{"id":121864,"date":"2026-01-07T17:51:21","date_gmt":"2026-01-07T08:51:21","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=121864"},"modified":"2026-03-03T17:54:40","modified_gmt":"2026-03-03T08:54:40","slug":"lamellar-ichthyosis-type-1-2","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/lamellar-ichthyosis-type-1-2\/","title":{"rendered":"1\u578b\u30e9\u30e1\u30e9\u9b5a\u9c57\u766c"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u6982\u8981<\/strong><\/h2>\n\n\n\n<p>1\u578b\u30e9\u30e1\u30e9\u9b5a\u9c57\u766c\u306f\u3001\u51fa\u751f\u6642\u304b\u3089\u5168\u8eab\u306e\u76ae\u819a\u304c**\u539a\u3044\u89d2\u8cea\u5c64\uff08\u9b5a\u9c57\u72b6\uff09\u3092\u5448\u3057\u3001\u4e7e\u71e5\u3084\u4e80\u88c2\u3092\u751f\u3058\u308b\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u4e3b\u306b <strong>\u30c8\u30e9\u30f3\u30b9\u30b0\u30eb\u30bf\u30df\u30ca\u30fc\u30bc1\uff08transglutaminase-1\uff09<\/strong> \u3092\u30b3\u30fc\u30c9\u3059\u308b <strong>TGM1 \u907a\u4f1d\u5b50<\/strong> \u306e\u75c5\u7684\u5909\u7570\u304c\u539f\u56e0\u3067\u3001\u89d2\u5c64\u306e\u5f62\u6210\u30fb\u4fdd\u6301\u306b\u5fc5\u8981\u306a\u76ae\u819a\u30d0\u30ea\u30a2\u304c\u6b63\u5e38\u306b\u6a5f\u80fd\u305b\u305a\u3001\u89d2\u8cea\u304c\u5265\u96e2\u30fb\u5806\u7a4d\u3057\u3066\u201c\u5927\u304d\u306a\u9b5a\u9c57\u72b6\u306e\u9c57\u5c51\u201d\u304c\u7279\u5fb4\u7684\u306b\u307f\u3089\u308c\u307e\u3059\u3002\u751f\u6daf\u306b\u308f\u305f\u308a\u76ae\u819a\u306e\u4e7e\u71e5\u30fb\u4e80\u88c2\u304c\u6162\u6027\u7684\u306b\u7d9a\u304d\u3001\u4e8c\u6b21\u7684\u306a\u708e\u75c7\u30fb\u611f\u67d3\u3092\u8d77\u3053\u3057\u3084\u3059\u3044\u72b6\u614b\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u300c\u5148\u5929\u6027\u9b5a\u9c57\u766c\u300d\u306e\u4ee3\u8868\u7684\u75c5\u578b\u306e\u4e00\u3064\u3067\u3042\u308a\u3001\u91cd\u75c7\u5ea6\u306f\u591a\u69d8\u3067\u3059\u304c\u3001TGM1 \u5909\u7570\u304c\u6700\u3082\u9ad8\u983b\u5ea6\u3067\u307f\u3089\u308c\u307e\u3059\uff08Type 1\uff09\u3002\u76ae\u819a\u30d0\u30ea\u30a2\u6a5f\u80fd\u969c\u5bb3\u306b\u57fa\u3065\u304f\u305f\u3081\u3001\u5168\u8eab\u75c7\u72b6\u3084\u4f53\u6e29\u8abf\u7bc0\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u75ab\u5b66<\/strong><\/h2>\n\n\n\n<p>\u30e9\u30e1\u30e9\u9b5a\u9c57\u766c\u5168\u4f53\u306f\u4e16\u754c\u7684\u306b\u7a00\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u51fa\u751f\u4eba\u53e3\u306b\u5bfe\u3059\u308b\u767a\u75c7\u983b\u5ea6\u306f<strong>\u7d041\/100,000\u301c1\/200,000<\/strong> \u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002TGM1\u95a2\u9023\u4f8b\uff08Type 1\uff09\u306f\u3001\u9b5a\u9c57\u766c\u306e\u4e2d\u3067\u3082\u6700\u3082\u9ad8\u983b\u5ea6\u3092\u5360\u3081\u308b\u3082\u306e\u306e\u3001\u96c6\u56e3\u306b\u3088\u3063\u3066\u4fdd\u56e0\u8005\u983b\u5ea6\u3084\u5909\u7570\u983b\u5ea6\u306b\u5dee\u304c\u3042\u308a\u307e\u3059\u3002\u7537\u5973\u5dee\u306f\u306a\u304f\u3001\u5730\u57df\u3084\u4eba\u7a2e\u3092\u554f\u308f\u305a\u6563\u767a\u4f8b\u30fb\u5bb6\u65cf\u5185\u96c6\u7a4d\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u75c5\u56e0<\/strong><\/h3>\n\n\n\n<p>1\u578b\u30e9\u30e1\u30e9\u9b5a\u9c57\u766c\u306f\u3001<strong>TGM1 \u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570<\/strong>\u306b\u3088\u3063\u3066\u8d77\u3053\u308a\u307e\u3059\u3002TGM1 \u306f\u76ae\u819a\u89d2\u5c64\u5f62\u6210\u306b\u4e0d\u53ef\u6b20\u306a <strong>\u30c8\u30e9\u30f3\u30b9\u30b0\u30eb\u30bf\u30df\u30ca\u30fc\u30bc1\uff08TGase-1\uff09<\/strong> \u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u7d30\u80de\u9593\u7d50\u5408\u3084\u89d2\u8cea\u7d30\u80de\u30db\u30fc\u30f3\u5c64\u306e\u67b6\u6a4b\u5f62\u6210\u3092\u52a9\u3051\u3066\u76ae\u819a\u30d0\u30ea\u30a2\u306e\u69cb\u7bc9\u306b\u95a2\u4e0e\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u907a\u4f1d\u5f62\u5f0f<\/strong><\/h3>\n\n\n\n<p>\u75be\u60a3\u306f <strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d<\/strong> \u3092\u5448\u3057\u3001\u4e21\u89aa\u304c\u305d\u308c\u305e\u308c1\u3064\u305a\u3064\u7570\u5e38\u30a2\u30ec\u30eb\u3092\u6301\u3064\u5834\u5408\u306b\u767a\u75c7\u3057\u307e\u3059\u3002TGM1 \u306e\u3055\u307e\u3056\u307e\u306a\u5909\u7570\uff08\u70b9\u5909\u7570\u30fb\u6b20\u5931\u306a\u3069\uff09\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u5909\u7570\u306e\u7d44\u307f\u5408\u308f\u305b\u306b\u3088\u308a\u75c7\u72b6\u306e\u91cd\u75c7\u5ea6\u306b\u5dee\u304c\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u75c7\u72b6<\/strong><\/h2>\n\n\n\n<p>1\u578b\u30e9\u30e1\u30e9\u9b5a\u9c57\u766c\u306e\u75c7\u72b6\u306f\u51fa\u751f\u76f4\u5f8c\u304b\u3089\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u751f\u6daf\u306b\u308f\u305f\u308a\u6162\u6027\u306e\u76ae\u819a\u75c7\u72b6\u304c\u7d9a\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u76ae\u819a\u75c7\u72b6<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5168\u8eab\u306e\u539a\u3044\u9b5a\u9c57\u72b6\u76ae\u75b9<\/strong>\uff08\u5927\u304d\u304f\u5265\u304c\u308c\u308b\u9c57\u5c51\uff09<\/li>\n\n\n\n<li>\u4e7e\u71e5\u30fb\u3072\u3073\u5272\u308c\u3001\u75d2\u307f<\/li>\n\n\n\n<li>\u89d2\u5316\u4ea2\u9032\u306b\u3088\u308b\u76ae\u819a\u306e\u80a5\u539a<\/li>\n\n\n\n<li><strong>\u638c\u8e60\u89d2\u5316\u75c7<\/strong>\uff08\u624b\u8db3\u306e\u89d2\u5316\u4ea2\u9032\uff09\u3092\u4f34\u3046\u4f8b<\/li>\n\n\n\n<li>\u76ae\u819a\u30d0\u30ea\u30a2\u7834\u7dbb\u306b\u3088\u308b\u4e7e\u71e5\u30fb\u708e\u75c7<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u5168\u8eab\u75c7\u72b6\u30fb\u4e8c\u6b21\u7684\u5408\u4f75<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4f53\u6e29\u8abf\u7bc0\u969c\u5bb3\uff08\u767a\u6c57\u4e0d\u5168\uff09<\/li>\n\n\n\n<li>\u76ae\u819a\u611f\u67d3\u75c7\u306e\u53cd\u5fa9<\/li>\n\n\n\n<li>\u95a2\u7bc0\u53ef\u52d5\u57df\u5236\u9650\uff08\u76ae\u819a\u62d8\u7e2e\uff09<\/li>\n\n\n\n<li>\u773c\u77bc\u88c2\u306e\u4e7e\u71e5<\/li>\n<\/ul>\n\n\n\n<p>\u75c7\u72b6\u306f<strong>\u5b63\u7bc0\u30fb\u74b0\u5883\u56e0\u5b50<\/strong>\u306b\u5f71\u97ff\u3055\u308c\u3084\u3059\u304f\u3001\u4e7e\u71e5\u30fb\u5bd2\u51b7\u4e0b\u3067\u60aa\u5316\u3059\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad<\/strong><\/h2>\n\n\n\n<p>\u8a3a\u65ad\u306f\u3001\u4ee5\u4e0b\u306e\u7d44\u307f\u5408\u308f\u305b\u3067\u7dcf\u5408\u7684\u306b\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>1. \u81e8\u5e8a\u8a55\u4fa1<\/strong><\/h3>\n\n\n\n<p>\u5178\u578b\u7684\u306a<strong>\u51fa\u751f\u671f\u304b\u3089\u306e\u9b5a\u9c57\u72b6\u89d2\u5316\u75c7<\/strong>\u3001\u5e83\u7bc4\u306a\u89d2\u8cea\u9c57\u5c51\u3001\u76ae\u819a\u4e7e\u71e5\u30fb\u4e80\u88c2\u3092\u8a8d\u3081\u308b\u5834\u5408\u306b\u7591\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>2. \u907a\u4f1d\u5b50\u8a3a\u65ad<\/strong><\/h3>\n\n\n\n<p><strong>TGM1\u907a\u4f1d\u5b50\u89e3\u6790<\/strong>\u306b\u3088\u308a\u75c5\u7684\u5909\u7570\u306e\u540c\u5b9a\u304c\u6700\u7d42\u8a3a\u65ad\u306b\u6709\u7528\u3067\u3059\u3002\u4fdd\u56e0\u8005\u691c\u67fb\u3084\u5bb6\u65cf\u5185\u767a\u75c7\u4f8b\u306e\u89e3\u6790\u306b\u3082\u6709\u52b9\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>3. \u8868\u76ae\u751f\u691c\uff08\u88dc\u52a9\uff09<\/strong><\/h3>\n\n\n\n<p>\u76ae\u819a\u751f\u691c\u306b\u3088\u308a\u89d2\u5c64\u69cb\u9020\u30fb\u7d30\u80de\u9593\u67b6\u6a4b\u306e\u7570\u5e38\u3092\u8a55\u4fa1\u3057\u307e\u3059\u304c\u3001\u73fe\u5728\u3067\u306f\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u78ba\u5b9a\u8a3a\u65ad\u306e\u4e3b\u6d41\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642<\/strong><\/h2>\n\n\n\n<p>1\u578b\u30e9\u30e1\u30e9\u9b5a\u9c57\u766c\u306b\u306f\u6839\u6cbb\u7642\u6cd5\u306f\u306a\u304f\u3001\u75c7\u72b6\u7de9\u548c\u3068\u76ae\u819a\u30d0\u30ea\u30a2\u6a5f\u80fd\u306e\u7dad\u6301\u3092\u76ee\u7684\u3068\u3057\u305f<strong>\u652f\u6301\u7642\u6cd5<\/strong>\u304c\u4e2d\u5fc3\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>1. \u30b9\u30ad\u30f3\u30b1\u30a2<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4fdd\u6e7f\u5264\u30fb\u89d2\u8cea\u8edf\u5316\u5264\uff08\u5c3f\u7d20\u30fb\u4e73\u9178\u306a\u3069\uff09<\/strong> \u306e\u983b\u56de\u5857\u5e03<\/li>\n\n\n\n<li>\u4f4e\u523a\u6fc0\u6027\u30b9\u30ad\u30f3\u30b1\u30a2\u88fd\u54c1\u306e\u4f7f\u7528<\/li>\n\n\n\n<li>\u5165\u6d74\u5f8c\u306e\u4fdd\u6e7f\u30b1\u30a2\u3068\u9c57\u5c51\u9664\u53bb\uff08\u904e\u5ea6\u306a\u30b9\u30af\u30e9\u30d6\u306f\u907f\u3051\u308b\uff09<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>2. \u85ac\u7269\u7642\u6cd5<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30ec\u30c1\u30ce\u30a4\u30c9\u5185\u670d\uff08\u9078\u629e\u4f8b\uff09<\/li>\n\n\n\n<li>\u5916\u7528\u30b9\u30c6\u30ed\u30a4\u30c9\u30fb\u514d\u75ab\u8abf\u7bc0\u5264\uff08\u708e\u75c7\u90e8\u4f4d\u306b\u5fdc\u3058\u3066\uff09<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>3. \u5408\u4f75\u75c7\u7ba1\u7406<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u611f\u67d3\u6642\u306e\u6297\u83cc\u85ac<\/li>\n\n\n\n<li>\u4e7e\u71e5\u30fb\u4e80\u88c2\u306b\u3088\u308b\u75db\u307f\u30fb\u7619\u75d2\u306e\u5bfe\u51e6<\/li>\n\n\n\n<li>\u4f53\u6e29\u8abf\u7bc0\u30b5\u30dd\u30fc\u30c8<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>4. \u591a\u8077\u7a2e\u652f\u63f4<\/strong><\/h3>\n\n\n\n<p>\u76ae\u819a\u79d1\u3001\u6804\u990a\u3001\u30ea\u30cf\u30d3\u30ea\u3001\u5fc3\u7406\u793e\u4f1a\u652f\u63f4\u306a\u3069\u3092\u7d44\u307f\u5408\u308f\u305b\u305f\u7dcf\u5408\u7684\u30b1\u30a2\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e\u5143<\/strong><\/h2>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>MedlinePlus Genetics<\/strong>: <em>Lamellar ichthyosis<\/em> \u2014 \u75be\u60a3\u6982\u8aac\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3001\u81e8\u5e8a\u50cf\u3002<br><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/lamellar-ichthyosis\/\">https:\/\/medlineplus.gov\/genetics\/condition\/lamellar-ichthyosis\/<\/a><\/li>\n\n\n\n<li><strong>NCBI Bookshelf \/ GeneReviews\u00ae:<\/strong> <em>Ichthyosis Lamellar and Related Disorders<\/em> \u2014 \u8a3a\u65ad\u30fb\u7ba1\u7406\u30ac\u30a4\u30c9\u3002<br><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1129\/\">https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1129\/<\/a><\/li>\n\n\n\n<li><strong>Orphanet:<\/strong> <em>Lamellar ichthyosis<\/em> \u2014 \u75ab\u5b66\u30fb\u81e8\u5e8a\u50cf\u3002<br><a href=\"https:\/\/www.orpha.net\/consor\/cgi-bin\/OC_Exp.php?Lng=EN&amp;Expert=244\">https:\/\/www.orpha.net\/consor\/cgi-bin\/OC_Exp.php?Lng=EN&amp;Expert=244<\/a><\/li>\n\n\n\n<li><strong>DermNet NZ:<\/strong> <em>Lamellar ichthyosis<\/em> \u2014 \u75c7\u72b6\u30fb\u6cbb\u7642\u6982\u8981\u3002<br><a href=\"https:\/\/dermnetnz.org\/topics\/lamellar-ichthyosis\/\">https:\/\/dermnetnz.org\/topics\/lamellar-ichthyosis\/<\/a><\/li>\n<\/ol>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-121864","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\/121864","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\/121864\/revisions"}],"predecessor-version":[{"id":125313,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/121864\/revisions\/125313"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=121864"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}