{"id":33786,"date":"2022-07-12T13:35:48","date_gmt":"2022-07-12T04:35:48","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33786"},"modified":"2026-04-28T13:54:58","modified_gmt":"2026-04-28T04:54:58","slug":"junctional-epidermolysis-bullosa-herlitz-type","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/junctional-epidermolysis-bullosa-herlitz-type\/","title":{"rendered":"\u63a5\u5408\u90e8\u578b\u8868\u76ae\u6c34\u75b1\u75c7(\u30d8\u30eb\u30ea\u30c3\u30c4\u578b)"},"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>\u63a5\u5408\u90e8\u578b\u8868\u76ae\u6c34\u75b1\u75c7\uff08Junctional Epidermolysis Bullosa, JEB\uff09\u306e\u4e2d\u3067\u3082\u3001\u30d8\u30eb\u30ea\u30c3\u30c4\u578b\uff08JEB-H\uff09\u306f\u6700\u3082\u91cd\u75c7\u3067\u3001LAMC2\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u4e3b\u306a\u539f\u56e0\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002LAMC2\u306f\u30e9\u30df\u30cb\u30f3332\u3068\u3044\u3046\u57fa\u5e95\u819c\u306e\u4e3b\u8981\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u76ae\u819a\u3068\u7c98\u819c\u306e\u69cb\u9020\u3092\u7dad\u6301\u3059\u308b\u5f79\u5272\u3092\u62c5\u3044\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001LAMC2\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304cJEB-H\u306b\u4e0e\u3048\u308b\u5f71\u97ff\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u73fe\u5728\u7814\u7a76\u304c\u9032\u3081\u3089\u308c\u3066\u3044\u308b\u6cbb\u7642\u6cd5\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>LAMC2\uff5cJunctional Epidermolysis Bullosa (Herlitz type)<\/p>\n\n\n\n<p><sup>Epidermolysis Bullosa, Junctional 3b, Severe<a href=\"https:\/\/omim.org\/entry\/619786\" target=\"_blank\" rel=\"noreferrer noopener\"><\/a><\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u63a5\u5408\u90e8\u578b\u8868\u76ae\u6c34\u75b1\u75c7\uff08Junctional Epidermolysis Bullosa\u3001\u7565\u79f0JEB\uff09\u3001\u7279\u306b\u30d8\u30eb\u30ea\u30c3\u30c4\u578b\uff08JEB-H\uff09\u306f\u3001\u6975\u3081\u3066\u307e\u308c\u3067\u91cd\u7be4\u306a<strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d<\/strong>\u306e\u75be\u60a3\u3067\u3042\u308a\u3001\u76ae\u819a\u306e\u6975\u7aef\u306a\u8106\u5f31\u6027\u3068\u6c34\u75b1\u5f62\u6210\u3092\u7279\u5fb4\u3068\u3057\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f<strong>LAMC2\u3001LAMA3\u3001LAMB3<\/strong>\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u306f\u300c\u30e9\u30df\u30cb\u30f3332\u300d\u3068\u547c\u3070\u308c\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308a\u51fa\u3057\u3001\u76ae\u819a\u306e\u57fa\u5e95\u819c\u306e\u69cb\u9020\u3092\u7dad\u6301\u3057\u3001\u8868\u76ae\u3068\u771f\u76ae\u306e\u63a5\u7740\u3092\u5b89\u5b9a\u3055\u305b\u308b\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u751f\u3058\u308b\u3068\u3001\u30e9\u30df\u30cb\u30f3332\u306e\u7523\u751f\u304c\u640d\u306a\u308f\u308c\u3001\u76ae\u819a\u306e\u7d50\u5408\u304c\u5f31\u307e\u308a\u3001\u308f\u305a\u304b\u306a\u523a\u6fc0\u3067\u3082\u6c34\u75b1\u3084\u3073\u3089\u3093\u304c\u767a\u751f\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>JEB-H\u306f\u751f\u307e\u308c\u305f\u76f4\u5f8c\u304b\u3089\u5e83\u7bc4\u56f2\u306e\u6c34\u75b1\u5f62\u6210\u304c\u307f\u3089\u308c\u3001\u7c98\u819c\u306b\u3082\u5f37\u304f\u5f71\u97ff\u3092\u53ca\u307c\u3059\u305f\u3081\u3001\u6442\u98df\u56f0\u96e3\u3084\u547c\u5438\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u304f\u306a\u308a\u307e\u3059\u3002\u6b7b\u4ea1\u7387\u304c\u975e\u5e38\u306b\u9ad8\u304f\u3001\u591a\u304f\u306e\u60a3\u5150\u306f\u6557\u8840\u75c7\uff08\u5168\u8eab\u611f\u67d3\u75c7\uff09\u3001\u6804\u990a\u5931\u8abf\u3001\u307e\u305f\u306f\u6c17\u9053\u9589\u585e\u306b\u3088\u3063\u3066\u751f\u5f8c\u6570\u304b\u6708\u304b\u30892\u5e74\u4ee5\u5185\u306b\u547d\u3092\u843d\u3068\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>JEB\u306f\u8868\u76ae\u6c34\u75b1\u75c7\uff08Epidermolysis Bullosa\u3001EB\uff09\u306e\u4e2d\u3067\u3082\u6bd4\u8f03\u7684\u307e\u308c\u306a\u578b\u3067\u3042\u308a\u3001<strong>\u7c73\u56fd\u3067\u306f\u5168JEB\u75c7\u4f8b\u306e\u7d0420\uff05\u3092\u5360\u3081\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u4e16\u754c\u7684\u306aJEB\u306e\u767a\u75c7\u7387\u306f\u51fa\u751f100\u4e07\u4f8b\u3042\u305f\u308a0.5\uff5e2\u4f8b<\/strong>\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002JEB\u306f<strong>\u5e38\u67d3\u8272\u4f53\u52a3\u6027<\/strong>\u306e\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308b\u305f\u3081\u3001\u4e21\u89aa\u3068\u3082\u306bLAMC2\u3001LAMA3\u3001\u307e\u305f\u306fLAMB3\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u30921\u3064\u305a\u3064\u6301\u3064\u300c\u4fdd\u56e0\u8005\u300d\u3067\u3042\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002\u7279\u306b<strong>\u8840\u7e01\u5a5a<\/strong>\u304c\u591a\u3044\u96c6\u56e3\u3067\u306fJEB-H\u306e\u767a\u75c7\u30ea\u30b9\u30af\u304c\u9ad8\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>JEB-H\u306e\u4e3b\u306a\u539f\u56e0\u306f\u3001LAMC2\u3001LAMA3\u3001LAMB3\u907a\u4f1d\u5b50\u306b\u304a\u3051\u308b\u4e21\u30a2\u30ec\u30eb\u306e\u6a5f\u80fd\u55aa\u5931\u578b\u5909\u7570\uff08biallelic loss-of-function mutation\uff09\u3067\u3059\u3002\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u306f\u3001\u76ae\u819a\u306e\u57fa\u5e95\u819c\u306b\u5b58\u5728\u3059\u308b\u30e9\u30df\u30cb\u30f3332\u306e3\u3064\u306e\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\uff08\u03b13\u3001\u03b23\u3001\u03b32\uff09\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002\u5909\u7570\u306b\u3088\u3063\u3066\u30e9\u30df\u30cb\u30f3332\u304c\u6b63\u3057\u304f\u4f5c\u3089\u308c\u306a\u304f\u306a\u308b\u3068\u3001\u76ae\u819a\u306e\u8868\u76ae\u3068\u771f\u76ae\u306e\u7d50\u5408\u304c\u4e0d\u5b89\u5b9a\u306b\u306a\u308a\u3001\u6c34\u75b1\u304c\u5f62\u6210\u3055\u308c\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>JEB-H\u306e\u60a3\u8005\u3067\u306f\u3001\u7279\u306b<strong>LAMC2\u907a\u4f1d\u5b50<\/strong>\u306b\u591a\u304f\u306e\u5909\u7570\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u5909\u7570\u306e\u7a2e\u985e\u3068\u3057\u3066\u306f\u3001<strong>\u30ca\u30f3\u30bb\u30f3\u30b9\u5909\u7570\uff08\u65e9\u671f\u7d42\u6b62\u30b3\u30c9\u30f3\u5909\u7570\uff09\u3001\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u6b20\u5931\u3001\u5927\u898f\u6a21\u306a\u30a8\u30af\u30bd\u30f3\u6b20\u5931<\/strong>\u306a\u3069\u304c\u3042\u308a\u3001\u3053\u308c\u3089\u304c\u30e9\u30df\u30cb\u30f3332\u306e\u6a5f\u80fd\u3092\u5b8c\u5168\u306b\u5931\u308f\u305b\u308b\u8981\u56e0\u3068\u306a\u308a\u307e\u3059\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>JEB-H\u306e\u75c7\u72b6\u306f\u3001\u751f\u5f8c\u3059\u3050\u306b\u73fe\u308c\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e83\u7bc4\u56f2\u306e\u6c34\u75b1\u3068\u3073\u3089\u3093<\/strong>\uff1a\u8efd\u3044\u523a\u6fc0\u3067\u3082\u76ae\u819a\u304c\u5265\u304c\u308c\u3001\u5927\u304d\u306a\u3073\u3089\u3093\u304c\u5f62\u6210\u3055\u308c\u308b<\/li>\n\n\n\n<li><strong>\u904e\u5270\u306a\u8089\u82bd\u7d44\u7e54\u306e\u5f62\u6210<\/strong>\uff1a\u53e3\u306e\u5468\u56f2\u3001\u9f3b\u8154\u3001\u56db\u80a2\u306b\u9855\u8457<\/li>\n\n\n\n<li><strong>\u7c98\u819c\u306e\u640d\u50b7<\/strong>\uff1a\u53e3\u8154\u5185\u3084\u98df\u9053\u306b\u3082\u5f71\u97ff\u3057\u3001\u6442\u98df\u56f0\u96e3\u3084\u6804\u990a\u4e0d\u826f\u3092\u5f15\u304d\u8d77\u3053\u3059<\/li>\n\n\n\n<li><strong>\u722a\u306e\u5909\u5f62\uff08\u722a\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff09\u3001\u8131\u6bdb\uff08\u7121\u6bdb\u75c7\uff09\u3001\u6307\u8dbe\u306e\u7652\u5408\uff08\u4eee\u6027\u5408\u6307\u75c7\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u6b6f\u306e\u30a8\u30ca\u30e1\u30eb\u8cea\u5f62\u6210\u4e0d\u5168<\/strong>\uff1a\u866b\u6b6f\u306b\u306a\u308a\u3084\u3059\u3044<\/li>\n\n\n\n<li><strong>\u89d2\u819c\u3073\u3089\u3093\u3068\u7d50\u819c\u7622\u75d5<\/strong>\uff1a\u8996\u529b\u4f4e\u4e0b\u306e\u539f\u56e0\u3068\u306a\u308b<\/li>\n\n\n\n<li><strong>\u6c17\u9053\u5408\u4f75\u75c7<\/strong>\uff1a\u5589\u982d\u72ed\u7a84\u3092\u4f34\u3044\u3001\u547c\u5438\u56f0\u96e3\u3092\u5f15\u304d\u8d77\u3053\u3059<\/li>\n\n\n\n<li><strong>\u6210\u9577\u4e0d\u826f\u3068\u91cd\u5ea6\u306e\u8ca7\u8840<\/strong><\/li>\n<\/ul>\n\n\n\n<p>\u7279\u306b\u81f4\u547d\u7684\u306a\u5408\u4f75\u75c7\u3068\u3057\u3066\u3001<strong>\u6557\u8840\u75c7\u3001\u6804\u990a\u5931\u8abf\u3001\u547c\u5438\u4e0d\u5168\u3001\u6c17\u9053\u9589\u585e<\/strong>\u304c\u3042\u308a\u30016\u6b73\u307e\u3067\u306b<strong>40\uff05\u306e\u78ba\u7387\u3067\u5589\u982d\u72ed\u7a84\u3092\u767a\u75c7<\/strong>\u3059\u308b\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\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>JEB-H\u306e\u8a3a\u65ad\u306b\u306f\u3001\u4ee5\u4e0b\u306e\u691c\u67fb\u304c\u7528\u3044\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u76ae\u819a\u751f\u691c\u3068\u514d\u75ab\u86cd\u5149\u67d3\u8272<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u57fa\u5e95\u819c\u306e<strong>\u30e9\u30df\u30cb\u30f3332\u304c\u6b20\u640d\u307e\u305f\u306f\u6e1b\u5c11<\/strong>\u3057\u3066\u3044\u308b\u304b\u3092\u78ba\u8a8d<\/li>\n\n\n\n<li>\u76ae\u819a\u306e\u6c34\u75b1\u304c<strong>\u57fa\u5e95\u819c\u306e\u30e9\u30df\u30ca\u30eb\u30b7\u30c0\uff08lamina lucida\uff09\u3067\u767a\u751f<\/strong>\u3057\u3066\u3044\u308b\u304b\u3092\u8a55\u4fa1<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u900f\u904e\u578b\u96fb\u5b50\u9855\u5fae\u93e1\uff08TEM\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8868\u76ae\u3068\u771f\u76ae\u306e\u63a5\u5408\u90e8\u306b\u3042\u308b<strong>\u534a\u30c7\u30b9\u30e2\u30bd\u30fc\u30e0\u306e\u6e1b\u5c11\u307e\u305f\u306f\u6b20\u640d<\/strong>\u3092\u78ba\u8a8d<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u691c\u67fb<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>LAMC2\u3001LAMA3\u3001LAMB3<\/strong>\u306e\u5909\u7570\u3092\u89e3\u6790<\/li>\n\n\n\n<li>\u30b9\u30d7\u30e9\u30a4\u30b9\u90e8\u4f4d\u306e\u5909\u7570\u306f\u30b3\u30f3\u30d4\u30e5\u30fc\u30bf\u4e88\u6e2c\u30c4\u30fc\u30eb\uff08SpliceAI\u306a\u3069\uff09\u3067\u89e3\u6790<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a><\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u7d68\u6bdb\u63a1\u53d6\uff08CVS\uff09\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a><\/strong>\u306b\u3088\u308b\u907a\u4f1d\u5b50\u5909\u7570\u306e\u691c\u51fa\u304c\u53ef\u80fd<\/li>\n<\/ul>\n<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<p>JEB-H\u306e\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u306a\u304f\u3001<strong>\u5bfe\u75c7\u7642\u6cd5\u304c\u4e2d\u5fc3<\/strong>\u3068\u306a\u308a\u307e\u3059\u3002\u6cbb\u7642\u306e\u76ee\u7684\u306f\u3001<strong>\u611f\u67d3\u4e88\u9632\u3001\u5275\u50b7\u7ba1\u7406\u3001\u6804\u990a\u30b5\u30dd\u30fc\u30c8\u3001\u75bc\u75db\u7ba1\u7406\u3001\u6c17\u9053\u78ba\u4fdd<\/strong>\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5275\u50b7\u7ba1\u7406<\/strong>\uff1a<strong>\u975e\u7c98\u7740\u6027\u306e\u88ab\u8986\u6750\u3001\u6297\u751f\u7269\u8cea\u8edf\u818f\u3001\u4fdd\u6e7f\u5264<\/strong>\u3092\u4f7f\u7528<\/li>\n\n\n\n<li><strong>\u611f\u67d3\u4e88\u9632<\/strong>\uff1a<strong>\u6297\u751f\u7269\u8cea\u3084\u6297\u771f\u83cc\u85ac\u306e\u6295\u4e0e<\/strong><\/li>\n\n\n\n<li><strong>\u6804\u990a\u30b5\u30dd\u30fc\u30c8<\/strong>\uff1a<strong>\u80c3\u763b\uff08G\u30c1\u30e5\u30fc\u30d6\uff09\u306b\u3088\u308b\u7d4c\u7ba1\u6804\u990a<\/strong><\/li>\n\n\n\n<li><strong>\u547c\u5438\u7ba1\u7406<\/strong>\uff1a<strong>\u6c17\u7ba1\u5207\u958b\u3084\u975e\u4fb5\u8972\u7684\u63db\u6c17<\/strong>\u306b\u3088\u308b\u6c17\u9053\u78ba\u4fdd<\/li>\n\n\n\n<li><strong>\u75bc\u75db\u7ba1\u7406<\/strong>\uff1a<strong>\u30aa\u30d4\u30aa\u30a4\u30c9\u3001\u30ac\u30d0\u30da\u30f3\u30c1\u30ce\u30a4\u30c9\u3001\u5c40\u6240\u9ebb\u9154\u85ac<\/strong><\/li>\n\n\n\n<li><strong>\u624b\u8853\u6cbb\u7642<\/strong>\uff1a\u98df\u9053\u72ed\u7a84\u306b\u5bfe\u3059\u308b<strong>\u62e1\u5f35\u8853<\/strong>\u3001\u904e\u5270\u8089\u82bd\u306e<strong>\u30c7\u30d6\u30ea\u30fc\u30c9\u30de\u30f3\uff08\u9664\u53bb\u624b\u8853\uff09<\/strong><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\u7814\u7a76\u6bb5\u968e\u306e\u6cbb\u7642\u6cd5<\/h3>\n\n\n\n<p>\u73fe\u5728\u3001JEB-H\u306e\u6cbb\u7642\u6cd5\u3068\u3057\u3066\u4ee5\u4e0b\u306e<strong>\u5148\u9032\u533b\u7642<\/strong>\u304c\u7814\u7a76\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u907a\u4f1d\u5b50\u6cbb\u7642<\/strong>\uff1a\u30a6\u30a4\u30eb\u30b9\u30d9\u30af\u30bf\u30fc\u3092\u7528\u3044\u305f<strong>\u30e9\u30df\u30cb\u30f3332\u907a\u4f1d\u5b50\u306e\u5c0e\u5165<\/strong><\/li>\n\n\n\n<li><strong>\u30bf\u30f3\u30d1\u30af\u8cea\u88dc\u5145\u7642\u6cd5<\/strong>\uff1a<strong>\u5916\u7528\u30e9\u30df\u30cb\u30f3332<\/strong>\u306e\u5857\u5e03\u306b\u3088\u308b\u76ae\u819a\u7d50\u5408\u306e\u5f37\u5316<\/li>\n\n\n\n<li><strong>\u7d30\u80de\u6cbb\u7642<\/strong>\uff1a<strong>\u30b1\u30e9\u30c1\u30ce\u30b5\u30a4\u30c8\u5e79\u7d30\u80de\u79fb\u690d<\/strong>\u306b\u3088\u308b\u6a5f\u80fd\u7684\u30e9\u30df\u30cb\u30f3332\u306e\u88dc\u5145<\/li>\n\n\n\n<li><strong>\u7d42\u6b62\u30b3\u30c9\u30f3\u8aad\u307f\u98db\u3070\u3057\u85ac\uff08PTC\u30ea\u30fc\u30c9\u30b9\u30eb\u30fc\u85ac\uff09<\/strong>\uff1a\u30a2\u30bf\u30eb\u30ec\u30f3\uff08Ataluren\uff09\u306a\u3069\u304c\u5019\u88dc<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>JEB-H\u306f<strong>\u975e\u5e38\u306b\u4e88\u5f8c\u304c\u60aa\u304f<\/strong>\u3001\u5927\u534a\u306e\u60a3\u5150\u306f<strong>\u751f\u5f8c6\u304b\u6708\u304b\u30892\u5e74\u4ee5\u5185\u306b\u6b7b\u4ea1<\/strong>\u3057\u307e\u3059\u3002\u4e3b\u306a\u6b7b\u56e0\u306f<strong>\u6557\u8840\u75c7\u3001\u6804\u990a\u4e0d\u826f\u3001\u6c17\u9053\u9589\u585e<\/strong>\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u65b9\u3001<strong>\u975e\u30d8\u30eb\u30ea\u30c3\u30c4\u578bJEB\uff08JEB-nH\uff09\u3084\u8efd\u75c7\u306e\u907a\u4f1d\u7684\u5909\u7570\u3092\u6301\u3064\u60a3\u8005<\/strong>\u3067\u306f\u3001\u5c0f\u5150\u671f\uff5e\u6210\u4eba\u671f\u307e\u3067\u751f\u5b58\u3059\u308b\u4f8b\u3082\u3042\u308a\u307e\u3059\u3002\u7279\u306b\u3001<strong>\u30e9\u30df\u30cb\u30f3332\u306e\u6b8b\u5b58\u767a\u73fe\u304c5\uff5e10\uff05\u3067\u3082\u3042\u308b<\/strong>\u3068\u3001\u751f\u5b58\u7387\u304c\u5411\u4e0a\u3057\u3001\u91cd\u75c7\u5ea6\u304c\u8efd\u6e1b\u3059\u308b\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u73fe\u5728\u306e\u7814\u7a76\u306b\u3088\u3063\u3066\u3001\u907a\u4f1d\u5b50\u6cbb\u7642\u3084\u7cbe\u5bc6\u533b\u7642\u306e\u9032\u6b69\u304cJEB-H\u306e\u6cbb\u7642\u306b\u65b0\u305f\u306a\u53ef\u80fd\u6027\u3092\u3082\u305f\u3089\u3059\u3053\u3068\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\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:\/\/etheses.bham.ac.uk\/id\/eprint\/13593\/8\/Wen2023MRes_Redacted.pdf\">Wen, D. (2023). <em>Genotype-phenotype correlation in junctional epidermolysis bullosa<\/em> (Doctoral dissertation, University of Birmingham).<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1371\/journal.pone.0288263\">Sproule, T. J., Philip, V. M., Chaudhry, N. A., Roopenian, D. C., &amp; Sundberg, J. P. (2023). Seven naturally variant loci serve as genetic modifiers of Lamc2jeb induced non-Herlitz junctional Epidermolysis Bullosa in mice. <em>PLOS ONE<\/em>, <em>18<\/em>(7), e0288263. https:\/\/doi.org\/10.1371\/journal.pone.0288263<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1097\/DAD.0000000000002714\">Haskolo\u011flu, \u015e., \u00d6zt\u00fcrk, G., Deveci Demirba\u015f, N., Akal, C., \u0130slamo\u011flu, C., Bask\u0131n, K., Heper, A., Erdeve, \u00d6., Ceylaner, S., Do\u011fu, F., &amp; \u0130kincio\u011fullar\u0131, A. (2024). Junctional Epidermolysis Bullosa Linked to Homozygous Mutation in LAMC2 Gene: A Case Report With Eosinophil-Rich Inflammatory Infiltrate.&nbsp;<em>The American Journal of dermatopathology<\/em>,&nbsp;<em>46<\/em>(7), 447\u2013451. https:\/\/doi.org\/10.1097\/DAD.0000000000002714<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.jid.2023.11.021\">Wen, D., Hunjan, M., Bardhan, A., Harper, N., Ogboli, M., Ozoemena, L., Liu, L., Fine, J.-D., Chapple, I., Balacco, D. L., &amp; Heagerty, A. (2024). Genotype\u2013phenotype correlation in junctional epidermolysis bullosa: Signposts to severity. <em>Journal of Investigative Dermatology<\/em>, <em>144<\/em>(6), 1334-1343.e14. https:\/\/doi.org\/10.1016\/j.jid.2023.11.021<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.52547\/rbmb.10.4.597\">Taghdiri, M., Naeimi, S., Fardaei, M., &amp; Tabei, S. M. B. (2022). Two Novel Mutations in <em>LAMC2<\/em> Gene in Iranian Families Affected by Junctional Epidermolysis Bullosa. <em>Reports of biochemistry &amp; molecular biology<\/em>, <em>10<\/em>(4), 597\u2013601. https:\/\/doi.org\/10.52547\/rbmb.10.4.597<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.53388\/CRC2023002\">Namboothiri, S. P. (2023). Junctional epidermolysis bullosa in children: An overview. <em>Clinical Research Communications<\/em>, <em>6<\/em>(1), 2. https:\/\/doi.org\/10.53388\/CRC2023002<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/ced\/llae325\">Kumar, A., Jamwal, M., Gupta, S., Sharma, R., Singh, N., Kaushal, L., Kumar, S., Kumar, V., Behera, B., De, D., Handa, S., Nahar, U., Chatterjee, D., Das, R., &amp; Mahajan, R. (2025). Molecular profiling of a cohort with epidermolysis bullosa in India: A single centre experience. <em>Clinical and Experimental Dermatology<\/em>, <em>50<\/em>(3), 597\u2013604. https:\/\/doi.org\/10.1093\/ced\/llae325<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1111\/ddg.15070\">Mengoni, M., Braun, A. D., Has, C., T\u00fcting, T., &amp; Gaffal, E. (2023). Acantholytic squamous cell carcinoma in a patient with junctional epidermolysis bullosa. <em>JDDG: Journal Der Deutschen Dermatologischen Gesellschaft<\/em>, <em>21<\/em>(7), 798\u2013801. https:\/\/doi.org\/10.1111\/ddg.15070<\/a><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/h2>\n\n\n\n<p class=\"has-text-align-center\"><sup>LAMC2, \u63a5\u5408\u90e8\u578b\u8868\u76ae\u6c34\u75b1\u75c7, JEB-H, \u30d8\u30eb\u30ea\u30c3\u30c4\u578bJEB, \u30e9\u30df\u30cb\u30f3332, LAMA3, LAMB3, \u76ae\u819a\u8106\u5f31\u6027,\u907a\u4f1d\u6027\u76ae\u819a\u75be\u60a3,\u6c34\u75b1\u5f62\u6210,\u907a\u4f1d\u5b50\u6cbb\u7642,\u7d30\u80de\u6cbb\u7642,\u57fa\u5e95\u819c\u6b20\u640d,\u76ae\u819a\u518d\u751f\u7642\u6cd5<\/sup><\/p>\n","protected":false},"featured_media":0,"menu_order":30,"template":"page_gd.php","class_list":["post-33786","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\/33786","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":10,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33786\/revisions"}],"predecessor-version":[{"id":127754,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33786\/revisions\/127754"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33786"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}