{"id":59533,"date":"2023-08-14T11:15:05","date_gmt":"2023-08-14T02:15:05","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=59533"},"modified":"2026-05-08T12:30:35","modified_gmt":"2026-05-08T03:30:35","slug":"fabry-disease","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/fabry-disease\/","title":{"rendered":"\u30d5\u30a1\u30d6\u30ea\u30fc\u75c5"},"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>\u30d5\u30a1\u30d6\u30ea\u30fc\u75c5\uff08Fabry\u75c5\uff09\u306f\u3001GLA\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308bX\u9023\u9396\u6027\u30e9\u30a4\u30bd\u30bd\u30fc\u30e0\u75c5\u3067\u3059\u3002\u9175\u7d20\u03b1-\u30ac\u30e9\u30af\u30c8\u30b7\u30c0\u30fc\u30bcA\uff08\u03b1-Gal A\uff09\u306e\u6d3b\u6027\u304c\u4f4e\u4e0b\u3057\u3001\u7cd6\u8102\u8cea\u306e\u84c4\u7a4d\u306b\u3088\u3063\u3066\u5168\u8eab\u306e\u81d3\u5668\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u814e\u75be\u60a3\u3084\u5fc3\u75be\u60a3\u3001\u795e\u7d4c\u75c7\u72b6\u3092\u4f34\u3044\u3001\u7537\u6027\u3060\u3051\u3067\u306a\u304f\u5973\u6027\u306e\u4fdd\u56e0\u8005\u306b\u3082\u75c7\u72b6\u304c\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u65e9\u671f\u8a3a\u65ad\u3068\u9069\u5207\u306a\u6cbb\u7642\u306b\u3088\u308a\u3001\u75c5\u6c17\u306e\u9032\u884c\u3092\u6291\u3048\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\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>GLA\uff5cFabry Disease, X-Linked<\/p>\n\n\n\n<p><sup>Alpha-Galactosidase a Deficiency; Anderson-Fabry Disease; Angiokeratoma Corporis Diffusum; Ceramide Trihexosidase Deficiency; Hereditary Dystopic Lipidosis; Deficiency of Melibiase<\/sup><a href=\"https:\/\/disease-ontology.org\/?id=DOID:14499\" target=\"_blank\" rel=\"noreferrer noopener\"><\/a><a href=\"https:\/\/omim.org\/entry\/301500\" target=\"_blank\" rel=\"noreferrer noopener\"><\/a><a href=\"https:\/\/omim.org\/entry\/301500\" target=\"_blank\" rel=\"noreferrer noopener\"><\/a><a href=\"https:\/\/omim.org\/entry\/301500\" target=\"_blank\" rel=\"noreferrer noopener\"><\/a><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u30d5\u30a1\u30d6\u30ea\u30fc\u75c5\uff08Fabry\u75c5\u3001FD\uff09\u306f\u3001<em>GLA<\/em>\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u5e0c\u5c11\u306aX\u9023\u9396\u6027\u30e9\u30a4\u30bd\u30bd\u30fc\u30e0\u75c5\u3067\u3042\u308b\u3002<em>GLA<\/em>\u907a\u4f1d\u5b50\u306f\u9175\u7d20\u03b1-\u30ac\u30e9\u30af\u30c8\u30b7\u30c0\u30fc\u30bcA\uff08\u03b1-Gal A\uff09\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u3053\u306e\u9175\u7d20\u306f\u30e9\u30a4\u30bd\u30bd\u30fc\u30e0\u5185\u3067\u7cd6\u8102\u8cea\u306e\u4e00\u7a2e\u3067\u3042\u308b\u30b0\u30ed\u30dc\u30c8\u30ea\u30a2\u30aa\u30b7\u30eb\u30bb\u30e9\u30df\u30c9\uff08Gb3\uff09\u3092\u5206\u89e3\u3059\u308b\u5f79\u5272\u3092\u6301\u3064\u3002\u3057\u304b\u3057\u3001\u03b1-Gal A\u304c\u6b20\u640d\u307e\u305f\u306f\u6d3b\u6027\u304c\u4f4e\u4e0b\u3059\u308b\u3068\u3001Gb3\u3084\u305d\u306e\u4ed6\u306e\u7cd6\u8102\u8cea\u304c\u69d8\u3005\u306a\u81d3\u5668\u306b\u84c4\u7a4d\u3057\u3001\u591a\u7cfb\u7d71\u306b\u308f\u305f\u308b\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3059\u3002<\/p>\n\n\n\n<p>\u30d5\u30a1\u30d6\u30ea\u30fc\u75c5\u306f\u3001\u767a\u75c7\u6642\u671f\u3084\u75c7\u72b6\u306e\u7a0b\u5ea6\u306b\u5e45\u304c\u3042\u308a\u3001\u91cd\u75c7\u578b\u3067\u306f\u5c0f\u5150\u671f\u3084\u601d\u6625\u671f\u306b\u767a\u75c7\u3057\u3001\u591a\u304f\u306e\u81d3\u5668\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u3002\u4e00\u65b9\u3001\u8efd\u75c7\u578b\u3084\u9045\u767a\u578b\u3067\u306f\u3001\u4e3b\u306b\u5fc3\u81d3\u3084\u814e\u81d3\u3068\u3044\u3063\u305f\u7279\u5b9a\u306e\u81d3\u5668\u306b\u75c7\u72b6\u304c\u73fe\u308c\u308b\u3002\u4e3b\u306a\u75c7\u72b6\u3068\u3057\u3066\u3001\u624b\u8db3\u306e\u707c\u71b1\u75db\uff08\u30a2\u30af\u30ed\u30d1\u30ec\u30b7\u30a2\uff09\u3001\u76ae\u819a\u306e\u8840\u7ba1\u816b\uff08\u30a2\u30f3\u30ae\u30aa\u30b1\u30e9\u30c8\u30fc\u30de\uff09\u3001\u89d2\u819c\u6df7\u6fc1\uff08\u89d2\u819c\u6e26\u72b6\u6df7\u6fc1\uff09\u3001\u767a\u6c57\u4f4e\u4e0b\uff08\u7121\u6c57\u75c7\uff09\u3001\u6d88\u5316\u5668\u75c7\u72b6\uff08\u8179\u75db\u3001\u4e0b\u75e2\uff09\u3001\u8033\u9cf4\u308a\u3001\u96e3\u8074\u3001\u3055\u3089\u306b\u306f\u9032\u884c\u6027\u306e\u814e\u969c\u5bb3\u3001\u5fc3\u75be\u60a3\u3001\u8133\u8840\u7ba1\u969c\u5bb3\u306a\u3069\u304c\u6319\u3052\u3089\u308c\u308b\u3002<\/p>\n\n\n\n<p>\u30d5\u30a1\u30d6\u30ea\u30fc\u75c5\u306fX\u9023\u9396\u6027\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308b\u305f\u3081\u3001\u7537\u6027\u304c\u91cd\u75c7\u578b\u3092\u767a\u75c7\u3057\u3084\u3059\u3044\u3002\u4e00\u65b9\u3001\u5973\u6027\u306e\u4fdd\u56e0\u8005\u3082X\u67d3\u8272\u4f53\u306e\u4e0d\u6d3b\u6027\u5316\uff08\u30e9\u30a4\u30aa\u30cb\u30bc\u30fc\u30b7\u30e7\u30f3\uff09\u306e\u5f71\u97ff\u306b\u3088\u308a\u3001\u8efd\u75c7\u304b\u3089\u91cd\u75c7\u307e\u3067\u591a\u69d8\u306a\u75c7\u72b6\u3092\u5448\u3059\u308b\u3053\u3068\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>\u30d5\u30a1\u30d6\u30ea\u30fc\u75c5\u306e\u767a\u75c7\u983b\u5ea6\u306f\u3001\u5f93\u6765\u306f\u51fa\u751f\u7537\u515010\u4e07\u4eba\u306b1\u4eba\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u305f\u304c\u3001\u8fd1\u5e74\u306e\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u7d50\u679c\u3067\u306f\u3001\u305d\u308c\u3088\u308a\u3082\u306f\u308b\u304b\u306b\u9ad8\u3044\u983b\u5ea6\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u793a\u3055\u308c\u3066\u3044\u308b\u3002\u4f8b\u3048\u3070\u3001\u53f0\u6e7e\u306b\u304a\u3051\u308bGLA\u907a\u4f1d\u5b50\u5909\u7570\uff08IVS4+919G&gt;A\uff09\u3092\u6301\u3064\u9045\u767a\u578b\u306e\u7537\u6027\u60a3\u8005\u306e\u983b\u5ea6\u306f875\u4eba\u306b1\u4eba\u3001\u5973\u6027\u60a3\u8005\u306f399\u4eba\u306b1\u4eba\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002\u7279\u5b9a\u306e\u9ad8\u30ea\u30b9\u30af\u96c6\u56e3\u3067\u306f\u3055\u3089\u306b\u6709\u75c5\u7387\u304c\u9ad8\u304f\u3001\u6162\u6027\u814e\u81d3\u75c5\uff08CKD\uff09\u60a3\u8005\u3067\u306f0.3%\u3001\u80a5\u5927\u578b\u5fc3\u7b4b\u75c7\uff08HCM\uff09\u60a3\u8005\u3067\u306f1.2%\u304c\u30d5\u30a1\u30d6\u30ea\u30fc\u75c5\u306e\u53ef\u80fd\u6027\u304c\u3042\u308b\u3068\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>\u30d5\u30a1\u30d6\u30ea\u30fc\u75c5\u306e\u539f\u56e0\u306f\u3001X\u67d3\u8272\u4f53\u4e0a\uff08Xq22\uff09\u306b\u4f4d\u7f6e\u3059\u308b<em>GLA<\/em>\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u306b\u3088\u308b\u03b1-Gal A\u9175\u7d20\u306e\u6b20\u640d\u307e\u305f\u306f\u6d3b\u6027\u4f4e\u4e0b\u3067\u3042\u308b\u3002\u3053\u306e\u9175\u7d20\u306e\u50cd\u304d\u304c\u4f4e\u4e0b\u3059\u308b\u3068\u3001Gb3\u3084\u305d\u306e\u4ee3\u8b1d\u7523\u7269\u3067\u3042\u308b\u30ea\u30bdGb3\uff08lyso-Gb3\uff09\u304c\u30e9\u30a4\u30bd\u30bd\u30fc\u30e0\u5185\u306b\u84c4\u7a4d\u3059\u308b\u3002\u7279\u306b\u8840\u7ba1\u5185\u76ae\u7d30\u80de\u3001\u814e\u7cf8\u7403\u4f53\u306e\u8db3\u7d30\u80de\u3001\u5fc3\u7b4b\u7d30\u80de\u3001\u795e\u7d4c\u7d30\u80de\u306b\u304a\u3044\u3066\u3053\u306e\u84c4\u7a4d\u304c\u9855\u8457\u3068\u306a\u308a\u3001\u6162\u6027\u708e\u75c7\u3001\u9178\u5316\u30b9\u30c8\u30ec\u30b9\u3001\u7dda\u7dad\u5316\u3092\u5f15\u304d\u8d77\u3053\u3059\u3002\u73fe\u5728\u307e\u3067\u306b900\u7a2e\u985e\u4ee5\u4e0a\u306e\u75c5\u7684\u306a<em>GLA<\/em>\u907a\u4f1d\u5b50\u5909\u7570\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u305d\u308c\u305e\u308c\u306e\u9175\u7d20\u6d3b\u6027\u306e\u6b8b\u5b58\u7387\u306b\u3088\u3063\u3066\u3001\u75c7\u72b6\u306e\u91cd\u75c7\u5ea6\u306b\u5927\u304d\u306a\u5dee\u304c\u3042\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>\u30d5\u30a1\u30d6\u30ea\u30fc\u75c5\u306e\u75c7\u72b6\u306f\u3001\u5c0f\u5150\u671f\u3084\u601d\u6625\u671f\u306b\u73fe\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u6642\u9593\u3068\u3068\u3082\u306b\u9032\u884c\u3059\u308b\u3002\u5178\u578b\u7684\u306a\u75c7\u72b6\u3068\u3057\u3066\u4ee5\u4e0b\u306e\u3082\u306e\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u624b\u8db3\u306b\u751f\u3058\u308b\u707c\u71b1\u75db\uff08\u30a2\u30af\u30ed\u30d1\u30ec\u30b7\u30a2\uff09\u306f\u3001\u904b\u52d5\u3084\u767a\u71b1\u3001\u6691\u3055\u306b\u3088\u3063\u3066\u8a98\u767a\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3002\u76ae\u819a\u306b\u306f\u30a2\u30f3\u30ae\u30aa\u30b1\u30e9\u30c8\u30fc\u30de\u3068\u547c\u3070\u308c\u308b\u8d64\u9ed2\u3044\u767a\u75b9\u304c\u73fe\u308c\u3001\u7279\u306b\u4f53\u5e79\u90e8\u3084\u9f20\u5f84\u90e8\u306b\u591a\u304f\u307f\u3089\u308c\u308b\u3002\u773c\u79d1\u7684\u306b\u306f\u3001\u89d2\u819c\u306b\u6e26\u5dfb\u304d\u72b6\u306e\u6df7\u6fc1\uff08\u89d2\u819c\u6e26\u72b6\u6df7\u6fc1\uff09\u304c\u751f\u3058\u308b\u304c\u3001\u8996\u529b\u306b\u306f\u307b\u3068\u3093\u3069\u5f71\u97ff\u3092\u4e0e\u3048\u306a\u3044\u3002\u767a\u6c57\u6a5f\u80fd\u306e\u4f4e\u4e0b\uff08\u7121\u6c57\u75c7\uff09\u304c\u307f\u3089\u308c\u3001\u6691\u3055\u306b\u5f31\u304f\u306a\u308b\u3053\u3068\u3082\u3042\u308b\u3002\u6d88\u5316\u5668\u75c7\u72b6\u3068\u3057\u3066\u306f\u3001\u8179\u75db\u3001\u4e0b\u75e2\u3001\u5410\u304d\u6c17\u306a\u3069\u304c\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u8033\u9cf4\u308a\u3084\u9032\u884c\u6027\u306e\u96e3\u8074\u306f\u3001\u5185\u8033\u306e\u969c\u5bb3\u306b\u3088\u308b\u3082\u306e\u3067\u3042\u308a\u3001\u9ad8\u9f62\u306b\u306a\u308b\u306b\u3064\u308c\u3066\u60aa\u5316\u3059\u308b\u3053\u3068\u304c\u3042\u308b\u3002\u814e\u6a5f\u80fd\u306e\u969c\u5bb3\u306f\u3001\u521d\u671f\u306b\u306f\u5c3f\u4e2d\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u6392\u6cc4\uff08\u30bf\u30f3\u30d1\u30af\u5c3f\uff09\u304c\u5897\u52a0\u3057\u3001\u653e\u7f6e\u3059\u308b\u3068\u6162\u6027\u814e\u4e0d\u5168\uff08CKD\uff09\u3084\u672b\u671f\u814e\u4e0d\u5168\uff08ESRD\uff09\u306b\u9032\u884c\u3059\u308b\u3002\u5fc3\u81d3\u306e\u969c\u5bb3\u3068\u3057\u3066\u306f\u3001\u5de6\u5fc3\u5ba4\u306e\u80a5\u5927\uff08LVH\uff09\u3001\u4e0d\u6574\u8108\u3001\u5fc3\u4e0d\u5168\u306a\u3069\u304c\u3042\u308a\u3001\u8133\u8840\u7ba1\u7cfb\u306e\u5408\u4f75\u75c7\u3068\u3057\u3066\u306f\u8133\u5352\u4e2d\u3084\u4e00\u904e\u6027\u8133\u865a\u8840\u767a\u4f5c\uff08TIA\uff09\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308b\u3002<\/p>\n\n\n\n<p>\u4e00\u65b9\u3001\u9045\u767a\u578b\u306e\u30d5\u30a1\u30d6\u30ea\u30fc\u75c5\u3067\u306f\u3001\u3053\u308c\u3089\u306e\u5168\u8eab\u75c7\u72b6\u306f\u73fe\u308c\u305a\u3001\u4e3b\u306b\u5fc3\u81d3\u307e\u305f\u306f\u814e\u81d3\u306b\u9650\u5b9a\u3055\u308c\u305f\u969c\u5bb3\u3068\u3057\u3066\u767a\u75c7\u3059\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>\u30d5\u30a1\u30d6\u30ea\u30fc\u75c5\u306e\u8a3a\u65ad\u306b\u306f\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u691c\u67fb\u304c\u7528\u3044\u3089\u308c\u308b\u3002<\/p>\n\n\n\n<p>\u7537\u6027\u60a3\u8005\u3067\u306f\u3001\u767d\u8840\u7403\u3084\u4e7e\u71e5\u8840\u6db2\u30b9\u30dd\u30c3\u30c8\u3092\u7528\u3044\u305f\u9175\u7d20\u6d3b\u6027\u6e2c\u5b9a\u304c\u7b2c\u4e00\u9078\u629e\u3068\u306a\u308a\u3001\u9175\u7d20\u6d3b\u6027\u304c1%\u672a\u6e80\u3067\u3042\u308c\u3070\u53e4\u5178\u578b\u306e\u30d5\u30a1\u30d6\u30ea\u30fc\u75c5\u3068\u8a3a\u65ad\u3055\u308c\u308b\u3002\u5973\u6027\u3067\u306f\u9175\u7d20\u6d3b\u6027\u304c\u6b63\u5e38\u7bc4\u56f2\u5185\u3068\u306a\u308b\u3053\u3068\u3082\u591a\u3044\u305f\u3081\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u308b<em>GLA<\/em>\u5909\u7570\u306e\u540c\u5b9a\u304c\u5fc5\u8981\u3068\u306a\u308b\u3002\u52a0\u3048\u3066\u3001\u8840\u6f3f\u4e2d\u306e\u30ea\u30bdGb3\u6e2c\u5b9a\u306f\u75c5\u6c17\u306e\u9032\u884c\u5ea6\u3092\u8a55\u4fa1\u3059\u308b\u305f\u3081\u306e\u6709\u7528\u306a\u30d0\u30a4\u30aa\u30de\u30fc\u30ab\u30fc\u3068\u306a\u308b\u3002<\/p>\n\n\n\n<p>\u814e\u81d3\u3084\u5fc3\u81d3\u3001\u76ae\u819a\u306e\u7d44\u7e54\u751f\u691c\u3092\u884c\u3046\u3068\u3001Gb3\u306e\u84c4\u7a4d\u3092\u78ba\u8a8d\u3067\u304d\u308b\u3002\u5fc3\u81d3\u306eMRI\u3084\u5fc3\u30a8\u30b3\u30fc\u691c\u67fb\u306f\u3001\u9045\u767a\u578b\u306e\u5fc3\u81d3\u578b\u30d5\u30a1\u30d6\u30ea\u30fc\u75c5\u306e\u8a3a\u65ad\u306b\u6709\u7528\u3067\u3042\u308b\u3002\u814e\u6a5f\u80fd\u8a55\u4fa1\u3068\u3057\u3066\u3001\u5c3f\u30bf\u30f3\u30d1\u30af\u6e2c\u5b9a\u3084\u7cf8\u7403\u4f53\u6ffe\u904e\u7387\uff08GFR\uff09\u306e\u6e2c\u5b9a\u304c\u91cd\u8981\u3068\u306a\u308b\u3002\u8133MRI\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u767d\u8cea\u75c5\u5909\u306a\u3069\u306e\u8133\u8840\u7ba1\u969c\u5bb3\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u3082\u3067\u304d\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>\u30d5\u30a1\u30d6\u30ea\u30fc\u75c5\u306e\u6cbb\u7642\u3067\u306f\u3001\u7cd6\u8102\u8cea\u306e\u84c4\u7a4d\u3092\u6291\u3048\u3001\u75c7\u72b6\u306e\u7ba1\u7406\u3068\u81d3\u5668\u969c\u5bb3\u306e\u9032\u884c\u9632\u6b62\u3092\u76ee\u7684\u3068\u3059\u308b\u3002<\/p>\n\n\n\n<p>\u9175\u7d20\u88dc\u5145\u7642\u6cd5\uff08ERT\uff09\u306f\u3001\u907a\u4f1d\u5b50\u7d44\u63db\u3048\u578b\u306e\u03b1-Gal A\u3092\u6295\u4e0e\u3059\u308b\u6cbb\u7642\u6cd5\u3067\u3001\u30a2\u30ac\u30eb\u30b7\u30c0\u30fc\u30bc\u30fb\u30a2\u30eb\u30d5\u30a1\uff08Replagal\u00ae\uff09\u3001\u30a2\u30ac\u30eb\u30b7\u30c0\u30fc\u30bc\u30fb\u30d9\u30fc\u30bf\uff08Fabrazyme\u00ae\uff09\u3001\u304a\u3088\u3073\u65b0\u898f\u306e\u30da\u30b0\u30cb\u30ac\u30eb\u30b7\u30c0\u30fc\u30bc\u30fb\u30a2\u30eb\u30d5\u30a1\uff08PRX-102\uff09\u304c\u3042\u308b\u3002\u307e\u305f\u3001\u30df\u30ac\u30e9\u30b9\u30bf\u30c3\u30c8\uff08Galafold\u00ae\uff09\u3068\u3044\u3046\u85ac\u306f\u3001\u7279\u5b9a\u306e<em>GLA<\/em>\u5909\u7570\u3092\u6301\u3064\u60a3\u8005\u306b\u5bfe\u3057\u3066\u9175\u7d20\u306e\u5b89\u5b9a\u5316\u3092\u4fc3\u3059\u30d5\u30a1\u30fc\u30de\u30b3\u30ed\u30b8\u30ab\u30eb\u30fb\u30b7\u30e3\u30da\u30ed\u30f3\u7642\u6cd5\u3068\u3057\u3066\u4f7f\u7528\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<p>\u88dc\u52a9\u7642\u6cd5\u3068\u3057\u3066\u3001\u814e\u969c\u5bb3\u306e\u9032\u884c\u3092\u6291\u3048\u308b\u305f\u3081\u306eACE\u963b\u5bb3\u85ac\u3084ARB\u3001\u4e0d\u6574\u8108\u3084\u5fc3\u4e0d\u5168\u306e\u7ba1\u7406\u306e\u305f\u3081\u306e\u6297\u4e0d\u6574\u8108\u85ac\u3084\u30da\u30fc\u30b9\u30e1\u30fc\u30ab\u30fc\u306e\u88c5\u7740\u3001\u8133\u5352\u4e2d\u4e88\u9632\u306e\u305f\u3081\u306e\u6297\u8840\u5c0f\u677f\u85ac\u3084\u6297\u51dd\u56fa\u85ac\u306e\u4f7f\u7528\u304c\u63a8\u5968\u3055\u308c\u308b\u3002\u75bc\u75db\u7ba1\u7406\u306b\u306f\u3001\u6297\u3066\u3093\u304b\u3093\u85ac\uff08\u30ab\u30eb\u30d0\u30de\u30bc\u30d4\u30f3\u3001\u30ac\u30d0\u30da\u30f3\u30c1\u30f3\uff09\u3084\u6297\u3046\u3064\u85ac\uff08\u30c7\u30e5\u30ed\u30ad\u30bb\u30c1\u30f3\uff09\u304c\u6709\u52b9\u3068\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>\u30d5\u30a1\u30d6\u30ea\u30fc\u75c5\u306e\u4e88\u5f8c\u306f\u3001\u767a\u75c7\u5e74\u9f62\u3084\u9175\u7d20\u6d3b\u6027\u306e\u6b8b\u5b58\u7387\u3001\u81d3\u5668\u969c\u5bb3\u306e\u7a0b\u5ea6\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308b\u3002\u6cbb\u7642\u306a\u3057\u3067\u306f\u3001\u814e\u4e0d\u5168\u3084\u91cd\u7be4\u306a\u5fc3\u75be\u60a3\u3001\u8133\u5352\u4e2d\u304c40\uff5e50\u4ee3\u3067\u767a\u751f\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u3002\u65e9\u671f\u306bERT\u3084\u30b7\u30e3\u30da\u30ed\u30f3\u7642\u6cd5\u3092\u958b\u59cb\u3059\u308b\u3053\u3068\u3067\u75c5\u6c17\u306e\u9032\u884c\u3092\u9045\u3089\u305b\u3001\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u3053\u3068\u304c\u3067\u304d\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\/10.3390\/ijms19123726\">Duro, G., Zizzo, C., Cammarata, G., Burlina, A., Burlina, A., Polo, G., Scalia, S., Oliveri, R., Sciarrino, S., Francofonte, D., Alessandro, R., Pisani, A., Palladino, G., Napoletano, R., Tenuta, M., Masarone, D., Limongelli, G., Riccio, E., Frustaci, A., \u2026 Colomba, P. (2018). Mutations in the gla gene and lysogb3: Is it really anderson-fabry disease? <em>International Journal of Molecular Sciences<\/em>, <em>19<\/em>(12), 3726. https:\/\/doi.org\/10.3390\/ijms19123726<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1161\/CIRCGEN.123.004252\">Monda, E., Diana, G., Graziani, F., Rubino, M., Bakalakos, A., Linhart, A., Germain, D. P., Scarpa, M., Biagini, E., Pieroni, M., Elliott, P. M., &amp; Limongelli, G. (2023). Impact of <em>gla<\/em> variant classification on the estimated prevalence of fabry disease: A systematic review and meta-analysis of screening studies. <em>Circulation: Genomic and Precision Medicine<\/em>, e004252. https:\/\/doi.org\/10.1161\/CIRCGEN.123.004252<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/gim.2016.55\">Schiffmann, R., Fuller, M., Clarke, L. <em>et al.<\/em> Is it Fabry disease?. <em>Genet Med<\/em> <strong>18<\/strong>, 1181\u20131185 (2016). https:\/\/doi.org\/10.1038\/gim.2016.55<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/s41598-023-31777-4\">Hallows, W.C., Skvorak, K., Agard, N. <em>et al.<\/em> Optimizing human \u03b1-galactosidase for treatment of Fabry disease. <em>Sci Rep<\/em> <strong>13<\/strong>, 4748 (2023). https:\/\/doi.org\/10.1038\/s41598-023-31777-4<\/a><\/li>\n<\/ul>\n<\/div><\/div>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-59533","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\/59533","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":4,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/59533\/revisions"}],"predecessor-version":[{"id":128075,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/59533\/revisions\/128075"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=59533"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}