{"id":122292,"date":"2026-01-09T17:43:49","date_gmt":"2026-01-09T08:43:49","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122292"},"modified":"2026-03-27T13:54:43","modified_gmt":"2026-03-27T04:54:43","slug":"acrodysostosis-1-prkar1a-hormone-resistance-2","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/acrodysostosis-1-prkar1a-hormone-resistance-2\/","title":{"rendered":"Alagille Syndrome 1"},"content":{"rendered":"\n<p>\u9aa8\u7cfb\u7d71\u75be\u60a3\u304a\u3088\u3073\u5185\u5206\u6ccc\u4ee3\u8b1d\u75be\u60a3\u306e\u5883\u754c\u9818\u57df\u306b\u4f4d\u7f6e\u3059\u308b\u300c\u80a2\u7aef\u9aa8\u5f62\u6210\u4e0d\u5168\u75c71\u578b\uff08Acrodysostosis 1: ACRDYS1\uff09\u300d\u306f\u3001\u6975\u3081\u3066\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u672c\u75c7\u306f\u3001\u56db\u80a2\u672b\u7aef\uff08\u624b\u8db3\uff09\u306e\u8457\u660e\u306a\u9aa8\u77ed\u7e2e\u3068\u3001\u3057\u3070\u3057\u3070\u4f75\u767a\u3059\u308b\u591a\u7a2e\u30db\u30eb\u30e2\u30f3\u62b5\u6297\u6027\u3092\u7279\u5fb4\u3068\u3057\u3001\u5206\u5b50\u751f\u7269\u5b66\u7684\u306b\u306fcAMP\uff08\u74b0\u72b6\u30a2\u30c7\u30ce\u30b7\u30f3\u4e00\u30ea\u30f3\u9178\uff09\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u7d4c\u8def\u306e\u91cd\u8981\u306a\u69cb\u6210\u8981\u7d20\u3067\u3042\u308b<strong>PRKAR1A\u907a\u4f1d\u5b50<\/strong>\u306e\u5909\u7570\u306b\u8d77\u56e0\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u304b\u3064\u3066\u306f\u81e8\u5e8a\u50cf\u306e\u307f\u3067\u5206\u985e\u3055\u308c\u3066\u3044\u305f\u3053\u306e\u75be\u60a3\u7fa4\u3082\u3001\u8fd1\u5e74\u306e\u30b2\u30ce\u30e0\u89e3\u6790\u6280\u8853\u306e\u9032\u5c55\u306b\u3088\u308a\u30011\u578b\uff08PRKAR1A\u5909\u7570\uff09\u30682\u578b\uff08PDE4D\u5909\u7570\uff09\u3068\u3044\u3046\u660e\u78ba\u306a\u5206\u5b50\u57fa\u76e4\u306b\u57fa\u3065\u304f\u5206\u985e\u304c\u53ef\u80fd\u3068\u306a\u308a\u307e\u3057\u305f\u3002\u672c\u7a3f\u3067\u306f\u30011\u578b\u306b\u7126\u70b9\u3092\u5f53\u3066\u3001\u305d\u306e\u8907\u96d1\u306a\u75c5\u614b\u751f\u7406\u3001\u81e8\u5e8a\u7684\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u3001\u305d\u3057\u3066\u5185\u5206\u6ccc\u5b66\u7684\u306a\u8ab2\u984c\u306b\u3064\u3044\u3066\u3001\u8a73\u7d30\u306a\u89e3\u8aac\u3092\u5c55\u958b\u3057\u307e\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div 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class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 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ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/acrodysostosis-1-prkar1a-hormone-resistance-2\/#%E6%A9%9F%E8%83%BD%E7%8D%B2%E5%BE%97%E5%9E%8B%E5%A4%89%E7%95%B0%EF%BC%88Gain-of-Function%EF%BC%89%E3%81%AE%E9%80%86%E8%AA%AC\" >\u6a5f\u80fd\u7372\u5f97\u578b\u5909\u7570\uff08Gain-of-Function\uff09\u306e\u9006\u8aac<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/acrodysostosis-1-prkar1a-hormone-resistance-2\/#%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F%EF%BC%9A%E5%B8%B8%E6%9F%93%E8%89%B2%E4%BD%93%E9%A1%95%E6%80%A7%EF%BC%88%E5%84%AA%E6%80%A7%EF%BC%89%E9%81%BA%E4%BC%9D\" >\u907a\u4f1d\u5f62\u5f0f\uff1a\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08\u512a\u6027\uff09\u907a\u4f1d<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/acrodysostosis-1-prkar1a-hormone-resistance-2\/#2_%E8%87%A8%E5%BA%8A%E7%9A%84%E7%89%B9%E5%BE%B4%EF%BC%9A%E9%AA%A8%E6%A0%BC%E7%B3%BB%E3%81%8A%E3%82%88%E3%81%B3%E8%A1%A8%E7%8F%BE%E5%9E%8B%E3%81%AE%E3%82%B9%E3%83%9A%E3%82%AF%E3%83%88%E3%83%A9%E3%83%A0\" >2. \u81e8\u5e8a\u7684\u7279\u5fb4\uff1a\u9aa8\u683c\u7cfb\u304a\u3088\u3073\u8868\u73fe\u578b\u306e\u30b9\u30da\u30af\u30c8\u30e9\u30e0<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/acrodysostosis-1-prkar1a-hormone-resistance-2\/#%E8%82%A2%E7%AB%AF%EF%BC%88%E6%9C%AB%E7%AB%AF%EF%BC%89%E3%81%AE%E9%AA%A8%E5%BD%A2%E6%88%90%E4%B8%8D%E5%85%A8\" >\u80a2\u7aef\uff08\u672b\u7aef\uff09\u306e\u9aa8\u5f62\u6210\u4e0d\u5168<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/acrodysostosis-1-prkar1a-hormone-resistance-2\/#%E9%A1%94%E8%B2%8C%E3%81%8A%E3%82%88%E3%81%B3%E8%BA%AB%E4%BD%93%E7%9A%84%E7%89%B9%E5%BE%B4\" >\u9854\u8c8c\u304a\u3088\u3073\u8eab\u4f53\u7684\u7279\u5fb4<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/acrodysostosis-1-prkar1a-hormone-resistance-2\/#%E7%9F%A5%E8%83%BD%E3%81%8A%E3%82%88%E3%81%B3%E7%99%BA%E9%81%94%E3%81%B8%E3%81%AE%E5%BD%B1%E9%9F%BF\" >\u77e5\u80fd\u304a\u3088\u3073\u767a\u9054\u3078\u306e\u5f71\u97ff<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/acrodysostosis-1-prkar1a-hormone-resistance-2\/#3_%E3%83%9B%E3%83%AB%E3%83%A2%E3%83%B3%E6%8A%B5%E6%8A%97%E6%80%A7%EF%BC%88Hormone_Resistance%EF%BC%89%E3%81%AE%E5%AE%9F%E6%85%8B\" >3. \u30db\u30eb\u30e2\u30f3\u62b5\u6297\u6027\uff08Hormone Resistance\uff09\u306e\u5b9f\u614b<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/acrodysostosis-1-prkar1a-hormone-resistance-2\/#%E5%A4%9A%E7%A8%AE%E3%83%9B%E3%83%AB%E3%83%A2%E3%83%B3%E6%8A%B5%E6%8A%97%E6%80%A7%E3%81%AE%E3%83%A1%E3%82%AB%E3%83%8B%E3%82%BA%E3%83%A0\" >\u591a\u7a2e\u30db\u30eb\u30e2\u30f3\u62b5\u6297\u6027\u306e\u30e1\u30ab\u30cb\u30ba\u30e0<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/acrodysostosis-1-prkar1a-hormone-resistance-2\/#%E8%A8%BA%E6%96%AD%E3%81%AE%E9%9B%A3%E3%81%97%E3%81%95%E3%81%A8%E3%80%8CResistance%E3%80%8D%E3%81%AE%E8%A7%A3%E9%87%88\" >\u8a3a\u65ad\u306e\u96e3\u3057\u3055\u3068\u300cResistance\u300d\u306e\u89e3\u91c8<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/acrodysostosis-1-prkar1a-hormone-resistance-2\/#4_%E9%91%91%E5%88%A5%E8%A8%BA%E6%96%AD%E3%81%A8%E8%A8%BA%E6%96%AD%E3%81%AE%E3%83%97%E3%83%AD%E3%82%BB%E3%82%B9%EF%BC%9A%E9%81%BA%E4%BC%9D%E5%AD%90%E8%A8%BA%E6%96%AD%E3%81%AE%E9%87%8D%E8%A6%81%E6%80%A7\" >4. \u9451\u5225\u8a3a\u65ad\u3068\u8a3a\u65ad\u306e\u30d7\u30ed\u30bb\u30b9\uff1a\u907a\u4f1d\u5b50\u8a3a\u65ad\u306e\u91cd\u8981\u6027<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/acrodysostosis-1-prkar1a-hormone-resistance-2\/#%E4%B8%BB%E3%81%AA%E9%91%91%E5%88%A5%E7%96%BE%E6%82%A3\" >\u4e3b\u306a\u9451\u5225\u75be\u60a3<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/acrodysostosis-1-prkar1a-hormone-resistance-2\/#%E8%A8%BA%E6%96%AD%E3%81%AE%E3%82%B9%E3%83%86%E3%83%83%E3%83%97\" >\u8a3a\u65ad\u306e\u30b9\u30c6\u30c3\u30d7<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/acrodysostosis-1-prkar1a-hormone-resistance-2\/#5_%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%E6%88%A6%E7%95%A5%EF%BC%9A%E5%A4%9A%E8%A7%92%E7%9A%84%E3%81%AA%E3%82%A2%E3%83%97%E3%83%AD%E3%83%BC%E3%83%81\" >5. \u6cbb\u7642\u3068\u7ba1\u7406\u6226\u7565\uff1a\u591a\u89d2\u7684\u306a\u30a2\u30d7\u30ed\u30fc\u30c1<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/acrodysostosis-1-prkar1a-hormone-resistance-2\/#%E5%86%85%E5%88%86%E6%B3%8C%E7%AE%A1%E7%90%86\" >\u5185\u5206\u6ccc\u7ba1\u7406<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/acrodysostosis-1-prkar1a-hormone-resistance-2\/#%E6%95%B4%E5%BD%A2%E5%A4%96%E7%A7%91%E7%9A%84%E3%83%BB%E4%BD%9C%E6%A5%AD%E7%99%82%E6%B3%95%E4%BB%8B%E5%85%A5\" >\u6574\u5f62\u5916\u79d1\u7684\u30fb\u4f5c\u696d\u7642\u6cd5\u4ecb\u5165<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/acrodysostosis-1-prkar1a-hormone-resistance-2\/#%E5%BF%83%E7%90%86%E3%83%BB%E7%A4%BE%E4%BC%9A%E7%9A%84%E6%94%AF%E6%8F%B4\" >\u5fc3\u7406\u30fb\u793e\u4f1a\u7684\u652f\u63f4<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/acrodysostosis-1-prkar1a-hormone-resistance-2\/#6_%E3%81%BE%E3%81%A8%E3%82%81%EF%BC%9A%E7%B2%BE%E5%AF%86%E5%8C%BB%E7%99%82%EF%BC%88%E3%83%97%E3%83%AC%E3%82%B7%E3%82%B8%E3%83%A7%E3%83%B3%E3%83%BB%E3%83%A1%E3%83%87%E3%82%A3%E3%82%B7%E3%83%B3%EF%BC%89%E3%81%B8%E3%81%AE%E5%B1%95%E6%9C%9B\" >6. \u307e\u3068\u3081\uff1a\u7cbe\u5bc6\u533b\u7642\uff08\u30d7\u30ec\u30b7\u30b8\u30e7\u30f3\u30fb\u30e1\u30c7\u30a3\u30b7\u30f3\uff09\u3078\u306e\u5c55\u671b<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E5%88%86%E5%AD%90%E7%97%85%E6%85%8B%E5%AD%A6%EF%BC%9APRKAR1A%E5%A4%89%E7%95%B0%E3%81%A8cAMP%E3%82%B7%E3%82%B0%E3%83%8A%E3%83%AB%E7%95%B0%E5%B8%B8\"><\/span><strong>1. \u5206\u5b50\u75c5\u614b\u5b66\uff1aPRKAR1A\u5909\u7570\u3068cAMP\u30b7\u30b0\u30ca\u30eb\u7570\u5e38<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u80a2\u7aef\u9aa8\u5f62\u6210\u4e0d\u5168\u75c71\u578b\u306e\u672c\u614b\u3092\u7406\u89e3\u3059\u308b\u305f\u3081\u306b\u306f\u3001\u7d30\u80de\u5185\u306e\u30bb\u30ab\u30f3\u30c9\u30e1\u30c3\u30bb\u30f3\u30b8\u30e3\u30fc\u3067\u3042\u308bcAMP\u306e\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u7cfb\u3092\u7d10\u89e3\u304f\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"PRKAR1A%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%BD%B9%E5%89%B2\"><\/span><strong>PRKAR1A\u907a\u4f1d\u5b50\u306e\u5f79\u5272<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>PRKAR1A\u306f\u3001\u30d7\u30ed\u30c6\u30a4\u30f3\u30ad\u30ca\u30fc\u30bcA\uff08PKA\uff09\u306e\u8abf\u7bc0\u30e6\u30cb\u30c3\u30c8\u3067\u3042\u308bRI\u30a2\u30eb\u30d5\u30a1\uff08\u30bf\u30a4\u30d7I\u30a2\u30eb\u30d5\u30a1\uff09\u3092\u30b3\u30fc\u30c9\u3059\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002PKA\u306f\u901a\u5e38\u30012\u3064\u306e\u8abf\u7bc0\u30e6\u30cb\u30c3\u30c8\u30682\u3064\u306e\u89e6\u5a92\u30e6\u30cb\u30c3\u30c8\u304b\u3089\u306a\u308b4\u91cf\u4f53\u3068\u3057\u3066\u5b58\u5728\u3057\u307e\u3059\u3002cAMP\u304c\u8abf\u7bc0\u30e6\u30cb\u30c3\u30c8\u306b\u7d50\u5408\u3059\u308b\u3068\u3001\u89e6\u5a92\u30e6\u30cb\u30c3\u30c8\u304c\u89e3\u653e\u3055\u308c\u3001\u6a19\u7684\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u30ea\u30f3\u9178\u5316\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u30db\u30eb\u30e2\u30f3\u5fdc\u7b54\u3084\u9aa8\u5f62\u6210\u30b7\u30b0\u30ca\u30eb\u3092\u4f1d\u9054\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A9%9F%E8%83%BD%E7%8D%B2%E5%BE%97%E5%9E%8B%E5%A4%89%E7%95%B0%EF%BC%88Gain-of-Function%EF%BC%89%E3%81%AE%E9%80%86%E8%AA%AC\"><\/span><strong>\u6a5f\u80fd\u7372\u5f97\u578b\u5909\u7570\uff08Gain-of-Function\uff09\u306e\u9006\u8aac<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>ACRDYS1\u306b\u304a\u3051\u308bPRKAR1A\u306e\u5909\u7570\u306f\u3001\u4e3b\u306b\u8abf\u7bc0\u30e6\u30cb\u30c3\u30c8\u304c\u89e6\u5a92\u30e6\u30cb\u30c3\u30c8\u3092\u904e\u5270\u306b\u6291\u5236\u3057\u7d9a\u3051\u308b\u300c\u6a5f\u80fd\u7372\u5f97\u578b\u300d\u3042\u308b\u3044\u306f\u300c\u30c9\u30df\u30ca\u30f3\u30c8\u30fb\u30cd\u30ac\u30c6\u30a3\u30d6\u52b9\u679c\u300d\u3068\u3057\u3066\u4f5c\u7528\u3057\u307e\u3059\u3002 \u5177\u4f53\u7684\u306b\u306f\u3001cAMP\u304c\u7d50\u5408\u3057\u3066\u3082\u8abf\u7bc0\u30e6\u30cb\u30c3\u30c8\u304c\u89e6\u5a92\u30e6\u30cb\u30c3\u30c8\u3092\u96e2\u3055\u306a\u304f\u306a\u308b\u305f\u3081\u3001\u7d30\u80de\u5185\u3067\u306fcAMP\u6fc3\u5ea6\u304c\u4e0a\u6607\u3057\u3066\u3044\u308b\u306b\u3082\u304b\u304b\u308f\u3089\u305a\u3001\u4e0b\u6d41\u3078\u306e\u30b7\u30b0\u30ca\u30eb\u304c\u906e\u65ad\u3055\u308c\u308b\u300c\u7d30\u80de\u5185\u60c5\u5831\u4f1d\u9054\u306e\u4e0d\u5168\u300d\u304c\u751f\u3058\u307e\u3059\u3002\u3053\u308c\u304c\u3001\u5f8c\u8ff0\u3059\u308b\u30db\u30eb\u30e2\u30f3\u62b5\u6297\u6027\u306e\u5206\u5b50\u30e1\u30ab\u30cb\u30ba\u30e0\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F%EF%BC%9A%E5%B8%B8%E6%9F%93%E8%89%B2%E4%BD%93%E9%A1%95%E6%80%A7%EF%BC%88%E5%84%AA%E6%80%A7%EF%BC%89%E9%81%BA%E4%BC%9D\"><\/span><strong>\u907a\u4f1d\u5f62\u5f0f\uff1a\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08\u512a\u6027\uff09\u907a\u4f1d<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u672c\u75c7\u306f\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u3002\u591a\u304f\u306e\u75c7\u4f8b\u306f\u3001\u4e21\u89aa\u306b\u7570\u5e38\u3092\u8a8d\u3081\u306a\u3044de novo\uff08\u7a81\u7136\u5909\u7570\uff09\u3068\u3057\u3066\u767a\u751f\u3057\u307e\u3059\u304c\u3001\u5bb6\u7cfb\u5185\u767a\u75c7\u306e\u5831\u544a\u3082\u5b58\u5728\u3057\u307e\u3059\u30021\u578b\u306e\u5909\u7570\u90e8\u4f4d\u306fPRKAR1A\u306e\u7279\u5b9a\u306e\u30c9\u30e1\u30a4\u30f3\uff08cAMP\u7d50\u5408\u90e8\u4f4d\uff09\u306b\u96c6\u4e2d\u3057\u3066\u304a\u308a\u3001\u3053\u308c\u304c2\u578b\uff08PDE4D\u5909\u7570\uff09\u3068\u306e\u81e8\u5e8a\u7684\u306a\u91cd\u75c7\u5ea6\u306e\u5dee\u3092\u751f\u3080\u8981\u56e0\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E8%87%A8%E5%BA%8A%E7%9A%84%E7%89%B9%E5%BE%B4%EF%BC%9A%E9%AA%A8%E6%A0%BC%E7%B3%BB%E3%81%8A%E3%82%88%E3%81%B3%E8%A1%A8%E7%8F%BE%E5%9E%8B%E3%81%AE%E3%82%B9%E3%83%9A%E3%82%AF%E3%83%88%E3%83%A9%E3%83%A0\"><\/span><strong>2. \u81e8\u5e8a\u7684\u7279\u5fb4\uff1a\u9aa8\u683c\u7cfb\u304a\u3088\u3073\u8868\u73fe\u578b\u306e\u30b9\u30da\u30af\u30c8\u30e9\u30e0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u80a2\u7aef\u9aa8\u5f62\u6210\u4e0d\u5168\u75c7\u3068\u3044\u3046\u540d\u79f0\u304c\u793a\u3059\u901a\u308a\u3001\u6700\u3082\u9855\u8457\u306a\u7279\u5fb4\u306f\u624b\u8db3\u306e\u9aa8\u683c\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%82%A2%E7%AB%AF%EF%BC%88%E6%9C%AB%E7%AB%AF%EF%BC%89%E3%81%AE%E9%AA%A8%E5%BD%A2%E6%88%90%E4%B8%8D%E5%85%A8\"><\/span><strong>\u80a2\u7aef\uff08\u672b\u7aef\uff09\u306e\u9aa8\u5f62\u6210\u4e0d\u5168<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9310\u4f53\u72b6\u9aa8\u7aef\uff08Cone-shaped epiphyses\uff09<\/strong>: \u624b\u6307\u304a\u3088\u3073\u8db3\u6307\u306e\u9aa8\u7aef\uff08\u6210\u9577\u677f\u4ed8\u8fd1\uff09\u304c\u5186\u9310\u72b6\u3092\u5448\u3057\u3001\u65e9\u671f\u306b\u9589\u9396\u3057\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u6975\u7aef\u306b\u77ed\u3044\u624b\u6307\uff08\u77ed\u6307\u75c7\uff1aBrachydactyly\uff09\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u91cd\u5ea6\u306e\u77ed\u6307\u75c7<\/strong>: \u7279\u306b\u4e2d\u624b\u9aa8\u3001\u4e2d\u8db3\u9aa8\u3001\u304a\u3088\u3073\u6307\u7bc0\u9aa8\u306e\u77ed\u7e2e\u304c\u8457\u3057\u304f\u3001\u5e7c\u5c11\u671f\u304b\u3089\u300c\u624b\u8db3\u304c\u5c0f\u3055\u3044\u300d\u3053\u3068\u304c\u4e3b\u8a34\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%A1%94%E8%B2%8C%E3%81%8A%E3%82%88%E3%81%B3%E8%BA%AB%E4%BD%93%E7%9A%84%E7%89%B9%E5%BE%B4\"><\/span><strong>\u9854\u8c8c\u304a\u3088\u3073\u8eab\u4f53\u7684\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>ACRDYS1\u306e\u60a3\u8005\u306b\u306f\u3001\u5171\u901a\u3059\u308b\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e73\u5766\u306a\u9f3b\u6881\u3068\u4f4e\u3044\u9f3b\u6839<\/strong>: \u9f3b\u304c\u4f4e\u304f\u3001\u4e0a\u3092\u5411\u3044\u305f\u9f3b\u5b54\uff08Anteverted nostrils\uff09\u304c\u89b3\u5bdf\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e2d\u9854\u9762\u306e\u5f62\u6210\u4e0d\u5168<\/strong>: \u9854\u306e\u4e2d\u592e\u90e8\u304c\u5e73\u5766\u3067\u3001\u76f8\u5bfe\u7684\u306b\u4e0b\u984e\u304c\u7a81\u51fa\u3057\u3066\u898b\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f4e\u8eab\u9577<\/strong>: \u9aa8\u7aef\u306e\u65e9\u671f\u9589\u9396\u3068\u30db\u30eb\u30e2\u30f3\u62b5\u6297\u6027\u306e\u76f8\u4e57\u52b9\u679c\u306b\u3088\u308a\u3001\u591a\u304f\u306e\u75c7\u4f8b\u3067\u6700\u7d42\u8eab\u9577\u306f\u6a19\u6e96\u3092\u4e0b\u56de\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%9F%A5%E8%83%BD%E3%81%8A%E3%82%88%E3%81%B3%E7%99%BA%E9%81%94%E3%81%B8%E3%81%AE%E5%BD%B1%E9%9F%BF\"><\/span><strong>\u77e5\u80fd\u304a\u3088\u3073\u767a\u9054\u3078\u306e\u5f71\u97ff<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u591a\u304f\u306e\u75c7\u4f8b\u3067\u77e5\u80fd\u306f\u6b63\u5e38\u7bc4\u56f2\u5185\u3067\u3059\u304c\u3001\u4e00\u90e8\u306b\u306f\u8efd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/learning-disabilities-genetics-support\/\">\u5b66\u7fd2\u969c\u5bb3<\/a>\u3084\u767a\u9054\u9045\u5ef6\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306f2\u578b\uff08PDE4D\u5909\u7570\uff09\u306b\u304a\u3044\u3066\u3088\u308a\u9855\u8457\u306a\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u304c\u30011\u578b\u306b\u304a\u3044\u3066\u3082\u6ce8\u610f\u6df1\u3044\u767a\u9054\u8a55\u4fa1\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E3%83%9B%E3%83%AB%E3%83%A2%E3%83%B3%E6%8A%B5%E6%8A%97%E6%80%A7%EF%BC%88Hormone_Resistance%EF%BC%89%E3%81%AE%E5%AE%9F%E6%85%8B\"><\/span><strong>3. \u30db\u30eb\u30e2\u30f3\u62b5\u6297\u6027\uff08Hormone Resistance\uff09\u306e\u5b9f\u614b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u672c\u75c7\u306e\u30b5\u30d6\u30bf\u30a4\u30c8\u30eb\u306b\u3082\u3042\u308b\u300cwith or without Hormone Resistance\u300d\u306f\u3001\u81e8\u5e8a\u7ba1\u7406\u306b\u304a\u3044\u3066\u6975\u3081\u3066\u91cd\u8981\u306a\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%A4%9A%E7%A8%AE%E3%83%9B%E3%83%AB%E3%83%A2%E3%83%B3%E6%8A%B5%E6%8A%97%E6%80%A7%E3%81%AE%E3%83%A1%E3%82%AB%E3%83%8B%E3%82%BA%E3%83%A0\"><\/span><strong>\u591a\u7a2e\u30db\u30eb\u30e2\u30f3\u62b5\u6297\u6027\u306e\u30e1\u30ab\u30cb\u30ba\u30e0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u524d\u8ff0\u306ePKA\u30b7\u30b0\u30ca\u30eb\u906e\u65ad\u306b\u3088\u308a\u3001\u3055\u307e\u3056\u307e\u306a\u30db\u30eb\u30e2\u30f3\u304c\u53d7\u5bb9\u4f53\u306b\u7d50\u5408\u3057\u3066\u3082\u3001\u7d30\u80de\u5185\u3067\u9069\u5207\u306a\u5fdc\u7b54\u304c\u8d77\u3053\u3089\u306a\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u507d\u6027\u526f\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\uff08PHP\uff09\u69d8\u306e\u75c7\u72b6<\/strong>: \u526f\u7532\u72b6\u817a\u30db\u30eb\u30e2\u30f3\uff08PTH\uff09\u306b\u5bfe\u3059\u308b\u62b5\u6297\u6027\u304c\u6700\u3082\u983b\u7e41\u306b\u898b\u3089\u308c\u307e\u3059\u3002\u8840\u4e2d\u306ePTH\u6fc3\u5ea6\u304c\u9ad8\u5024\u3067\u3042\u308b\u306b\u3082\u304b\u304b\u308f\u3089\u305a\u3001\u30ab\u30eb\u30b7\u30a6\u30e0\u5024\u306e\u4f4e\u4e0b\u3084\u30ea\u30f3\u5024\u306e\u4e0a\u6607\u3092\u62db\u304d\u307e\u3059\u3002\u3053\u308c\u306f\u30a2\u30eb\u30d6\u30e9\u30a4\u30c8\u907a\u4f1d\u6027\u9aa8\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08AHO\uff09\u306b\u985e\u4f3c\u3057\u305f\u81e8\u5e8a\u50cf\u3092\u793a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7532\u72b6\u817a\u523a\u6fc0\u30db\u30eb\u30e2\u30f3\uff08TSH\uff09\u62b5\u6297\u6027<\/strong>: \u8efd\u5ea6\u306eTSH\u4e0a\u6607\u3092\u4f34\u3046\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u3092\u5448\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u767a\u898b\u3055\u308c\u308b\u30b1\u30fc\u30b9\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u6027\u817a\u523a\u6fc0\u30db\u30eb\u30e2\u30f3\uff08LH\/FSH\uff09\u62b5\u6297\u6027<\/strong>: \u601d\u6625\u671f\u767a\u6765\u306e\u9045\u5ef6\u3084\u3001\u6027\u817a\u6a5f\u80fd\u4e0d\u5168\u3092\u4f34\u3046\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%BA%E6%96%AD%E3%81%AE%E9%9B%A3%E3%81%97%E3%81%95%E3%81%A8%E3%80%8CResistance%E3%80%8D%E3%81%AE%E8%A7%A3%E9%87%88\"><\/span><strong>\u8a3a\u65ad\u306e\u96e3\u3057\u3055\u3068\u300cResistance\u300d\u306e\u89e3\u91c8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u300cwithout Hormone Resistance\u300d\u3068\u3055\u308c\u308b\u75c7\u4f8b\u3067\u3082\u3001\u6210\u9577\u306b\u4f34\u3044\u30db\u30eb\u30e2\u30f3\u62b5\u6297\u6027\u304c\u9855\u5728\u5316\u3059\u308b\u30b1\u30fc\u30b9\uff08Late-onset\uff09\u304c\u3042\u308b\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u5185\u5206\u6ccc\u5b66\u7684\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002\u751f\u5316\u5b66\u7684\u306a\u7570\u5e38\u304c\u306a\u304f\u3066\u3082\u3001\u753b\u50cf\u8a3a\u65ad\u7684\u306a\u9aa8\u7279\u5fb4\u304c\u5408\u81f4\u3059\u308c\u3070\u672c\u75c7\u304c\u7591\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E9%91%91%E5%88%A5%E8%A8%BA%E6%96%AD%E3%81%A8%E8%A8%BA%E6%96%AD%E3%81%AE%E3%83%97%E3%83%AD%E3%82%BB%E3%82%B9%EF%BC%9A%E9%81%BA%E4%BC%9D%E5%AD%90%E8%A8%BA%E6%96%AD%E3%81%AE%E9%87%8D%E8%A6%81%E6%80%A7\"><\/span><strong>4. \u9451\u5225\u8a3a\u65ad\u3068\u8a3a\u65ad\u306e\u30d7\u30ed\u30bb\u30b9\uff1a\u907a\u4f1d\u5b50\u8a3a\u65ad\u306e\u91cd\u8981\u6027<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u80a2\u7aef\u9aa8\u5f62\u6210\u4e0d\u5168\u75c71\u578b\u306f\u3001\u4ed6\u306e\u985e\u4f3c\u75be\u60a3\u3068\u306e\u9451\u5225\u304c\u975e\u5e38\u306b\u56f0\u96e3\u306a\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%BB%E3%81%AA%E9%91%91%E5%88%A5%E7%96%BE%E6%82%A3\"><\/span><strong>\u4e3b\u306a\u9451\u5225\u75be\u60a3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u80a2\u7aef\u9aa8\u5f62\u6210\u4e0d\u5168\u75c72\u578b\uff08ACRDYS2\uff09<\/strong>: PDE4D\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u3082\u306e\u30021\u578b\u3068\u6bd4\u8f03\u3057\u3066\u3001\u80a5\u6e80\u3001\u3088\u308a\u91cd\u5ea6\u306e\u767a\u9054\u9045\u5ef6\u3001\u304a\u3088\u3073\u77e5\u7684\u80fd\u529b\u969c\u5bb3\u3092\u4f34\u3044\u3084\u3059\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30a2\u30eb\u30d6\u30e9\u30a4\u30c8\u907a\u4f1d\u6027\u9aa8\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08AHO\uff09<\/strong>: GNAS\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u3082\u306e\u3002ACRDYS\u3068\u975e\u5e38\u306b\u3088\u304f\u4f3c\u305f\u5916\u898b\uff08\u77ed\u6307\u3001\u4f4e\u8eab\u9577\uff09\u3092\u6301\u3061\u307e\u3059\u304c\u3001ACRDYS\u306e\u65b9\u304c\u624b\u8db3\u306e\u77ed\u7e2e\u304c\u3088\u308a\u91cd\u7be4\u3067\u3042\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>TRPS\uff08\u6bdb\u9aea\u9f3b\u6307\u7bc0\u75c7\u5019\u7fa4\uff09<\/strong>: \u9f3b\u306e\u7279\u5fb4\u3084\u77ed\u6307\u75c7\u304c\u4f3c\u3066\u3044\u307e\u3059\u304c\u3001\u6bdb\u9aea\u306e\u7570\u5e38\uff08\u758e\u6bdb\uff09\u306e\u6709\u7121\u3067\u898b\u5206\u3051\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%BA%E6%96%AD%E3%81%AE%E3%82%B9%E3%83%86%E3%83%83%E3%83%97\"><\/span><strong>\u8a3a\u65ad\u306e\u30b9\u30c6\u30c3\u30d7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u81e8\u5e8a\u8a55\u4fa1<\/strong>: \u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3001\u77ed\u6307\u75c7\u3001\u4f4e\u8eab\u9577\u306e\u78ba\u8a8d\u3002<\/li>\n\n\n\n<li><strong>\u653e\u5c04\u7dda\u5b66\u7684\u8a55\u4fa1<\/strong>: \u624b\u8db3\u306e\u30ec\u30f3\u30c8\u30b2\u30f3\u64ae\u5f71\u306b\u3088\u308b\u300c\u9310\u4f53\u72b6\u9aa8\u7aef\u300d\u306e\u78ba\u8a8d\u3002<\/li>\n\n\n\n<li><strong>\u5185\u5206\u6ccc\u5b66\u7684\u691c\u67fb<\/strong>: \u8840\u4e2dPTH\u3001TSH\u3001\u30ab\u30eb\u30b7\u30a6\u30e0\u3001\u30ea\u30f3\u306e\u6e2c\u5b9a\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u691c\u67fb\uff08\u78ba\u5b9a\u8a3a\u65ad\uff09<\/strong>: \u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09\u7b49\u3092\u7528\u3044\u305fPRKAR1A\u907a\u4f1d\u5b50\u306e\u5909\u7570\u89e3\u6790\u3002<\/li>\n<\/ol>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"454\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/1909409_s-2.webp\" alt=\"\u30cf\u30fc\u30c8\" class=\"wp-image-121542\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%E6%88%A6%E7%95%A5%EF%BC%9A%E5%A4%9A%E8%A7%92%E7%9A%84%E3%81%AA%E3%82%A2%E3%83%97%E3%83%AD%E3%83%BC%E3%83%81\"><\/span><strong>5. \u6cbb\u7642\u3068\u7ba1\u7406\u6226\u7565\uff1a\u591a\u89d2\u7684\u306a\u30a2\u30d7\u30ed\u30fc\u30c1<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u73fe\u6642\u70b9\u3067\u3001PRKAR1A\u306e\u5909\u7570\u305d\u306e\u3082\u306e\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u7684\u6cbb\u7642\u6cd5\u306f\u5b58\u5728\u3057\u307e\u305b\u3093\u3002\u305d\u306e\u305f\u3081\u3001\u500b\u3005\u306e\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u306e\u5411\u4e0a\u304c\u6cbb\u7642\u306e\u67f1\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%86%85%E5%88%86%E6%B3%8C%E7%AE%A1%E7%90%86\"><\/span><strong>\u5185\u5206\u6ccc\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30ab\u30eb\u30b7\u30a6\u30e0\u30fb\u30d3\u30bf\u30df\u30f3D\u6295\u4e0e<\/strong>: PTH\u62b5\u6297\u6027\u306b\u3088\u308b\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\u304c\u8a8d\u3081\u3089\u308c\u308b\u5834\u5408\u3001\u6d3b\u6027\u578b\u30d3\u30bf\u30df\u30f3D\u88fd\u5264\u306e\u88dc\u5145\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7532\u72b6\u817a\u30db\u30eb\u30e2\u30f3\u88dc\u5145<\/strong>: TSH\u62b5\u6297\u6027\u306b\u3088\u308b\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u306b\u5bfe\u3057\u3001\u30ec\u30dc\u30c1\u30ed\u30ad\u30b7\u30f3\u306b\u3088\u308b\u6cbb\u7642\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%95%B4%E5%BD%A2%E5%A4%96%E7%A7%91%E7%9A%84%E3%83%BB%E4%BD%9C%E6%A5%AD%E7%99%82%E6%B3%95%E4%BB%8B%E5%85%A5\"><\/span><strong>\u6574\u5f62\u5916\u79d1\u7684\u30fb\u4f5c\u696d\u7642\u6cd5\u4ecb\u5165<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77ed\u6307\u75c7\u3078\u306e\u5bfe\u5fdc<\/strong>: \u624b\u6307\u306e\u6a5f\u80fd\u7684\u306a\u5236\u9650\u304c\u3042\u308b\u5834\u5408\u3001\u4f5c\u696d\u7642\u6cd5\u306b\u3088\u308b\u9069\u5fdc\u8a13\u7df4\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u810a\u67f1\u7ba1\u72ed\u7a84\u3078\u306e\u6ce8\u610f<\/strong>: \u672c\u75c7\u3067\u306f\u810a\u67f1\u7ba1\u72ed\u7a84\u306e\u30ea\u30b9\u30af\u3082\u6307\u6458\u3055\u308c\u3066\u304a\u308a\u3001\u795e\u7d4c\u5b66\u7684\u75c7\u72b6\uff08\u3057\u3073\u308c\u3001\u6b69\u884c\u969c\u5bb3\uff09\u306e\u5b9a\u671f\u7684\u306a\u30c1\u30a7\u30c3\u30af\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BF%83%E7%90%86%E3%83%BB%E7%A4%BE%E4%BC%9A%E7%9A%84%E6%94%AF%E6%8F%B4\"><\/span><strong>\u5fc3\u7406\u30fb\u793e\u4f1a\u7684\u652f\u63f4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5e0c\u5c11\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u3001\u5468\u56f2\u306e\u7406\u89e3\u3092\u5f97\u308b\u3053\u3068\u304c\u56f0\u96e3\u306a\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u901a\u3058\u3066\u3001\u5bb6\u65cf\u304c\u75be\u60a3\u306e\u6027\u8cea\u3092\u6b63\u3057\u304f\u7406\u89e3\u3057\u3001\u6b21\u5b50\u3078\u306e\u907a\u4f1d\u30ea\u30b9\u30af\uff08\u57fa\u672c\u7684\u306b\u306f\u4f4e\u3044\u3053\u3068\uff09\u3092\u628a\u63e1\u3059\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E3%81%BE%E3%81%A8%E3%82%81%EF%BC%9A%E7%B2%BE%E5%AF%86%E5%8C%BB%E7%99%82%EF%BC%88%E3%83%97%E3%83%AC%E3%82%B7%E3%82%B8%E3%83%A7%E3%83%B3%E3%83%BB%E3%83%A1%E3%83%87%E3%82%A3%E3%82%B7%E3%83%B3%EF%BC%89%E3%81%B8%E3%81%AE%E5%B1%95%E6%9C%9B\"><\/span><strong>6. \u307e\u3068\u3081\uff1a\u7cbe\u5bc6\u533b\u7642\uff08\u30d7\u30ec\u30b7\u30b8\u30e7\u30f3\u30fb\u30e1\u30c7\u30a3\u30b7\u30f3\uff09\u3078\u306e\u5c55\u671b<\/strong><span 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