{"id":136668,"date":"2026-09-08T12:23:01","date_gmt":"2026-09-08T03:23:01","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=136668"},"modified":"2026-09-08T12:23:01","modified_gmt":"2026-09-08T03:23:01","slug":"mucopolysaccharidosis-is-idua","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mucopolysaccharidosis-is-idua\/","title":{"rendered":"\u30e0\u30b3\u591a\u7cd6\u75c7I\u578b \u30b7\u30e3\u30a4\u30a8\u578b"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n\n<p>\u30e0\u30b3\u591a\u7cd6\u75c7I\u578b \u30b7\u30e3\u30a4\u30a8\u578b\uff08Scheie syndrome\uff09\u306f\u3001\u30e0\u30b3\u591a\u7cd6\u75c7I\u578b\u306e\u306a\u304b\u3067<strong>\u3082\u3063\u3068\u3082\u75c7\u72b6\u304c\u8efd\u3044\u578b<\/strong>\u3067\u3059\u3002\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u3001<strong>IDUA<\/strong> \u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u77e5\u7684\u306a\u767a\u9054\u306f\u4fdd\u305f\u308c\u3001\u8eab\u9577\u3082\u307b\u307c\u6b63\u5e38\u3067\u3059\u3002\u95a2\u7bc0\u306e\u786c\u3055\u3084\u89d2\u819c\u306e\u6fc1\u308a\u3001\u5fc3\u81d3\u306e\u5f01\u306e\u7570\u5e38\u304c\u3001\u601d\u6625\u671f\u4ee5\u964d\u306b\u3086\u3063\u304f\u308a\u73fe\u308c\u307e\u3059\u3002<strong>\u8a3a\u65ad\u304c\u9045\u308c\u3084\u3059\u3044\u578b<\/strong>\u3067\u3001\u6210\u4eba\u306b\u306a\u3063\u3066\u304b\u3089\u898b\u3064\u304b\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n\n<p><strong>IDUA<\/strong> \u907a\u4f1d\u5b50\u306f\u3001\u03b1-L-\u30a4\u30ba\u30ed\u30cb\u30c0\u30fc\u30bc\u3068\u3044\u3046\u9175\u7d20\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002\u3053\u306e\u9175\u7d20\u306f\u3001\u7d30\u80de\u306e\u306a\u304b\u306e\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u3067\u3001\u30c7\u30eb\u30de\u30bf\u30f3\u786b\u9178\u3068\u30d8\u30d1\u30e9\u30f3\u786b\u9178\u3068\u3044\u3046\u30e0\u30b3\u591a\u7cd6\u3092\u5206\u89e3\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9175\u7d20\u306e\u306f\u305f\u3089\u304d\u304c\u5f31\u3044\u3068\u30e0\u30b3\u591a\u7cd6\u304c\u5206\u89e3\u3055\u308c\u305a\u3001\u5168\u8eab\u306e\u3055\u307e\u3056\u307e\u306a\u81d3\u5668\u306b\u305f\u307e\u3063\u3066\u3044\u304d\u307e\u3059\u3002<strong>\u3069\u308c\u304f\u3089\u3044\u9175\u7d20\u304c\u6b8b\u3063\u3066\u3044\u308b\u304b\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u91cd\u3055\u304c\u5909\u308f\u308a<\/strong>\u3001\u91cd\u3044\u9806\u306b\u30cf\u30fc\u30e9\u30fc\u578b\u30fb\u30cf\u30fc\u30e9\u30fc\/\u30b7\u30e3\u30a4\u30a8\u578b\u30fb\u30b7\u30e3\u30a4\u30a8\u578b\u3068\u547c\u3073\u5206\u3051\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u624b\u6307\u306e\u95a2\u7bc0\u304c\u786c\u304f\u306a\u308b\uff08\u304b\u304e\u722a\u306e\u3088\u3046\u306a\u624b\uff09\u3001\u624b\u6839\u7ba1\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>\u89d2\u819c\u306e\u6fc1\u308a\uff08\u8996\u529b\u4f4e\u4e0b\u306e\u539f\u56e0\u306b\u306a\u308a\u307e\u3059\uff09<\/li>\n\n\n\n<li>\u5fc3\u81d3\u306e\u5f01\u306e\u7570\u5e38\uff08\u5927\u52d5\u8108\u5f01\u72ed\u7a84\u30fb\u50e7\u5e3d\u5f01\u9589\u9396\u4e0d\u5168\uff09<\/li>\n\n\n\n<li>\u95a2\u7bc0\u306e\u75db\u307f\u3001\u52d5\u304b\u305b\u308b\u7bc4\u56f2\u306e\u5236\u9650<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u306a\u767a\u9054\u306f\u6b63\u5e38\u3001\u8eab\u9577\u3082\u307b\u307c\u6b63\u5e38<\/strong><\/li>\n\n\n\n<li>\u6c17\u9053\u304c\u72ed\u304f\u306a\u308a\u3001\u7761\u7720\u6642\u7121\u547c\u5438\u3092\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308b<\/li>\n\n\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad<\/h2>\n\n\n\n<p>\u5c3f\u4e2d\u306e\u30e0\u30b3\u591a\u7cd6\uff08\u30c7\u30eb\u30de\u30bf\u30f3\u786b\u9178\u30fb\u30d8\u30d1\u30e9\u30f3\u786b\u9178\uff09\u306e\u5897\u52a0\u3092\u8abf\u3079\u3001\u767d\u8840\u7403\u3084\u57f9\u990a\u3057\u305f\u76ae\u819a\u306e\u7d30\u80de\u3067\u03b1-L-\u30a4\u30ba\u30ed\u30cb\u30c0\u30fc\u30bc\u306e\u9175\u7d20\u6d3b\u6027\u3092\u6e2c\u5b9a\u3057\u3066\u8a3a\u65ad\u3057\u307e\u3059\u3002<strong>IDUA<\/strong> \u907a\u4f1d\u5b50\u306e\u89e3\u6790\u306b\u3088\u3063\u3066\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9175\u7d20\u88dc\u5145\u7642\u6cd5<\/strong>\uff08\u30e9\u30ed\u30cb\u30c0\u30fc\u30bc\uff0f\u30a2\u30a6\u30c9\u30e9\u30b6\u30a4\u30e0\u00ae\u306e\u70b9\u6ef4\uff09<\/li>\n\n\n\n<li>\u89d2\u819c\u79fb\u690d\u3001\u5fc3\u81d3\u5f01\u306e\u624b\u8853\u3001\u624b\u6839\u7ba1\u306e\u624b\u8853<\/li>\n\n\n\n<li>\u7406\u5b66\u7642\u6cd5<\/li>\n\n\n\n<li>\u5b9a\u671f\u7684\u306a\u5fc3\u30a8\u30b3\u30fc\u3001\u773c\u79d1\u30fb\u6574\u5f62\u5916\u79d1\u306e\u8a3a\u5bdf<\/li>\n\n\n<\/ul>\n\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\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>IDUA<\/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\u306e2\u3064\u306e\u691c\u67fb\u3092\u3054\u7528\u610f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\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\n<p>\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>IDUA<\/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\n<h3 class=\"wp-block-heading\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\uff08228\u7a2e\u985e\uff09<\/h3>\n\n\n\n<p>\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>4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u304a\u5b50\u3055\u307e\u304c\u767a\u75c7\u3057\u307e\u3059\u3002\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\u3067\u306f\u3001\u3054\u592b\u5a66\u304c\u3053\u306e\u75be\u60a3\u306e\u30ad\u30e3\u30ea\u30a2\u304b\u3069\u3046\u304b\u3092\u982c\u306e\u5185\u5074\u306e\u7c98\u819c\u304b\u3089\u8abf\u3079\u3001<strong>\u304a\u5b50\u3055\u307e\u306b\u53d7\u3051\u7d99\u304c\u308c\u308b\u53ef\u80fd\u6027\u3092\u3001\u598a\u5a20\u524d\u3084\u51fa\u751f\u524d\u306b\u4e88\u6e2c\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059<\/strong>\u3002<\/p>\n\n\n\n<p>\u691c\u67fb\u306e\u5185\u5bb9\u30fb\u8cbb\u7528\u30fb\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f <a href=\"\/nipt\/nipt\/autosomal-recessive-inheritance\/\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8228<\/a> \u306e\u30da\u30fc\u30b8\u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n\n<p>\u30b7\u30e3\u30a4\u30a8\u578b\u306f\u6b8b\u5b58\u9175\u7d20\u6d3b\u6027\u304c\u6bd4\u8f03\u7684\u4fdd\u305f\u308c\u305f\u8efd\u75c7\u578b\u3067\u3001\u4ee5\u524d\u306f\u30e0\u30b3\u591a\u7cd6\u75c7V\u578b\u3068\u5206\u985e\u3055\u308c\u3066\u3044\u305f\u3002\u4e2d\u67a2\u795e\u7d4c\u969c\u5bb3\u3092\u6b20\u304d\u3001\u77e5\u80fd\u30fb\u8eab\u9577\u3068\u3082\u306b\u307b\u307c\u6b63\u5e38\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u521d\u767a\u75c7\u72b6\u306f\u624b\u6839\u7ba1\u75c7\u5019\u7fa4\u3084\u95a2\u7bc0\u62d8\u7e2e\u3001\u89d2\u819c\u6df7\u6fc1\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u30ea\u30a6\u30de\u30c1\u6027\u75be\u60a3\u3068\u8aa4\u3089\u308c\u3066\u8a3a\u65ad\u304c\u9045\u308c\u308b\u4f8b\u304c\u5c11\u306a\u304f\u306a\u3044\u3002<strong>\u82e5\u5e74\u767a\u75c7\u306e\u4e21\u5074\u624b\u6839\u7ba1\u75c7\u5019\u7fa4\u306f\u672c\u75c7\u3092\u7591\u3046\u5951\u6a5f\u3068\u306a\u308b<\/strong>\u3002<\/p>\n\n\n\n<p>\u5fc3\u5f01\u819c\u75c7\uff08\u3068\u304f\u306b\u5927\u52d5\u8108\u5f01\uff09\u306f\u9032\u884c\u6027\u3067\u3001\u6210\u4eba\u671f\u306b\u5f01\u7f6e\u63db\u3092\u8981\u3059\u308b\u3053\u3068\u304c\u3042\u308b\u3002\u9175\u7d20\u88dc\u5145\u7642\u6cd5\u306f\u8eab\u4f53\u75c7\u72b6\u306e\u9032\u884c\u6291\u5236\u306b\u7528\u3044\u3089\u308c\u308b\u304c\u3001\u89d2\u819c\u3068\u5fc3\u81d3\u5f01\u3078\u306e\u52b9\u679c\u306f\u9650\u5b9a\u7684\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u3069\u3093\u306a\u304d\u3063\u304b\u3051\u3067\u898b\u3064\u304b\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u82e5\u3044\u3046\u3061\u306b\u4e21\u624b\u306e\u624b\u6839\u7ba1\u75c7\u5019\u7fa4\u304c\u51fa\u305f\u3001\u89d2\u819c\u304c\u6fc1\u3063\u3066\u304d\u305f\u3001\u5fc3\u81d3\u306e\u5f01\u306b\u7570\u5e38\u304c\u898b\u3064\u304b\u3063\u305f\u3001\u3068\u3044\u3063\u305f\u3053\u3068\u304c\u304d\u3063\u304b\u3051\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u77e5\u7684\u306a\u767a\u9054\u3084\u8eab\u9577\u306b\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u3053\u306e\u578b\u3067\u306f\u77e5\u7684\u306a\u767a\u9054\u306f\u6b63\u5e38\u3067\u3001\u8eab\u9577\u3082\u307b\u307c\u6b63\u5e38\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u5927\u4eba\u306b\u306a\u3063\u3066\u304b\u3089\u8a3a\u65ad\u3055\u308c\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u3042\u308a\u307e\u3059\u3002\u75c7\u72b6\u304c\u3086\u3063\u304f\u308a\u9032\u3080\u305f\u3081\u3001\u6210\u4eba\u671f\u306b\u8a3a\u65ad\u3055\u308c\u308b\u65b9\u3082\u3044\u3089\u3063\u3057\u3083\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u6cbb\u7642\u306f\u5fc5\u8981\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u9175\u7d20\u88dc\u5145\u7642\u6cd5\u306b\u3088\u3063\u3066\u9032\u884c\u3092\u6291\u3048\u308b\u3053\u3068\u304c\u671f\u5f85\u3067\u304d\u307e\u3059\u3002\u3042\u308f\u305b\u3066\u3001\u5fc3\u81d3\u30fb\u76ee\u30fb\u95a2\u7bc0\u306e\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u6cbb\u7642\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u30cf\u30fc\u30e9\u30fc\u578b\u306e\u5bb6\u65cf\u304c\u3044\u307e\u3059\u3002\u540c\u3058\u75c5\u6c17\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u540c\u3058 <strong>IDUA<\/strong> \u907a\u4f1d\u5b50\u304c\u539f\u56e0\u3067\u3059\u304c\u3001\u6b8b\u3063\u3066\u3044\u308b\u9175\u7d20\u306e\u306f\u305f\u3089\u304d\u306e\u91cf\u306b\u3088\u3063\u3066\u91cd\u3055\u304c\u5909\u308f\u308a\u307e\u3059\u3002\u3054\u5bb6\u65cf\u5185\u3067\u578b\u304c\u7570\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Scott HS, Bunge S, Gal A, et al. Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. <em>Hum Mutat<\/em>. 1995;6(4):288-302.<\/li>\n\n\n\n<li>Clarke LA. Mucopolysaccharidosis Type I. In: <em>GeneReviews\u00ae<\/em>. University of Washington, Seattle.<\/li>\n\n\n\n<li>Muenzer J, Wraith JE, Clarke LA. Mucopolysaccharidosis I: management and treatment guidelines. <em>Pediatrics<\/em>. 2009;123(1):19-29.<\/li>\n\n\n\n<li>Aldenhoven M, Wynn RF, Orchard PJ, et al. Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study. <em>Blood<\/em>. 2015;125(13):2164-2172.<\/li>\n\n\n\n<li>OMIM #607014 \/ #607015 \/ #607016 Mucopolysaccharidosis type I<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136668","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\/136668","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":1,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136668\/revisions"}],"predecessor-version":[{"id":137038,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136668\/revisions\/137038"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136668"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}