5c\u7528\u3092\u8003\u616e\u3059\u308b\u3068\u3001\u7db2\u819c\u75be\u60a3\u306e\u307f\u306a\u3089\u305a\u3001\u4ed6\u306e\u795e\u7d4c\u5909\u6027\u75be\u60a3\u306b\u3082\u95a2\u9023\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p><em>CERKL<\/em>\u907a\u4f1d\u5b50\u306f\u30bb\u30e9\u30df\u30c9\u30ad\u30ca\u30fc\u30bc\u69d8\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u308b\u304c\u3001\u5f53\u521d\u8003\u3048\u3089\u308c\u3066\u3044\u305f\u3088\u3046\u306b\u30bb\u30e9\u30df\u30c9\u4ee3\u8b1d\u306b\u76f4\u63a5\u95a2\u4e0e\u3057\u3066\u3044\u308b\u308f\u3051\u3067\u306f\u306a\u3044\u3002\u30bb\u30e9\u30df\u30c9\u30ad\u30ca\u30fc\u30bc\uff08CERK\uff09\u306f\u30bb\u30e9\u30df\u30c9\u3092\u30ea\u30f3\u9178\u5316\u3057\u3001\u30bb\u30e9\u30df\u30c9-1-\u30ea\u30f3\u9178\uff08C1P\uff09\u3092\u751f\u6210\u3059\u308b\u304c\u3001<em>CERKL<\/em>\u306f\u3053\u306e\u30d7\u30ed\u30bb\u30b9\u306b\u95a2\u4e0e\u3057\u306a\u3044\u3053\u3068\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u4ee3\u308f\u308a\u306b\u3001<em>CERKL<\/em>\u306f\u7d30\u80de\u5185\u306e\u9178\u5316\u30b9\u30c8\u30ec\u30b9\u3092\u8abf\u7bc0\u3059\u308b\u5f79\u5272\u3092\u6301\u3061\u3001\u7279\u306b\u5149\u53d7\u5bb9\u4f53\u7d30\u80de\u306b\u304a\u3044\u3066\u6297\u9178\u5316\u6a5f\u80fd\u3092\u767a\u63ee\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u3002\u9178\u5316\u30b9\u30c8\u30ec\u30b9\u306f\u3001\u6d3b\u6027\u9178\u7d20\u7a2e\uff08ROS\uff09\u306e\u904e\u5270\u306a\u84c4\u7a4d\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u3001\u7d30\u80de\u6b7b\uff08\u30a2\u30dd\u30c8\u30fc\u30b7\u30b9\uff09\u306e\u4e3b\u8981\u306a\u8981\u56e0\u306e\u4e00\u3064\u3067\u3042\u308b\u3002<em>CERKL<\/em>\u306e\u6a5f\u80fd\u304c\u5931\u308f\u308c\u308b\u3068\u3001\u5149\u53d7\u5bb9\u4f53\u7d30\u80de\u304c\u9178\u5316\u30c0\u30e1\u30fc\u30b8\u306b\u5bfe\u3057\u3066\u8106\u5f31\u306b\u306a\u308a\u3001\u7d50\u679c\u3068\u3057\u3066\u7d30\u80de\u6b7b\u304c\u4fc3\u9032\u3055\u308c\u308b\u3002\u3053\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u304c\u3001RP26\u306b\u304a\u3051\u308b\u9032\u884c\u6027\u306e\u8996\u529b\u55aa\u5931\u306e\u539f\u56e0\u3067\u3042\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>RP26\u306e\u81e8\u5e8a\u7d4c\u904e\u306f\u3001\u4ed6\u306e\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7\u3068\u540c\u69d8\u306b\u9032\u884c\u6027\u3067\u3042\u308a\u3001\u75c7\u72b6\u306f\u6642\u9593\u306e\u7d4c\u904e\u3068\u3068\u3082\u306b\u60aa\u5316\u3059\u308b\u3002<\/p>\n\n\n\n<p>\u521d\u671f\u306e\u6bb5\u968e\u3067\u306f\u3001\u591c\u76f2\u304c\u6700\u3082\u9855\u8457\u306a\u75c7\u72b6\u3068\u3057\u3066\u73fe\u308c\u308b\u3002\u6697\u3044\u5834\u6240\u3067\u306e\u8996\u529b\u304c\u4f4e\u4e0b\u3057\u3001\u7279\u306b\u8584\u6697\u3044\u74b0\u5883\u3067\u306f\u8996\u754c\u304c\u8457\u3057\u304f\u5236\u9650\u3055\u308c\u308b\u3002\u3053\u306e\u6642\u70b9\u3067\u306f\u3001\u4e2d\u5fc3\u8996\u529b\u306f\u307b\u307c\u6b63\u5e38\u306b\u4fdd\u305f\u308c\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u3044\u3002<\/p>\n\n\n\n<p>\u75c5\u6c17\u304c\u9032\u884c\u3059\u308b\u3068\u3001\u8996\u91ce\u72ed\u7a84\u304c\u751f\u3058\u3001\u5468\u8fba\u8996\u91ce\u304c\u5f90\u3005\u306b\u5931\u308f\u308c\u3066\u3044\u304f\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u8996\u754c\u304c\u300c\u30c8\u30f3\u30cd\u30eb\u8996\u91ce\u300d\u3068\u547c\u3070\u308c\u308b\u72b6\u614b\u306b\u306a\u308a\u3001\u7269\u306e\u898b\u3048\u65b9\u304c\u6975\u7aef\u306b\u72ed\u307e\u308b\u3002\u307e\u305f\u3001\u30b3\u30f3\u30c8\u30e9\u30b9\u30c8\u611f\u5ea6\u306e\u4f4e\u4e0b\u3084\u3001\u5149\u306b\u5bfe\u3059\u308b\u904e\u654f\u75c7\uff08\u30d5\u30a9\u30c8\u30d5\u30a9\u30d3\u30a2\uff09\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u672b\u671f\u306b\u306a\u308b\u3068\u3001\u7db2\u819c\u306e\u8996\u7d30\u80de\u304c\u307b\u307c\u5b8c\u5168\u306b\u5931\u308f\u308c\u3001\u4e2d\u5fc3\u8996\u529b\u3082\u5927\u5e45\u306b\u4f4e\u4e0b\u3059\u308b\u3002\u6700\u7d42\u7684\u306b\u306f\u5931\u660e\u306b\u81f3\u308b\u3053\u3068\u304c\u591a\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n\n\n\n<p>RP26\u306e\u8a3a\u65ad\u306b\u306f\u3001\u81e8\u5e8a\u8a55\u4fa1\u3001\u7db2\u819c\u753b\u50cf\u691c\u67fb\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u7d44\u307f\u5408\u308f\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<p>\u773c\u5e95\u691c\u67fb\u3067\u306f\u3001\u7db2\u819c\u306b\u7279\u5fb4\u7684\u306a\u9aa8\u5c0f\u4f53\u69d8\u8272\u7d20\u6c88\u7740\u304c\u78ba\u8a8d\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u7db2\u819c\u8840\u7ba1\u306e\u7d30\u5316\u3084\u8996\u795e\u7d4c\u306e\u840e\u7e2e\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308b\u3002\u8996\u91ce\u691c\u67fb\u3067\u306f\u3001\u5468\u8fba\u8996\u91ce\u306e\u55aa\u5931\u304c\u660e\u3089\u304b\u306b\u306a\u308a\u3001\u9032\u884c\u306e\u7a0b\u5ea6\u3092\u8a55\u4fa1\u3067\u304d\u308b\u3002<\/p>\n\n\n\n<p>\u7db2\u819c\u96fb\u56f3\uff08ERG\uff09\u3067\u306f\u3001\u687f\u4f53\u304a\u3088\u3073\u9310\u4f53\u7d30\u80de\u306e\u53cd\u5fdc\u304c\u5927\u5e45\u306b\u4f4e\u4e0b\u307e\u305f\u306f\u6d88\u5931\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u78ba\u8a8d\u3055\u308c\u308b\u3002\u5149\u5e72\u6e09\u65ad\u5c64\u8a08\uff08OCT\uff09\u3067\u306f\u3001\u7db2\u819c\u306e\u83f2\u8584\u5316\u3084\u5149\u53d7\u5bb9\u4f53\u5c64\u306e\u6d88\u5931\u304c\u89b3\u5bdf\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u3063\u3066\u3001<em>CERKL<\/em>\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u7279\u5b9a\u3059\u308b\u3053\u3068\u3067\u3001\u78ba\u5b9a\u8a3a\u65ad\u304c\u53ef\u80fd\u3068\u306a\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<p>\u73fe\u5728\u306e\u3068\u3053\u308d\u3001RP26\u306e\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3055\u308c\u3066\u304a\u3089\u305a\u3001\u75be\u60a3\u306e\u9032\u884c\u3092\u9045\u3089\u305b\u308b\u3053\u3068\u3092\u76ee\u7684\u3068\u3057\u305f\u5bfe\u75c7\u7642\u6cd5\u304c\u4e2d\u5fc3\u3068\u306a\u308b\u3002<\/p>\n\n\n\n<p>\u4f4e\u8996\u529b\u88dc\u52a9\u5177\uff08\u30eb\u30fc\u30da\u3084\u30b9\u30af\u30ea\u30fc\u30f3\u30ea\u30fc\u30c0\u30fc\uff09\u3084\u8996\u899a\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u306f\u3001\u60a3\u8005\u306e\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u306e\u306b\u5f79\u7acb\u3064\u3002\u307e\u305f\u3001\u6297\u9178\u5316\u4f5c\u7528\u3092\u6301\u3064\u98df\u54c1\uff08\u30eb\u30c6\u30a4\u30f3\u3001\u30bc\u30a2\u30ad\u30b5\u30f3\u30c1\u30f3\u3001\u30aa\u30e1\u30ac3\u8102\u80aa\u9178\u3092\u542b\u3080\u98df\u54c1\uff09\u306e\u6442\u53d6\u304c\u3001\u5149\u53d7\u5bb9\u4f53\u306e\u4fdd\u8b77\u306b\u6709\u52b9\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>\u7814\u7a76\u6bb5\u968e\u3067\u306f\u3042\u308b\u304c\u3001\u907a\u4f1d\u5b50\u6cbb\u7642\u3084\u5e79\u7d30\u80de\u6cbb\u7642\u3001\u9178\u5316\u30b9\u30c8\u30ec\u30b9\u8abf\u7bc0\u3092\u6a19\u7684\u3068\u3057\u305f\u85ac\u5264\u958b\u767a\u304c\u9032\u3081\u3089\u308c\u3066\u3044\u308b\u3002\u7db2\u819c\u79fb\u690d\u3084\u4eba\u5de5\u7db2\u819c\u306e\u9069\u7528\u3082\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3067\u691c\u8a0e\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>RP26\u306f\u9032\u884c\u6027\u306e\u75be\u60a3\u3067\u3042\u308a\u3001\u6642\u9593\u306e\u7d4c\u904e\u3068\u3068\u3082\u306b\u91cd\u5ea6\u306e\u8996\u899a\u969c\u5bb3\u3084\u5931\u660e\u306b\u81f3\u308b\u3053\u3068\u304c\u591a\u3044\u3002<\/p>\n\n\n\n<p>\u75c5\u6c17\u306e\u9032\u884c\u901f\u5ea6\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308b\u304c\u3001\u591a\u304f\u306e\u60a3\u8005\u306f\u4e2d\u5e74\u671f\u307e\u3067\u306b\u8996\u91ce\u306e\u5927\u90e8\u5206\u3092\u5931\u3046\u3002\u7279\u306b\u3001<em>CERKL<\/em>\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u55aa\u5931\u304c\u9178\u5316\u30b9\u30c8\u30ec\u30b9\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u305f\u3081\u3001\u5c06\u6765\u7684\u306b\u6297\u9178\u5316\u6cbb\u7642\u304c\u6709\u52b9\u306a\u6cbb\u7642\u6cd5\u3068\u306a\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3002\u73fe\u5728\u3082\u7814\u7a76\u304c\u9032\u3081\u3089\u308c\u3066\u304a\u308a\u3001\u5c06\u6765\u7684\u306a\u6cbb\u7642\u6cd5\u306e\u958b\u767a\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<div class=\"wp-block-group references\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h2 class=\"wp-block-heading\">\u5f15\u7528\u6587\u732e\uff5cReferences<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1007\/s13205-023-03535-w\">Fu, S., Fu, J., Mobasher-Jannat, A. <em>et al.<\/em> Novel pathogenic <em>CERKL<\/em> variant in Iranian familial with inherited retinal dystrophies: genotype\u2013phenotype correlation. <em>3 Biotech<\/em> <strong>13<\/strong>, 166 (2023). https:\/\/doi.org\/10.1007\/s13205-023-03535-w<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.bbalip.2008.01.004\">Sabourdy, F., Kedjouar, B., Sorli, S. C., Coli\u00e9, S., Milhas, D., Salma, Y., &amp; Levade, T. (2008). Functions of sphingolipid metabolism in mammals\u2014Lessons from genetic defects.&nbsp;<em>Biochimica et Biophysica Acta (BBA) &#8211; Molecular and Cell Biology of Lipids<\/em>,&nbsp;<em>1781<\/em>(4), 145\u2013183. https:\/\/doi.org\/10.1016\/j.bbalip.2008.01.004<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1086\/381055\">Tuson, M., Marfany, G., &amp; Gonz\u00e0lez-Duarte, R. (2004). Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26). <em>American journal of human genetics<\/em>, <em>74<\/em>(1), 128\u2013138. https:\/\/doi.org\/10.1086\/381055<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/s12276-024-01203-4\">Dong, W., Li, Q., Lu, X. <em>et al.<\/em> Ceramide kinase-mediated C1P metabolism attenuates acute liver injury by inhibiting the interaction between KEAP1 and NRF2. <em>Exp Mol Med<\/em> <strong>56<\/strong>, 946\u2013958 (2024). https:\/\/doi.org\/10.1038\/s12276-024-01203-4<\/a><\/li>\n<\/ul>\n<\/div><\/div>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-59527","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\/59527","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":11,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/59527\/revisions"}],"predecessor-version":[{"id":128098,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/59527\/revisions\/128098"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=59527"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}