{"id":136667,"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=136667"},"modified":"2026-09-08T12:23:01","modified_gmt":"2026-09-08T03:23:01","slug":"mucopolysaccharidosis-ih-s-idua","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mucopolysaccharidosis-ih-s-idua\/","title":{"rendered":"\u30e0\u30b3\u591a\u7cd6\u75c7I\u578b \u30cf\u30fc\u30e9\u30fc\u30fb\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 \u30cf\u30fc\u30e9\u30fc\u30fb\u30b7\u30e3\u30a4\u30a8\u578b\uff08Hurler-Scheie syndrome\uff09\u306f\u3001\u30e0\u30b3\u591a\u7cd6\u75c7I\u578b\u306e\u306a\u304b\u3067<strong>\u75c7\u72b6\u306e\u91cd\u3055\u304c\u4e2d\u9593\u306b\u3042\u305f\u308b\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>\u4f53\u306e\u75c7\u72b6\u306f\u30cf\u30fc\u30e9\u30fc\u578b\u3068\u4f3c\u3066\u3044\u307e\u3059\u304c\u3001<strong>\u77e5\u7684\u306a\u767a\u9054\u306f\u4fdd\u305f\u308c\u308b\u304b\u3001\u5f71\u97ff\u304c\u3042\u3063\u3066\u3082\u308f\u305a\u304b<\/strong>\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u70b9\u304c\u7570\u306a\u308a\u307e\u3059\u3002\u9175\u7d20\u88dc\u5145\u7642\u6cd5\u304c\u6cbb\u7642\u306e\u4e2d\u5fc3\u306b\u306a\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>\u5e7c\u5150\u671f\u304b\u3089\u5b66\u7ae5\u671f\u306b\u304b\u3051\u3066\u76ee\u7acb\u3063\u3066\u304f\u308b\u95a2\u7bc0\u306e\u786c\u3055\u3001\u4f4e\u8eab\u9577<\/li>\n\n\n\n<li>\u89d2\u819c\u306e\u6fc1\u308a<\/li>\n\n\n\n<li>\u5fc3\u81d3\u306e\u5f01\u306e\u7570\u5e38\uff08\u50e7\u5e3d\u5f01\u30fb\u5927\u52d5\u8108\u5f01\uff09<\/li>\n\n\n\n<li>\u809d\u81d3\u30fb\u813e\u81d3\u304c\u5927\u304d\u304f\u306a\u308b<\/li>\n\n\n\n<li>\u96e3\u8074\u3001\u304f\u308a\u8fd4\u3059\u6c17\u9053\u611f\u67d3\u3001\u7761\u7720\u6642\u7121\u547c\u5438<\/li>\n\n\n\n<li>\u624b\u6839\u7ba1\u75c7\u5019\u7fa4\u3001\u810a\u9ac4\u306e\u5727\u8feb<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u306a\u767a\u9054\u306f\u304a\u304a\u3080\u306d\u4fdd\u305f\u308c\u308b<\/strong><\/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\u3002\u6cbb\u7642\u306e\u4e2d\u5fc3\u3067\u3059\uff09<\/li>\n\n\n\n<li>\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li>\u5fc3\u81d3\u306e\u5f01\u3001\u89d2\u819c\u3001\u624b\u6839\u7ba1\u3001\u810a\u9ac4\u306e\u5727\u8feb\u306b\u5bfe\u3059\u308b\u624b\u8853<\/li>\n\n\n\n<li>\u7406\u5b66\u7642\u6cd5\u3001\u547c\u5438\u306e\u30b5\u30dd\u30fc\u30c8\u3001\u5b9a\u671f\u7684\u306a\u5fc3\u30a8\u30b3\u30fc\u30fb\u8074\u529b\u691c\u67fb<\/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>\u30cf\u30fc\u30e9\u30fc\/\u30b7\u30e3\u30a4\u30a8\u578b\u306f\u3001\u30cf\u30fc\u30e9\u30fc\u578b\u3068\u30b7\u30e3\u30a4\u30a8\u578b\u306e\u4e2d\u9593\u306e\u6b8b\u5b58\u9175\u7d20\u6d3b\u6027\u3092\u6709\u3059\u308b\u8868\u73fe\u578b\u3067\u300110\u6b73\u524d\u5f8c\u307e\u3067\u306b\u8a3a\u65ad\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3002\u4e2d\u67a2\u795e\u7d4c\u306e\u5b9f\u8cea\u75c5\u5909\u306f\u8efd\u5fae\u304b\u8a8d\u3081\u306a\u3044\u4e00\u65b9\u3001\u9aa8\u95a2\u7bc0\u75c5\u5909\u30fb\u5fc3\u5f01\u819c\u75c7\u30fb\u89d2\u819c\u6df7\u6fc1\u30fb\u6c17\u9053\u72ed\u7a84\u306f\u9032\u884c\u3059\u308b\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306e\u4e3b\u4f53\u306f\u30e9\u30ed\u30cb\u30c0\u30fc\u30bc\u306b\u3088\u308b\u9175\u7d20\u88dc\u5145\u7642\u6cd5\u3067\u30016\u5206\u9593\u6b69\u884c\u8ddd\u96e2\u3001\u52aa\u529b\u80ba\u6d3b\u91cf\u3001\u809d\u813e\u816b\u306e\u6539\u5584\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002\u305f\u3060\u3057\u9aa8\u30fb\u8edf\u9aa8\u3001\u89d2\u819c\u3001\u5fc3\u81d3\u5f01\u3078\u306e\u5230\u9054\u6027\u306f\u9650\u5b9a\u7684\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u4e2d\u67a2\u795e\u7d4c\u969c\u5bb3\u3092\u4f34\u308f\u306a\u3044\u305f\u3081\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\u306e\u9069\u5fdc\u306f\u500b\u5225\u5224\u65ad\u3068\u306a\u308b\u304c\u3001\u9032\u884c\u4f8b\u3067\u306f\u691c\u8a0e\u3055\u308c\u308b\u3002\u9838\u690e\u306e\u4e0d\u5b89\u5b9a\u6027\u3068\u810a\u9ac4\u5727\u8feb\u306f\u672c\u578b\u3067\u3082\u751f\u3058\u308b\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u753b\u50cf\u8a55\u4fa1\u304c\u63a8\u5968\u3055\u308c\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. \u30cf\u30fc\u30e9\u30fc\u578b\u3068\u3069\u3046\u9055\u3046\u306e\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u9175\u7d20\u306e\u6b8b\u3063\u3066\u3044\u308b\u306f\u305f\u3089\u304d\u306e\u91cf\u304c\u9055\u3044\u307e\u3059\u3002\u30cf\u30fc\u30e9\u30fc\u30fb\u30b7\u30e3\u30a4\u30a8\u578b\u3067\u306f\u3001\u4f53\u306e\u75c7\u72b6\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u77e5\u7684\u306a\u767a\u9054\u306f\u304a\u304a\u3080\u306d\u4fdd\u305f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u9175\u7d20\u88dc\u5145\u7642\u6cd5\u306f\u3069\u306e\u3088\u3046\u306b\u884c\u3044\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u9031\u306b1\u56de\u3001\u70b9\u6ef4\u3067\u9175\u7d20\u3092\u88dc\u3044\u307e\u3059\u3002\u7d99\u7d9a\u3057\u3066\u884c\u3046\u6cbb\u7642\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u79fb\u690d\u306f\u5fc5\u8981\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u3053\u306e\u578b\u3067\u306f\u9175\u7d20\u88dc\u5145\u7642\u6cd5\u304c\u4e2d\u5fc3\u3067\u3059\u304c\u3001\u9032\u884c\u306e\u7a0b\u5ea6\u306b\u3088\u3063\u3066\u306f\u79fb\u690d\u3082\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002\u62c5\u5f53\u306e\u5148\u751f\u3068\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u5b66\u6821\u751f\u6d3b\u306f\u9001\u308c\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u77e5\u7684\u306a\u767a\u9054\u306f\u4fdd\u305f\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u95a2\u7bc0\u3084\u547c\u5438\u306e\u72b6\u614b\u306b\u914d\u616e\u3057\u306a\u304c\u3089\u901a\u5b66\u3055\u308c\u3066\u3044\u308b\u65b9\u304c\u591a\u304f\u3044\u3089\u3063\u3057\u3083\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u5b9a\u671f\u7684\u306b\u3069\u3093\u306a\u691c\u67fb\u3092\u53d7\u3051\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u5fc3\u81d3\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3001\u8074\u529b\u691c\u67fb\u3001\u773c\u79d1\uff08\u89d2\u819c\uff09\u3001\u6574\u5f62\u5916\u79d1\uff08\u9838\u690e\u30fb\u95a2\u7bc0\uff09\u3001\u7761\u7720\u6642\u306e\u547c\u5438\u306e\u691c\u67fb\u306a\u3069\u3067\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-136667","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\/136667","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\/136667\/revisions"}],"predecessor-version":[{"id":137037,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136667\/revisions\/137037"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136667"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}