{"id":122566,"date":"2026-01-14T11:09:02","date_gmt":"2026-01-14T02:09:02","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122566"},"modified":"2026-01-14T11:09:03","modified_gmt":"2026-01-14T02:09:03","slug":"capos-syndrome-atp1a3-neurology-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/capos-syndrome-atp1a3-neurology-guide\/","title":{"rendered":"CAPOS syndrome"},"content":{"rendered":"\n<p>\u533b\u5b66\u306e\u6b74\u53f2\u306b\u304a\u3044\u3066\u3001\u7279\u5b9a\u306e\u81e8\u5e8a\u75c7\u72b6\u306e\u7d44\u307f\u5408\u308f\u305b\u304c\u65b0\u3057\u3044\u75be\u60a3\u6982\u5ff5\u3068\u3057\u3066\u5b9a\u7fa9\u3055\u308c\u308b\u307e\u3067\u306b\u306f\u3001\u591a\u304f\u306e\u6b73\u6708\u3092\u8981\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002CAPOS\u75c7\u5019\u7fa4\uff08CAPOS syndrome\uff09\u3082\u305d\u306e\u4e00\u3064\u3067\u3059\u30021996\u5e74\u306b\u521d\u3081\u3066\u5831\u544a\u3055\u308c\u305f\u3053\u306e\u75be\u60a3\u306f\u3001\u5f53\u521d\u305d\u306e\u539f\u56e0\u304c\u8b0e\u306b\u5305\u307e\u308c\u3066\u3044\u307e\u3057\u305f\u304c\u3001\u8fd1\u5e74\u306e\u30b2\u30ce\u30e0\u89e3\u6790\u6280\u8853\u306e\u9032\u5c55\u306b\u3088\u308a\u3001\u7d30\u80de\u306e\u30a4\u30aa\u30f3\u30d0\u30e9\u30f3\u30b9\u3092\u53f8\u308b\u91cd\u8981\u306a\u30dd\u30f3\u30d7\u6a5f\u80fd\u306e\u7570\u5e38\u3067\u3042\u308b\u3053\u3068\u304c\u5224\u660e\u3057\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>CAPOS\u75c7\u5019\u7fa4\u306f\u3001\u5c0f\u5150\u671f\u306b\u7a81\u5982\u3068\u3057\u3066\u73fe\u308c\u308b\u795e\u7d4c\u75c7\u72b6\u3068\u3001\u305d\u306e\u5f8c\u306e\u6c38\u7d9a\u7684\u306a\u611f\u899a\u5668\u969c\u5bb3\u3092\u7279\u5fb4\u3068\u3057\u307e\u3059\u3002\u8a3a\u65ad\u306e\u96e3\u3057\u3055\u3068\u5e0c\u5c11\u6027\u3086\u3048\u306b\u3001\u9069\u5207\u306a\u60c5\u5831\u306b\u305f\u3069\u308a\u7740\u304f\u3053\u3068\u304c\u56f0\u96e3\u306a\u75be\u60a3\u3067\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u672c\u8a18\u4e8b\u3067\u306f\u3001CAPOS\u75c7\u5019\u7fa4\u306e\u75c5\u614b\u751f\u7406\u3001\u81e8\u5e8a\u7684\u7279\u5fb4\u3001\u8a3a\u65ad\u30d7\u30ed\u30bb\u30b9\u3001\u305d\u3057\u3066\u73fe\u5728\u53ef\u80fd\u306a\u7ba1\u7406\u65b9\u6cd5\u306b\u3064\u3044\u3066\u3001\u6700\u65b0\u306e\u5b66\u8853\u7684\u77e5\u898b\u306b\u57fa\u3065\u304d\u8a73\u7d30\u306b\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" 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 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/capos-syndrome-atp1a3-neurology-guide\/#1_CAPOS%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AE%E5%AE%9A%E7%BE%A9%E3%81%A8%E5%88%86%E5%AD%90%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E8%83%8C%E6%99%AF%EF%BC%9AATP1A3%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E7%89%B9%E7%95%B0%E6%80%A7\" >1. CAPOS\u75c7\u5019\u7fa4\u306e\u5b9a\u7fa9\u3068\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u80cc\u666f\uff1aATP1A3\u907a\u4f1d\u5b50\u306e\u7279\u7570\u6027<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/capos-syndrome-atp1a3-neurology-guide\/#ATP1A3%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%BD%B9%E5%89%B2%E3%81%A8%E5%A4%89%E7%95%B0%E3%81%AE%E7%89%B9%E6%AE%8A%E6%80%A7\" >ATP1A3\u907a\u4f1d\u5b50\u306e\u5f79\u5272\u3068\u5909\u7570\u306e\u7279\u6b8a\u6027<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/capos-syndrome-atp1a3-neurology-guide\/#%E7%97%85%E6%85%8B%E7%94%9F%E7%90%86%EF%BC%9A%E3%81%AA%E3%81%9C%E7%A5%9E%E7%B5%8C%E3%81%A8%E6%84%9F%E8%A6%9A%E5%99%A8%E3%81%8C%E4%BE%B5%E3%81%95%E3%82%8C%E3%82%8B%E3%81%AE%E3%81%8B\" >\u75c5\u614b\u751f\u7406\uff1a\u306a\u305c\u795e\u7d4c\u3068\u611f\u899a\u5668\u304c\u4fb5\u3055\u308c\u308b\u306e\u304b<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/capos-syndrome-atp1a3-neurology-guide\/#2_%E8%87%A8%E5%BA%8A%E7%9A%84%E7%89%B9%E5%BE%B4%EF%BC%9A%E6%80%A5%E6%80%A7%E7%9A%84%E3%82%A8%E3%83%94%E3%82%BD%E3%83%BC%E3%83%89%E3%81%A8%E6%85%A2%E6%80%A7%E7%9A%84%E9%9A%9C%E5%AE%B3\" >2. \u81e8\u5e8a\u7684\u7279\u5fb4\uff1a\u6025\u6027\u7684\u30a8\u30d4\u30bd\u30fc\u30c9\u3068\u6162\u6027\u7684\u969c\u5bb3<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/capos-syndrome-atp1a3-neurology-guide\/#%E6%80%A5%E6%80%A7%E8%84%B3%E7%97%87%E6%A7%98%E3%82%A8%E3%83%94%E3%82%BD%E3%83%BC%E3%83%89%EF%BC%88%E5%B0%8F%E8%84%B3%E5%A4%B1%E8%AA%BF%E3%81%A8%E6%84%8F%E8%AD%98%E9%9A%9C%E5%AE%B3%EF%BC%89\" >\u6025\u6027\u8133\u75c7\u69d8\u30a8\u30d4\u30bd\u30fc\u30c9\uff08\u5c0f\u8133\u5931\u8abf\u3068\u610f\u8b58\u969c\u5bb3\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/capos-syndrome-atp1a3-neurology-guide\/#%E6%85%A2%E6%80%A7%E7%9A%84%E3%81%8B%E3%81%A4%E9%80%B2%E8%A1%8C%E6%80%A7%E3%81%AE%E6%84%9F%E8%A6%9A%E5%99%A8%E9%9A%9C%E5%AE%B3\" >\u6162\u6027\u7684\u304b\u3064\u9032\u884c\u6027\u306e\u611f\u899a\u5668\u969c\u5bb3<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/capos-syndrome-atp1a3-neurology-guide\/#3_%E8%A8%BA%E6%96%AD%E3%83%97%E3%83%AD%E3%82%BB%E3%82%B9%EF%BC%9A%E8%87%A8%E5%BA%8A%E7%9A%84%E7%96%91%E3%81%84%E3%81%8B%E3%82%89%E9%81%BA%E4%BC%9D%E5%AD%90%E7%A2%BA%E5%AE%9A%E3%81%BE%E3%81%A7\" >3. \u8a3a\u65ad\u30d7\u30ed\u30bb\u30b9\uff1a\u81e8\u5e8a\u7684\u7591\u3044\u304b\u3089\u907a\u4f1d\u5b50\u78ba\u5b9a\u307e\u3067<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/capos-syndrome-atp1a3-neurology-guide\/#%E8%87%A8%E5%BA%8A%E8%A8%BA%E6%96%AD%E3%81%AE%E3%83%9D%E3%82%A4%E3%83%B3%E3%83%88\" >\u81e8\u5e8a\u8a3a\u65ad\u306e\u30dd\u30a4\u30f3\u30c8<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/capos-syndrome-atp1a3-neurology-guide\/#%E8%A3%9C%E5%8A%A9%E8%A8%BA%E6%96%AD%E6%A4%9C%E6%9F%BB\" >\u88dc\u52a9\u8a3a\u65ad\u691c\u67fb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/capos-syndrome-atp1a3-neurology-guide\/#%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB%EF%BC%88%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD%EF%BC%89\" >\u907a\u4f1d\u5b50\u691c\u67fb\uff08\u78ba\u5b9a\u8a3a\u65ad\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/capos-syndrome-atp1a3-neurology-guide\/#4_%E7%AE%A1%E7%90%86%E3%81%A8%E6%B2%BB%E7%99%82%E6%88%A6%E7%95%A5%EF%BC%9A%E3%83%81%E3%83%BC%E3%83%A0%E5%8C%BB%E7%99%82%E3%81%AB%E3%82%88%E3%82%8B%E5%8C%85%E6%8B%AC%E7%9A%84%E3%82%A2%E3%83%97%E3%83%AD%E3%83%BC%E3%83%81\" >4. \u7ba1\u7406\u3068\u6cbb\u7642\u6226\u7565\uff1a\u30c1\u30fc\u30e0\u533b\u7642\u306b\u3088\u308b\u5305\u62ec\u7684\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-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/capos-syndrome-atp1a3-neurology-guide\/#%E6%80%A5%E6%80%A7%E6%9C%9F%E3%81%AE%E7%AE%A1%E7%90%86%EF%BC%9A%E7%99%BA%E7%86%B1%E3%81%B8%E3%81%AE%E8%BF%85%E9%80%9F%E3%81%AA%E5%AF%BE%E5%BF%9C\" >\u6025\u6027\u671f\u306e\u7ba1\u7406\uff1a\u767a\u71b1\u3078\u306e\u8fc5\u901f\u306a\u5bfe\u5fdc<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/capos-syndrome-atp1a3-neurology-guide\/#%E6%84%9F%E8%A6%9A%E5%99%A8%E3%83%BB%E9%81%8B%E5%8B%95%E6%A9%9F%E8%83%BD%E3%81%AE%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\" >\u611f\u899a\u5668\u30fb\u904b\u52d5\u6a5f\u80fd\u306e\u30b5\u30dd\u30fc\u30c8<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/capos-syndrome-atp1a3-neurology-guide\/#5_%E6%9C%80%E6%96%B0%E3%81%AE%E7%A0%94%E7%A9%B6%E5%8B%95%E5%90%91%E3%81%A8%E5%B0%86%E6%9D%A5%E3%81%AE%E5%B1%95%E6%9C%9B\" >5. \u6700\u65b0\u306e\u7814\u7a76\u52d5\u5411\u3068\u5c06\u6765\u306e\u5c55\u671b<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/capos-syndrome-atp1a3-neurology-guide\/#%E5%88%86%E5%AD%90%E6%A8%99%E7%9A%84%E7%99%82%E6%B3%95%E3%81%AE%E6%8E%A2%E7%B4%A2\" >\u5206\u5b50\u6a19\u7684\u7642\u6cd5\u306e\u63a2\u7d22<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/capos-syndrome-atp1a3-neurology-guide\/#%E6%82%A3%E8%80%85%E3%83%AC%E3%82%B8%E3%82%B9%E3%83%88%E3%83%AA%E3%81%AE%E6%A7%8B%E7%AF%89\" >\u60a3\u8005\u30ec\u30b8\u30b9\u30c8\u30ea\u306e\u69cb\u7bc9<\/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\/capos-syndrome-atp1a3-neurology-guide\/#%E9%81%BA%E4%BC%9D%E5%AD%90%E6%B2%BB%E7%99%82%E3%81%B8%E3%81%AE%E9%81%93\" >\u907a\u4f1d\u5b50\u6cbb\u7642\u3078\u306e\u9053<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/capos-syndrome-atp1a3-neurology-guide\/#%E7%B5%90%E8%AB%96%EF%BC%9A%E7%90%86%E8%A7%A3%E3%81%A8%E6%97%A9%E6%9C%9F%E4%BB%8B%E5%85%A5%E3%81%8CQOL%E3%82%92%E5%B7%A6%E5%8F%B3%E3%81%99%E3%82%8B\" >\u7d50\u8ad6\uff1a\u7406\u89e3\u3068\u65e9\u671f\u4ecb\u5165\u304cQOL\u3092\u5de6\u53f3\u3059\u308b<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_CAPOS%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AE%E5%AE%9A%E7%BE%A9%E3%81%A8%E5%88%86%E5%AD%90%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E8%83%8C%E6%99%AF%EF%BC%9AATP1A3%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E7%89%B9%E7%95%B0%E6%80%A7\"><\/span><strong>1. CAPOS\u75c7\u5019\u7fa4\u306e\u5b9a\u7fa9\u3068\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u80cc\u666f\uff1aATP1A3\u907a\u4f1d\u5b50\u306e\u7279\u7570\u6027<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CAPOS\u75c7\u5019\u7fa4\u3068\u3044\u3046\u540d\u79f0\u306f\u3001\u3053\u306e\u75be\u60a3\u304c\u5448\u3059\u308b\u4e3b\u8981\u306a5\u3064\u306e\u81e8\u5e8a\u5fb4\u5019\u306e\u982d\u6587\u5b57\u3092\u3068\u3063\u305f\u30a2\u30af\u30ed\u30cb\u30e0\uff08\u7565\u79f0\uff09\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>C<\/strong>erebellar ataxia\uff08\u5c0f\u8133\u5931\u8abf\uff09<\/li>\n\n\n\n<li><strong>A<\/strong>reflexia\uff08\u8171\u53cd\u5c04\u6d88\u5931\uff09<\/li>\n\n\n\n<li><strong>P<\/strong>es cavus\uff08\u51f9\u8db3\uff09<\/li>\n\n\n\n<li><strong>O<\/strong>ptic atrophy\uff08\u8996\u795e\u7d4c\u840e\u7e2e\uff09<\/li>\n\n\n\n<li><strong>S<\/strong>ensorineural hearing loss\uff08\u611f\u97f3\u96e3\u8074\uff09<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"ATP1A3%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%BD%B9%E5%89%B2%E3%81%A8%E5%A4%89%E7%95%B0%E3%81%AE%E7%89%B9%E6%AE%8A%E6%80%A7\"><\/span><strong>ATP1A3\u907a\u4f1d\u5b50\u306e\u5f79\u5272\u3068\u5909\u7570\u306e\u7279\u6b8a\u6027<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>CAPOS\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u306f\u3001\u7b2c19\u67d3\u8272\u4f53\u306b\u4f4d\u7f6e\u3059\u308b<strong>ATP1A3\u907a\u4f1d\u5b50<\/strong>\u306e\u30d8\u30c6\u30ed\u63a5\u5408\u578b\u5909\u7570\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u795e\u7d4c\u7d30\u80de\u306b\u304a\u3044\u3066\u30ca\u30c8\u30ea\u30a6\u30e0\u30a4\u30aa\u30f3\uff08Na+\uff09\u3068\u30ab\u30ea\u30a6\u30e0\u30a4\u30aa\u30f3\uff08K+\uff09\u3092\u4ea4\u63db\u3057\u3001\u7d30\u80de\u819c\u306e\u96fb\u4f4d\u3092\u7dad\u6301\u3059\u308b\u300cNa+\/K+-ATPase \u03b13\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u300d\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9a5a\u304f\u3079\u304d\u3053\u3068\u306b\u3001CAPOS\u75c7\u5019\u7fa4\u306e\u307b\u307c\u5168\u3066\u306e\u75c7\u4f8b\u306b\u304a\u3044\u3066\u3001<strong>c.2452G&gt;A (p.Glu818Lys)<\/strong> \u3068\u3044\u3046\u5168\u304f\u540c\u4e00\u306e\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u540c\u4e00\u306e\u907a\u4f1d\u5b50\uff08ATP1A3\uff09\u306e\u7570\u306a\u308b\u90e8\u4f4d\u306e\u5909\u7570\u306f\u3001\u5225\u306e\u75be\u60a3\uff08\u4ea4\u4e92\u6027\u7247\u9ebb\u75fa\uff1aAHC\u3084\u3001\u6025\u901f\u767a\u75c7\u30b8\u30b9\u30c8\u30cb\u30a2\u30fb\u30d1\u30fc\u30ad\u30f3\u30bd\u30cb\u30ba\u30e0\uff1aRDP\uff09\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u304c\u3001CAPOS\u75c7\u5019\u7fa4\u306f\u3053\u306e\u7279\u5b9a\u306e1\u304b\u6240\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5b9a\u7fa9\u3055\u308c\u308b\u3068\u3044\u3046\u3001\u907a\u4f1d\u5b66\u7684\u306b\u6975\u3081\u3066\u30e6\u30cb\u30fc\u30af\u306a\u7279\u5fb4\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E6%85%8B%E7%94%9F%E7%90%86%EF%BC%9A%E3%81%AA%E3%81%9C%E7%A5%9E%E7%B5%8C%E3%81%A8%E6%84%9F%E8%A6%9A%E5%99%A8%E3%81%8C%E4%BE%B5%E3%81%95%E3%82%8C%E3%82%8B%E3%81%AE%E3%81%8B\"><\/span><strong>\u75c5\u614b\u751f\u7406\uff1a\u306a\u305c\u795e\u7d4c\u3068\u611f\u899a\u5668\u304c\u4fb5\u3055\u308c\u308b\u306e\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Na+\/K+-ATPase\u306f\u795e\u7d4c\u7d30\u80de\u306e\u8208\u596e\u6027\u3092\u5236\u5fa1\u3059\u308b\u305f\u3081\u306e\u751f\u547d\u7dda\u3067\u3059\u3002p.Glu818Lys\u5909\u7570\u306f\u3001\u3053\u306e\u30dd\u30f3\u30d7\u306e\u30a4\u30aa\u30f3\u7d50\u5408\u80fd\u3084\u8f38\u9001\u52b9\u7387\u3092\u4f4e\u4e0b\u3055\u305b\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u7279\u306b\u3001\u5c0f\u8133\u306e\u30d7\u30eb\u30ad\u30f3\u30a8\u7d30\u80de\u3084\u8996\u795e\u7d4c\u3001\u5185\u8033\u306e\u6709\u6bdb\u7d30\u80de\u306a\u3069\u306f\u30a8\u30cd\u30eb\u30ae\u30fc\u9700\u8981\u304c\u6975\u3081\u3066\u9ad8\u304f\u3001\u3053\u306e\u30dd\u30f3\u30d7\u306e\u6a5f\u80fd\u4e0d\u5168\u306b\u5bfe\u3057\u3066\u8106\u5f31\u3067\u3042\u308b\u305f\u3081\u3001\u7279\u7570\u7684\u306a\u81e8\u5e8a\u75c7\u72b6\u304c\u73fe\u308c\u308b\u3068\u63a8\u6e2c\u3055\u308c\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%E6%80%A5%E6%80%A7%E7%9A%84%E3%82%A8%E3%83%94%E3%82%BD%E3%83%BC%E3%83%89%E3%81%A8%E6%85%A2%E6%80%A7%E7%9A%84%E9%9A%9C%E5%AE%B3\"><\/span><strong>2. \u81e8\u5e8a\u7684\u7279\u5fb4\uff1a\u6025\u6027\u7684\u30a8\u30d4\u30bd\u30fc\u30c9\u3068\u6162\u6027\u7684\u969c\u5bb3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CAPOS\u75c7\u5019\u7fa4\u306e\u81e8\u5e8a\u7d4c\u904e\u306f\u3001\u767a\u71b1\u3092\u5951\u6a5f\u3068\u3059\u308b\u300c\u6025\u6027\u5897\u60aa\u671f\u300d\u3068\u3001\u305d\u306e\u5f8c\u6b8b\u5b58\u3059\u308b\u300c\u6162\u6027\u7684\u969c\u5bb3\u300d\u306e\u4e8c\u76f8\u6027\u3092\u793a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%80%A5%E6%80%A7%E8%84%B3%E7%97%87%E6%A7%98%E3%82%A8%E3%83%94%E3%82%BD%E3%83%BC%E3%83%89%EF%BC%88%E5%B0%8F%E8%84%B3%E5%A4%B1%E8%AA%BF%E3%81%A8%E6%84%8F%E8%AD%98%E9%9A%9C%E5%AE%B3%EF%BC%89\"><\/span><strong>\u6025\u6027\u8133\u75c7\u69d8\u30a8\u30d4\u30bd\u30fc\u30c9\uff08\u5c0f\u8133\u5931\u8abf\u3068\u610f\u8b58\u969c\u5bb3\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5178\u578b\u7684\u306a\u30b1\u30fc\u30b9\u3067\u306f\u3001\u751f\u5f8c6\u30f6\u6708\u304b\u3089\u6570\u5e74\u306e\u9593\u306b\u6700\u521d\u306e\u30a8\u30d4\u30bd\u30fc\u30c9\u304c\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u71b1\u304c\u8a98\u56e0\uff1a<\/strong> \u901a\u5e38\u306e\u98a8\u90aa\u3084\u611f\u67d3\u75c7\u306b\u3088\u308b\u767a\u71b1\u304c\u30b9\u30a4\u30c3\u30c1\u3068\u306a\u308a\u3001\u6570\u6642\u9593\u304b\u3089\u6570\u65e5\u306e\u3046\u3061\u306b\u6fc0\u3057\u3044\u5c0f\u8133\u5931\u8abf\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u69cb\u97f3\u969c\u5bb3\u304c\u73fe\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u610f\u8b58\u72b6\u614b\u306e\u5909\u5316\uff1a<\/strong> \u91cd\u75c7\u4f8b\u3067\u306f\u55dc\u7720\u3084\u660f\u7761\u306b\u81f3\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u53cd\u5fa9\u6027\uff1a<\/strong> \u5c0f\u5150\u671f\u3092\u901a\u3058\u3066\u3001\u767a\u71b1\u306e\u305f\u3073\u306b\u540c\u69d8\u306e\u30a8\u30d4\u30bd\u30fc\u30c9\u3092\u7e70\u308a\u8fd4\u3059\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u6210\u4eba\u671f\u306b\u306a\u308b\u3068\u6025\u6027\u30a8\u30d4\u30bd\u30fc\u30c9\u306e\u983b\u5ea6\u306f\u6e1b\u5c11\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%85%A2%E6%80%A7%E7%9A%84%E3%81%8B%E3%81%A4%E9%80%B2%E8%A1%8C%E6%80%A7%E3%81%AE%E6%84%9F%E8%A6%9A%E5%99%A8%E9%9A%9C%E5%AE%B3\"><\/span><strong>\u6162\u6027\u7684\u304b\u3064\u9032\u884c\u6027\u306e\u611f\u899a\u5668\u969c\u5bb3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6025\u6027\u671f\u3092\u8131\u3057\u305f\u5f8c\u3082\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u969c\u5bb3\u304c\u6c38\u7d9a\u7684\u3001\u3042\u308b\u3044\u306f\u6bb5\u968e\u7684\u306b\u9032\u884c\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u611f\u97f3\u96e3\u8074\uff1a<\/strong> \u9032\u884c\u6027\u306e\u8074\u529b\u4f4e\u4e0b\u304c\u898b\u3089\u308c\u3001\u591a\u304f\u306f\u4e21\u5074\u6027\u3067\u3059\u3002\u65e9\u671f\u304b\u3089\u306e\u88dc\u8074\u5668\u3084\u4eba\u5de5\u5185\u8033\u306e\u691c\u8a0e\u304c\u5fc5\u8981\u306b\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8996\u795e\u7d4c\u840e\u7e2e\uff1a<\/strong> \u8996\u529b\u306e\u4f4e\u4e0b\u3084\u8996\u91ce\u6b20\u640d\u304c\u751f\u3058\u307e\u3059\u3002\u773c\u5e95\u691c\u67fb\u3067\u306f\u8996\u795e\u7d4c\u4e73\u982d\u306e\u84bc\u767d\u304c\u89b3\u5bdf\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u5b66\u7684\u5fb4\u5019\uff1a<\/strong> \u6df1\u90e8\u8171\u53cd\u5c04\u306e\u6d88\u5931\uff08Areflexia\uff09\u306f\u8a3a\u65ad\u306e\u91cd\u8981\u306a\u6307\u6a19\u3067\u3059\u3002\u307e\u305f\u3001\u8db3\u306e\u5909\u5f62\uff08\u51f9\u8db3\uff1aPes cavus\uff09\u304c\u5f90\u3005\u306b\u9855\u8457\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E8%A8%BA%E6%96%AD%E3%83%97%E3%83%AD%E3%82%BB%E3%82%B9%EF%BC%9A%E8%87%A8%E5%BA%8A%E7%9A%84%E7%96%91%E3%81%84%E3%81%8B%E3%82%89%E9%81%BA%E4%BC%9D%E5%AD%90%E7%A2%BA%E5%AE%9A%E3%81%BE%E3%81%A7\"><\/span><strong>3. \u8a3a\u65ad\u30d7\u30ed\u30bb\u30b9\uff1a\u81e8\u5e8a\u7684\u7591\u3044\u304b\u3089\u907a\u4f1d\u5b50\u78ba\u5b9a\u307e\u3067<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CAPOS\u75c7\u5019\u7fa4\u306f\u975e\u5e38\u306b\u5e0c\u5c11\u3067\u3042\u308b\u305f\u3081\u3001\u6700\u521d\u306e\u30a8\u30d4\u30bd\u30fc\u30c9\u3067\u306f\u300c\u6025\u6027\u5c0f\u8133\u5931\u8abf\u75c7\u300d\u3084\u300c\u8133\u708e\u300d\u3068\u8aa4\u8a3a\u3055\u308c\u308b\u3053\u3068\u304c\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u6b63\u78ba\u306a\u8a3a\u65ad\u306b\u306f\u3001\u9577\u671f\u7684\u306a\u7d4c\u904e\u89b3\u5bdf\u3068\u5c02\u9580\u7684\u306a\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%87%A8%E5%BA%8A%E8%A8%BA%E6%96%AD%E3%81%AE%E3%83%9D%E3%82%A4%E3%83%B3%E3%83%88\"><\/span><strong>\u81e8\u5e8a\u8a3a\u65ad\u306e\u30dd\u30a4\u30f3\u30c8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4ee5\u4e0b\u306e\u5fb4\u5019\u304c\u63c3\u3063\u3066\u3044\u308b\u5834\u5408\u3001CAPOS\u75c7\u5019\u7fa4\u3092\u5f37\u304f\u7591\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u767a\u71b1\u306b\u4f34\u3046\u7a81\u767a\u7684\u306a\u5c0f\u8133\u5931\u8abf\u306e\u65e2\u5f80\u3002<\/li>\n\n\n\n<li>\u8171\u53cd\u5c04\u306e\u6d88\u5931\u3002<\/li>\n\n\n\n<li>\u539f\u56e0\u4e0d\u660e\u306e\u8996\u529b\u4f4e\u4e0b\u307e\u305f\u306f\u8996\u795e\u7d4c\u840e\u7e2e\u306e\u6240\u898b\u3002<\/li>\n\n\n\n<li>\u9032\u884c\u6027\u306e\u96e3\u8074\u3002<\/li>\n<\/ol>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A3%9C%E5%8A%A9%E8%A8%BA%E6%96%AD%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u88dc\u52a9\u8a3a\u65ad\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u79d1\u7684\u691c\u67fb\uff1a<\/strong> \u8996\u899a\u8a98\u767a\u96fb\u4f4d\uff08VEP\uff09\u3084\u773c\u5e95\u5199\u771f\u306b\u3088\u308b\u8996\u795e\u7d4c\u306e\u8a55\u4fa1\u3002<\/li>\n\n\n\n<li><strong>\u8074\u529b\u691c\u67fb\uff1a<\/strong> \u8074\u6027\u8133\u5e79\u53cd\u5fdc\uff08ABR\uff09\u306b\u3088\u308b\u96e3\u8074\u306e\u7a0b\u5ea6\u306e\u628a\u63e1\u3002<\/li>\n\n\n\n<li><strong>\u8133MRI\uff1a<\/strong> \u6025\u6027\u671f\u306b\u306f\u7279\u7570\u7684\u306a\u6240\u898b\u304c\u51fa\u306b\u304f\u3044\u3067\u3059\u304c\u3001\u7d4c\u904e\u3068\u3068\u3082\u306b\u5c0f\u8133\u840e\u7e2e\u304c\u89b3\u5bdf\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9ac4\u6db2\u691c\u67fb\uff1a<\/strong> \u4ed6\u306e\u8133\u708e\u3084\u4ee3\u8b1d\u75be\u60a3\u3092\u9664\u5916\u3059\u308b\u305f\u3081\u306b\u884c\u308f\u308c\u307e\u3059\u304c\u3001CAPOS\u3067\u306f\u901a\u5e38\u6b63\u5e38\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB%EF%BC%88%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD%EF%BC%89\"><\/span><strong>\u907a\u4f1d\u5b50\u691c\u67fb\uff08\u78ba\u5b9a\u8a3a\u65ad\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>ATP1A3\u907a\u4f1d\u5b50\u306e\u89e3\u6790<\/strong>\u304c\u78ba\u5b9a\u8a3a\u65ad\u306e\u9375\u3067\u3059\u3002\u524d\u8ff0\u3057\u305f c.2452G&gt;A \u5909\u7570\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u3053\u306e\u5909\u7570\u306f de novo\uff08\u7a81\u7136\u5909\u7570\uff09\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u5bb6\u65cf\u6027\uff08\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d\uff09\u306e\u5831\u544a\u3082\u3042\u308b\u305f\u3081\u3001\u8a3a\u65ad\u6642\u306b\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/33880960_s.webp\" alt=\"\u533b\u7642\" class=\"wp-image-122299\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E7%AE%A1%E7%90%86%E3%81%A8%E6%B2%BB%E7%99%82%E6%88%A6%E7%95%A5%EF%BC%9A%E3%83%81%E3%83%BC%E3%83%A0%E5%8C%BB%E7%99%82%E3%81%AB%E3%82%88%E3%82%8B%E5%8C%85%E6%8B%AC%E7%9A%84%E3%82%A2%E3%83%97%E3%83%AD%E3%83%BC%E3%83%81\"><\/span><strong>4. \u7ba1\u7406\u3068\u6cbb\u7642\u6226\u7565\uff1a\u30c1\u30fc\u30e0\u533b\u7642\u306b\u3088\u308b\u5305\u62ec\u7684\u30a2\u30d7\u30ed\u30fc\u30c1<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u73fe\u6642\u70b9\u3067\u306f\u3001CAPOS\u75c7\u5019\u7fa4\u306e\u6839\u672c\u7684\u306a\u539f\u56e0\u3067\u3042\u308b\u907a\u4f1d\u5b50\u5909\u7570\u3092\u4fee\u5fa9\u3059\u308b\u6cbb\u7642\u6cd5\uff08\u907a\u4f1d\u5b50\u6cbb\u7642\u306a\u3069\uff09\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u305d\u306e\u305f\u3081\u3001\u6cbb\u7642\u306e\u67f1\u306f\u300c\u6025\u6027\u671f\u306e\u4fdd\u8b77\u300d\u3068\u300c\u6162\u6027\u7684\u969c\u5bb3\u3078\u306e\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u300d\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%80%A5%E6%80%A7%E6%9C%9F%E3%81%AE%E7%AE%A1%E7%90%86%EF%BC%9A%E7%99%BA%E7%86%B1%E3%81%B8%E3%81%AE%E8%BF%85%E9%80%9F%E3%81%AA%E5%AF%BE%E5%BF%9C\"><\/span><strong>\u6025\u6027\u671f\u306e\u7ba1\u7406\uff1a\u767a\u71b1\u3078\u306e\u8fc5\u901f\u306a\u5bfe\u5fdc<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6025\u6027\u30a8\u30d4\u30bd\u30fc\u30c9\u3092\u6700\u5c0f\u9650\u306b\u6291\u3048\u308b\u3053\u3068\u304c\u3001\u795e\u7d4c\u5b66\u7684\u4e88\u5f8c\u3092\u6539\u5584\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7a4d\u6975\u7684\u306a\u89e3\u71b1\uff1a<\/strong> \u767a\u71b1\u3092\u5bdf\u77e5\u3057\u305f\u6bb5\u968e\u3067\u8fc5\u901f\u306b\u30a2\u30bb\u30c8\u30a2\u30df\u30ce\u30d5\u30a7\u30f3\u306a\u3069\u3092\u4f7f\u7528\u3057\u3001\u4f53\u6e29\u306e\u4e0a\u6607\u3092\u6291\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5168\u8eab\u7ba1\u7406\uff1a<\/strong> \u6025\u6027\u671f\u306e\u5931\u8abf\u3084\u610f\u8b58\u969c\u5bb3\u306b\u5bfe\u3057\u3066\u306f\u3001\u5165\u9662\u4e0b\u3067\u306e\u88dc\u6db2\u3084\u5b89\u9759\u7dad\u6301\u3001\u8aa4\u56a5\u9632\u6b62\u306a\u3069\u306e\u652f\u6301\u7642\u6cd5\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%84%9F%E8%A6%9A%E5%99%A8%E3%83%BB%E9%81%8B%E5%8B%95%E6%A9%9F%E8%83%BD%E3%81%AE%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\"><\/span><strong>\u611f\u899a\u5668\u30fb\u904b\u52d5\u6a5f\u80fd\u306e\u30b5\u30dd\u30fc\u30c8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8074\u899a\u30b5\u30dd\u30fc\u30c8\uff1a<\/strong> \u96e3\u8074\u306f\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u3068\u8a00\u8a9e\u767a\u9054\u306b\u76f4\u7d50\u3057\u307e\u3059\u3002\u8074\u529b\u4f4e\u4e0b\u306e\u9032\u884c\u306b\u5408\u308f\u305b\u3066\u3001\u88dc\u8074\u5668\u3084\u4eba\u5de5\u5185\u8033\u306e\u9069\u5fdc\u3092\u9069\u6642\u5224\u65ad\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8996\u899a\u30b5\u30dd\u30fc\u30c8\uff1a<\/strong> \u30ed\u30fc\u30d3\u30b8\u30e7\u30f3\u30b1\u30a2\u3092\u901a\u3058\u3066\u3001\u6b8b\u5b58\u8996\u529b\u3092\u6700\u5927\u9650\u306b\u6d3b\u7528\u3059\u308b\u305f\u3081\u306e\u74b0\u5883\u6574\u5099\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff1a<\/strong> \u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u306b\u3088\u308a\u3001\u5931\u8abf\u306b\u3088\u308b\u6b69\u884c\u56f0\u96e3\u306e\u8efd\u6e1b\u3084\u3001\u51f9\u8db3\u306b\u3088\u308b\u6b69\u884c\u30d0\u30e9\u30f3\u30b9\u306e\u60aa\u5316\u3092\u9632\u304e\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E6%9C%80%E6%96%B0%E3%81%AE%E7%A0%94%E7%A9%B6%E5%8B%95%E5%90%91%E3%81%A8%E5%B0%86%E6%9D%A5%E3%81%AE%E5%B1%95%E6%9C%9B\"><\/span><strong>5. \u6700\u65b0\u306e\u7814\u7a76\u52d5\u5411\u3068\u5c06\u6765\u306e\u5c55\u671b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CAPOS\u75c7\u5019\u7fa4\u3092\u542b\u3080ATP1A3\u95a2\u9023\u75be\u60a3\uff08ATP1A3-related disorders\uff09\u306e\u7814\u7a76\u306f\u3001\u73fe\u5728\u4e16\u754c\u4e2d\u3067\u52a0\u901f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%88%86%E5%AD%90%E6%A8%99%E7%9A%84%E7%99%82%E6%B3%95%E3%81%AE%E6%8E%A2%E7%B4%A2\"><\/span><strong>\u5206\u5b50\u6a19\u7684\u7642\u6cd5\u306e\u63a2\u7d22<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Na+\/K+-ATPase\u306e\u6a5f\u80fd\u3092\u76f4\u63a5\u7684\u307e\u305f\u306f\u9593\u63a5\u7684\u306b\u88dc\u52a9\u3059\u308b\u5316\u5408\u7269\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u304c\u9032\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u7279\u306b\u3001\u7d30\u80de\u5185\u306e\u30a4\u30aa\u30f3\u30d0\u30e9\u30f3\u30b9\u3092\u6b63\u5e38\u5316\u3055\u305b\u308b\u65b0\u305f\u306a\u85ac\u5264\u306e\u767b\u5834\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%82%A3%E8%80%85%E3%83%AC%E3%82%B8%E3%82%B9%E3%83%88%E3%83%AA%E3%81%AE%E6%A7%8B%E7%AF%89\"><\/span><strong>\u60a3\u8005\u30ec\u30b8\u30b9\u30c8\u30ea\u306e\u69cb\u7bc9<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5e0c\u5c11\u75be\u60a3\u306b\u304a\u3044\u3066\u306f\u3001\u4e00\u4eba\u3072\u3068\u308a\u306e\u75c7\u4f8b\u30c7\u30fc\u30bf\u304c\u6975\u3081\u3066\u8cb4\u91cd\u3067\u3059\u3002\u4e16\u754c\u7684\u306a\u60a3\u8005\u30ec\u30b8\u30b9\u30c8\u30ea\uff08\u767b\u9332\u5236\u5ea6\uff09\u306e\u69cb\u7bc9\u306b\u3088\u308a\u3001\u81ea\u7136\u6b74\uff08\u75be\u60a3\u304c\u3069\u306e\u3088\u3046\u306a\u7d4c\u904e\u3092\u8fbf\u308b\u304b\uff09\u306e\u8a73\u7d30\u306a\u628a\u63e1\u304c\u9032\u307f\u3001\u81e8\u5e8a\u8a66\u9a13\u306e\u8a2d\u8a08\u304c\u5bb9\u6613\u306b\u306a\u308a\u3064\u3064\u3042\u308a\u307e\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%AD%90%E6%B2%BB%E7%99%82%E3%81%B8%E3%81%AE%E9%81%93\"><\/span><strong>\u907a\u4f1d\u5b50\u6cbb\u7642\u3078\u306e\u9053<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>mRNA\u533b\u85ac\u3084\u30a2\u30c7\u30ce\u968f\u4f34\u30a6\u30a4\u30eb\u30b9\uff08AAV\uff09\u3092\u7528\u3044\u305f\u907a\u4f1d\u5b50\u88dc\u5145\u7642\u6cd5\u306e\u7814\u7a76\u306f\u3001\u4e2d\u67a2\u795e\u7d4c\u75be\u60a3\u306b\u304a\u3044\u3066\u98db\u8e8d\u7684\u306b\u9032\u6b69\u3057\u3066\u3044\u307e\u3059\u3002ATP1A3\u907a\u4f1d\u5b50\u7570\u5e38\u306b\u3088\u308b\u75c5\u614b\u3092\u6839\u672c\u304b\u3089\u662f\u6b63\u3059\u308b\u6cbb\u7642\u6cd5\u3082\u3001\u9577\u671f\u7684\u306a\u30b9\u30d1\u30f3\u3067\u306f\u73fe\u5b9f\u7684\u306a\u76ee\u6a19\u3068\u306a\u3063\u3066\u304d\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%B5%90%E8%AB%96%EF%BC%9A%E7%90%86%E8%A7%A3%E3%81%A8%E6%97%A9%E6%9C%9F%E4%BB%8B%E5%85%A5%E3%81%8CQOL%E3%82%92%E5%B7%A6%E5%8F%B3%E3%81%99%E3%82%8B\"><\/span><strong>\u7d50\u8ad6\uff1a\u7406\u89e3\u3068\u65e9\u671f\u4ecb\u5165\u304cQOL\u3092\u5de6\u53f3\u3059\u308b<\/strong><span 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