{"id":60199,"date":"2023-08-24T16:02:39","date_gmt":"2023-08-24T07:02:39","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=60199"},"modified":"2026-05-08T12:52:00","modified_gmt":"2026-05-08T03:52:00","slug":"autoimmune-polyendocrine-gland-syndrome-type1","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autoimmune-polyendocrine-gland-syndrome-type1\/","title":{"rendered":"\u81ea\u5df1\u514d\u75ab\u6027\u591a\u5185\u5206\u6ccc\u817a\u75c7\u5019\u7fa4 1\u578b"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\" id=\"\u6982\u8981\">\u6982\u8981<\/h2>\n\n\n\n<p>\u591a\u817a\u6027\u81ea\u5df1\u514d\u75ab\u75c7\u5019\u7fa4(Autoimmune polyglandular syndrome: APS)\u3068\u306f\u3001\u81ea\u5df1\u514d\u75ab\u6027\u306e\u75c5\u614b\u306b\u3088\u308a\u8907\u6570\u306e\u5185\u5206\u6ccc\u5668\u5b98\u304c\u969c\u5bb3\u3055\u308c\u308b\u4e00\u7fa4\u306e\u75be\u60a3\u306e\u7dcf\u79f0\u3067\u3059\u3002\u672c\u75c7\u5019\u7fa4\u306f\u3001I\u578b\u3001II\u578b\u3001III\u578b\u306e3\u3064\u306e\u578b\u306b\u81e8\u5e8a\u5206\u985e\u3055\u308c\u3066\u3044\u307e\u3059\u3002ASP I\u578b\u306f,\u5c0f\u5150\u671f\u306b\u767a\u75c7\u3057\u3001\u7c98\u819c\u76ae\u819a\u30ab\u30f3\u30b8\u30c0\u75c7\u3001\u526f\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u3001\u526f\u814e\u4e0d\u5168(\u30a2\u30b8\u30bd\u30f3\u75c5)\u30923\u5fb4\u3068\u79f0\u3057\u307e\u3059\u3002\u5225\u79f0\u3068\u3057\u3066Autoimmune polyendocrinopathy-candidiasis-ectodermal syndrome\uff08APECED\uff09\u3068\u3082\u547c\u3070\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 id=\"\u75ab\u5b66\">\u75ab\u5b66<\/h2>\n\n\n\n<p>\u4e16\u754c\u7684\u306b\u7a00\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u5e74\u9593\u767a\u751f\u983b\u5ea6\u306f&lt;1\/100,000\u51fa\u751f\u3067\u3059\u3002\u30a4\u30e9\u30f3\u7cfb\u30e6\u30c0\u30e4\u4eba(1\/9,000)\u3001\u30d5\u30a3\u30f3\u30e9\u30f3\u30c9\u4eba(1\/25,000)\u3001\u30b5\u30eb\u30c7\u30fc\u30cb\u30e3\u5cf6\u30a4\u30bf\u30ea\u30a2\u4eba(1\/14,400)\u3001\u306a\u3069\u306e\u6c11\u65cf\u96c6\u56e3\u3067\u6bd4\u8f03\u7684\u9ad8\u983b\u5ea6\u3067\u3042\u308b\u304c\u3001\u4e16\u754c\u4e2d\u3067\u7d04500\u4f8b\u306e\u5831\u544a\u306b\u3068\u3069\u307e\u308b\u3002\u983b\u5ea6\u306e\u9ad8\u3044\u907a\u4f1d\u5b50\u5909\u7570\u3068\u3057\u3066\u3001R257X\uff08\u30d5\u30a3\u30f3\u30e9\u30f3\u30c9\u4eba\uff09Y85C\uff08\u30a4\u30e9\u30f3\u7cfb\u30e6\u30c0\u30e4\u4eba\uff09R139X\uff08\u30b5\u30eb\u30c7\u30fc\u30cb\u30e3\u5cf6\u30a4\u30bf\u30ea\u30a2\u4eba\uff09\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"\u539f\u56e0\">\u539f\u56e0<\/h2>\n\n\n\n<p>\u75c5\u56e0 \u81ea\u5df1\u514d\u75ab\u8abf\u7bc0\u907a\u4f1d\u5b50 AIRE \u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u591a\u81d3\u5668\u81ea\u5df1\u514d\u75ab\u75be\u60a3\u3067\u3059\u3002\u4e00\u822c\u7684\u306b\u306f\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u306e\u907a\u4f1d\u578b\u5f0f\u3092\u3068\u308b\u304c\u3001\u512a\u6027\u907a\u4f1d\u5f62\u5f0f\u306e\u5bb6\u7cfb\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u539f\u56e0\u907a\u4f1d\u5b50 AIRE\u907a\u4f1d\u5b50\u306f\u300121\u756a\u67d3\u8272\u4f53\u9577\u8155(21q22.3)\u306b\u4f4d\u7f6e\u3057\u300114\u30a8\u30ad\u30bd\u30f3\u304b\u3089\u69cb\u6210\u3055\u308c\u308b\u3001\u5168\u9577\u304c\u7d0413kb\u306e\u907a\u4f1d\u5b50\u3067\u3059\u3002AIRE\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u6a5f\u80fd 545\u30a2\u30df\u30ce\u9178\u304b\u3089\u69cb\u6210\u3055\u308c\u308bAIRE\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u8ee2\u5199\u56e0\u5b50\u3068\u8003\u3048\u3089\u308c\u3066\u304a\u308a\u3001\u80f8\u817a\u306e\u9ac4\u8cea\u4e0a\u76ae\u7d30\u80de\uff08mTEC\uff09\u3084\u672b\u68a2\u8840\u4e2d\u306e\u5358\u7403\u3084\u5206\u5316\u3057\u305f\u6a39\u72b6\u7d30\u80de\u306b\u767a\u73fe\u3057\u3001\u514d\u75ab\u5bdb\u5bb9\u306e\u6210\u7acb\u306b\u6df1\u304f\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002mTEC \u5185\u306eAIRE\u6a5f\u80fd\u4f4e\u4e0b\u306f\u80f8\u817a\u306b\u304a\u3051\u308b\u591a\u304f\u306e\u7d44\u7e54\u7279\u7570\u7684\u6297\u539f\u306e\u767a\u73fe\u3092\u4f4e\u4e0b\u3055\u305b\u3001\u305d\u306e\u7d50\u679c\u3001\u81ea\u5df1\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306b\u5bfe\u3057\u3066\u53cd\u5fdc\u3057\u306a\u3044\u3088\u3046\u306b\u3059\u308b\u6559\u80b2\uff08\u8ca0\u306e\u9078\u629e\uff09\u304c\u4e0d\u5341\u5206\u3068\u306a\u308a\u3001\u6b63\u3057\u304f\u6559\u80b2\u3055\u308c\u3066\u3044\u306a\u3044T\u30ea\u30f3\u30d1\u7403\u304c\u672b\u68a2\u306b\u51fa\u73fe\u3059\u308b\u3053\u3068\u306b\u306a\u308a\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u69d8\u3005\u306a\u81d3\u5668\u306b\u5bfe\u3059\u308b\u81ea\u5df1\u514d\u75ab\u53cd\u5fdc\u304c\u60f9\u8d77\u3055\u308c\u308b\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<!-- CTA Button\n\n<figure class=\"cta-btn\">\n<div class=\"cta-img\">\n<img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2023\/02\/button_pc.png\" alt=\"\u539f\u56e0\">\n<\/div>\n<div class=\"button-1\">\n<img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2023\/03\/cta-btn-orng-1.png\">\n<img decoding=\"async\" class=\"button-2\" src=\"\/nipt\/wp-content\/uploads\/2023\/02\/cta-btn-down.png\" alt=\"blue-btn\">\n<\/div>\n<\/figure>\n-->\n<style>\n.cta-btn {\n  display: flex;\n  flex-direction: column;\n  align-items: center;\n}\n\n.cta-img {\n  width: 400px;\n  height: auto;\n  padding-top: 3em;\n}\n\n.button-1 {\n  display: flex;\n  flex-direction: column;\n  position: absolute;\n  margin-top: 215px;\n  width: 340px;\n  height: auto;\n}\n\n.button-2 {\n  width: 450px;\n  height: auto;\n}\n<\/style>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"\u75c7\u72b6\">\u75c7\u72b6<\/h2>\n\n\n\n<p>\u767a\u75c7\u6642\u671f\u3068\u75c7\u72b6 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\u7c98\u819c\u76ae\u819a\u30ab\u30f3\u30b8\u30c0\u75c7\u3001\u526f\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u3001\u526f\u814e\u4e0d\u5168(\u30a2\u30b8\u30bd\u30f3\u75c5)\u306e3\u5fb4\u306e\u3046\u3061\u5c11\u306a\u304f\u3068\u30822\u3064\u3092\u6e80\u305f\u3059\u4e8b\u304c\u8a3a\u65ad\u306b\u306f\u5fc5\u8981\u3067\u3059\u3002<br>\n2. \u907a\u4f1d\u5b50\u8a3a\u65ad \u672c\u75be\u60a3\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u540c\u5b9a\u3055\u308c\u305f\u3053\u3068\u3088\u308a\u3001\u907a\u4f1d\u5b50\u8a3a\u65ad\u304c\u4eca\u5f8c\u91cd\u8981\u306a\u78ba\u5b9a\u8a3a\u65ad\u306e\u305f\u3081\u306e\u691c\u67fb\u3068\u306a\u308b\u3068\u8003\u3048\u3089\u308c\u307e\u3059\u3002\u524d\u8ff0\u306e\u3088\u3046\u306b\u7279\u5b9a\u306e\u6c11\u65cf\u96c6\u56e3\u306b\u304a\u3044\u3066\u306f\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u5909\u7570\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u305d\u306e\u5834\u5408\u306e\u907a\u4f1d\u5b50\u89e3\u6790\u306f\u3001\u7c21\u4fbf\u306b\u78ba\u5b9a\u8a3a\u65ad\u3092\u884c\u3046\u305f\u3081\u306b\u6709\u7528\u3067\u3059\u3002<br>\n3. \u6297\u4f53\u691c\u67fb \u60a3\u8005\u8840\u6e05\u306b\u306f\u3001\u7f79\u60a3\u81d3\u5668\u306e\u69cb\u6210\u6210\u5206\u306b\u5bfe\u3059\u308b\u81ea\u5df1\u6297\u4f53\u306e\u9ad8\u5024\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002\u4e3b\u306b\u7d30\u80de\u5185\u9175\u7d20\u306b\u5bfe\u3059\u308b\u591a\u304f\u306e\u81ea\u5df1\u6297\u4f53\u304c\u540c\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u6700\u521d\u306e\u526f\u814e\u81ea\u5df1\u6297\u539f\u306f\u3001\u30b9\u30c6\u30ed\u30a4\u30c9\u5408\u6210\u9175\u7d20\u306eP450\u30b9\u30fc\u30d1\u30fc\u30d5\u30a1\u30df\u30ea\u30fc\u306b\u304a\u3044\u3066\u540c\u5b9a\u3055\u308c\u307e\u3057\u305f\u3002\u3059\u306a\u308f\u3061\u3001Steroid 17-apha hydroxylase (P450c17), steroid 21 hudroxylase (P450c21), \u5074\u9396\u5206\u89e3\u9175\u7d20(P450scc)\u306b\u5bfe\u3059\u308b\u81ea\u5df1\u6297\u4f53\u3067\u3059\u3002\u307e\u305f\u3001\u30b0\u30eb\u30bf\u30df\u30f3\u9178\u8131\u6c34\u7d20\u9175\u7d20(GAD65)\u306f1\u578b\u7cd6\u5c3f\u75c5\u306b\u7279\u7570\u7684\u3067\u3042\u308a\u3001\u7532\u72b6\u817a\u30da\u30eb\u30aa\u30ad\u30b7\u30c0\u30fc\u30bc\u3084\u30b5\u30a4\u30ed\u30b0\u30ed\u30d6\u30ea\u30f3\u306b\u5bfe\u3059\u308b\u81ea\u5df1\u6297\u4f53\u306f\u3001\u7532\u72b6\u817a\u708e\u306b\u95a2\u9023\u3057\u307e\u3059\u3002\u80c3\u8178\u6a5f\u80fd\u969c\u5bb3\uff08\u5438\u53ce\u4e0d\u5168\uff09\u306f\u3001\u80c3\u524d\u5ead\u90e8\u306e\u30bb\u30ed\u30c8\u30cb\u30f3\u7523\u751f\u30af\u30ed\u30e0\u89aa\u548c\u6027\u7d30\u80de\u306b\u304a\u3051\u308b\u30c8\u30ea\u30d7\u30c8\u30d5\u30a1\u30f3\u6c34\u9178\u5316\u9175\u7d20\u306b\u5bfe\u3059\u308b\u81ea\u5df1\u514d\u75ab\u53cd\u5fdc\u304c\u5bc4\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u6700\u3082\u983b\u5ea6\u306e\u9ad8\u3044\u81ea\u5df1\u514d\u75ab\u6027\u5185\u5206\u6ccc\u75be\u60a3\u3067\u3042\u308b\u526f\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u306e\u8cac\u4efb\u81ea\u5df1\u6297\u539f\u306fNACHT \u30ed\u30a4\u30b7\u30f3\u30ea\u30c3\u30c1\u30ea\u30d4\u30fc\u30c8\u86cb\u767d 5\uff08NALP5\uff09\u3067\u3042\u308a\u3001\u60a3\u8005\u8840\u6e05\u306b\u306f\u9ad8\u3044\u5272\u5408\u3067\u6297NALP5\u6297\u4f53\u304c\u8a3c\u660e\u3055\u308c\u307e\u3059\u3002\u3055\u3089\u306b\u6700\u8fd1\u306e\u5831\u544a\u3067\u306f\u3001\u8840\u6e05\u4e2d\u306e1\u578b\u30a4\u30f3\u30bf\u30fc\u30d5\u30a7\u30ed\u30f3\uff08interferon-alpha2, interferon omega\uff09\u306b\u5bfe\u3059\u308b\u6297\u4f53\u5024\u306e\u4e0a\u6607\u304c\u3001\u672c\u75be\u60a3\u306b\u5bfe\u3057\u3066\u7279\u7570\u5ea6\u30fb\u611f\u5ea6\u3068\u3082\u306b\u9ad8\u304f\u3001\u8a3a\u65ad\u7684\u4fa1\u5024\u304c\u3042\u308b\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u65e5\u672c\u3067\u306f\u591a\u304f\u306e\u7a2e\u985e\u306e\u6297\u4f53\u306e\u6e2c\u5b9a\u304c\u5065\u5eb7\u4fdd\u967a\u9069\u7528\u5916\u691c\u67fb\u3001\u3042\u308b\u3044\u306f\u7814\u7a76\u691c\u67fb\u3067\u3042\u308a\uff0c\u81e8\u5e8a\u7684\u306a\u5229\u7528\u306f\u9650\u5b9a\u7684\u3067\u3059\u3002<\/p>\n\n\n\n<h2 id=\"\u6cbb\u7642\">\u6cbb\u7642<\/h2>\n\n\n\n<p>\u5bfe\u75c7\u7642\u6cd5\u3068\u306a\u308a\u307e\u3059\u3002\u5185\u5206\u6ccc\u75be\u60a3\u306b\u95a2\u3057\u3066\u306f\u3001\u7532\u72b6\u817a\u6a5f\u80fd\u4ea2\u9032\u75c7\u3092\u9664\u304d\u3001\u5404\u7a2e\u30db\u30eb\u30e2\u30f3\u306e\u88dc\u5145\u7642\u6cd5\u3067\u5bfe\u5fdc\u3057\u307e\u3059\u3002\u30ab\u30f3\u30b8\u30c0\u75c7\u306b\u5bfe\u3057\u3066\u306f\u3001\u6297\u771f\u83cc\u5264\u6cbb\u7642\u304c\u9069\u5fdc\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<!--<h2 id=\"\u4e88\u5f8c\">\u4e88\u5f8c<\/h2>-->\n\n\n\n<!--<p>\u751f\u5f8c1\u5e74\u4ee5\u5185\u306e\u6b7b\u4ea1\u304c\u4e00\u822c\u7684\u3067\u3059\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<p>\u3010\u53c2\u8003\u6587\u732e\u3011<\/p>\n\n\n\n<p>\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc &#8211; <a 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