{"id":101337,"date":"2025-06-16T11:02:02","date_gmt":"2025-06-16T02:02:02","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=101337"},"modified":"2026-03-04T11:50:34","modified_gmt":"2026-03-04T02:50:34","slug":"wilson-disease-symptoms-diagnosis-treatment","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wilson-disease-symptoms-diagnosis-treatment\/","title":{"rendered":"\u30a6\u30a3\u30eb\u30bd\u30f3\u75c5\uff08Wilson\u75c5\uff09\u3010ATP7B\u3011"},"content":{"rendered":"\n<div style=\"height:20px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div style=\"border: 4px solid #e9e4f5; background-color: #fcfbff; border-radius: 12px; padding: 1.5rem; margin: 1.5rem 0 2.5rem; font-family: 'Helvetica Neue', sans-serif; line-height: 1.6; box-shadow: 0 2px 8px rgba(0, 0, 0, 0.03);\">\n  <div id=\"ez-toc-container\" class=\"ez-toc-v2_0_83 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wilson-disease-symptoms-diagnosis-treatment\/#%E6%96%B0%E3%81%97%E3%81%84%E6%A4%9C%E6%9F%BB%E6%B3%95\" >\u65b0\u3057\u3044\u691c\u67fb\u6cd5<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wilson-disease-symptoms-diagnosis-treatment\/#%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%A8%E7%AE%A1%E7%90%86_Treatment_Management\" >\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wilson-disease-symptoms-diagnosis-treatment\/#%E8%96%AC%E7%89%A9%E7%99%82%E6%B3%95\" >\u85ac\u7269\u7642\u6cd5<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wilson-disease-symptoms-diagnosis-treatment\/#%E7%A5%9E%E7%B5%8C%E3%83%BB%E7%B2%BE%E7%A5%9E%E7%97%87%E7%8A%B6%E3%81%B8%E3%81%AE%E5%AF%BE%E5%87%A6\" >\u795e\u7d4c\u30fb\u7cbe\u795e\u75c7\u72b6\u3078\u306e\u5bfe\u51e6<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wilson-disease-symptoms-diagnosis-treatment\/#%E6%89%8B%E8%A1%93%E7%9A%84%E6%B2%BB%E7%99%82\" >\u624b\u8853\u7684\u6cbb\u7642<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wilson-disease-symptoms-diagnosis-treatment\/#%E8%82%9D%E7%A7%BB%E6%A4%8D\" >\u809d\u79fb\u690d<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wilson-disease-symptoms-diagnosis-treatment\/#%E9%A3%9F%E4%BA%8B%E3%81%A8%E7%94%9F%E6%B4%BB\" >\u98df\u4e8b\u3068\u751f\u6d3b<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wilson-disease-symptoms-diagnosis-treatment\/#%E4%BA%88%E5%BE%8C_Prognosis\" >\u4e88\u5f8c | Prognosis<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-28\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wilson-disease-symptoms-diagnosis-treatment\/#%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E8%A8%80%E8%91%89%E3%81%AE%E8%AA%AC%E6%98%8E%EF%BD%9CHelpful_Terms\" >\u3084\u3055\u3057\u3044\u8a00\u8449\u306e\u8aac\u660e\uff5cHelpful Terms<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-29\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wilson-disease-symptoms-diagnosis-treatment\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\" >\u5f15\u7528\u6587\u732e\uff5cReferences<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-30\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wilson-disease-symptoms-diagnosis-treatment\/#%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89%EF%BD%9CKeywords\" >\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/a><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top: 0; margin-bottom: 0.75rem; font-size: 1.25rem; color: #7e6cae; text-align: left; border: none; border-bottom: none; padding-bottom: 0; display: block;\"><span class=\"ez-toc-section\" id=\"%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E3%81%BE%E3%81%A8%E3%82%81\"><\/span>\u3084\u3055\u3057\u3044\u307e\u3068\u3081<span class=\"ez-toc-section-end\"><\/span><\/h2>\n  <p style=\"margin: 0; font-size: 1rem; color: #444;\">\n    <p>\n\u30a6\u30a3\u30eb\u30bd\u30f3\u75c5\u306f\u3001\u751f\u307e\u308c\u3064\u304d\u4f53\u306e\u4e2d\u3067\u9285\uff08\u3069\u3046\uff09\u3068\u3044\u3046\u91d1\u5c5e\u3092\u3046\u307e\u304f\u51e6\u7406\u3067\u304d\u306a\u3044\u3001\u307e\u308c\u306a\u907a\u4f1d\u6027\u306e\u75c5\u6c17\u3067\u3059\u3002<br>\n\u3053\u306e\u75c5\u6c17\u306b\u306a\u308b\u3068\u3001\u809d\u81d3\u3084\u8133\u306a\u3069\u306b\u9285\u304c\u305f\u307e\u308a\u3001\u3055\u307e\u3056\u307e\u306a\u75c7\u72b6\u304c\u51fa\u3066\u304f\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<br>\n\u65e9\u304f\u898b\u3064\u3051\u3066\u6cbb\u7642\u3092\u7d9a\u3051\u308c\u3070\u3001\u5065\u5eb7\u306b\u8fd1\u3044\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<br>\n\u3053\u306e\u30da\u30fc\u30b8\u3067\u306f\u3001\u30a6\u30a3\u30eb\u30bd\u30f3\u75c5\u306e\u539f\u56e0\u30fb\u75c7\u72b6\u30fb\u691c\u67fb\u30fb\u6cbb\u7642\u65b9\u6cd5\u306b\u3064\u3044\u3066\u3001\u308f\u304b\u308a\u3084\u3059\u304f\u3054\u8aac\u660e\u3057\u3066\u3044\u307e\u3059\u3002<br>\n\u3054\u672c\u4eba\u3084\u3054\u5bb6\u65cf\u306e\u8a3a\u65ad\u3084\u6cbb\u7642\u306e\u53c2\u8003\u306b\u306a\u308c\u3070\u5e78\u3044\u3067\u3059\u3002\n<\/p>\n  <\/p>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%90%E9%A0%98%E5%9F%9F_Implicated_Genomic_Region\"><\/span>\u907a\u4f1d\u5b50\u9818\u57df | Implicated Genomic Region<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><strong>ATP7B<\/strong><\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"26\" src=\"\/nipt\/wp-content\/uploads\/2025\/06\/ATP7B-hgtIdeo_genome_asia_1f402_f6af10-1024x26.png\" alt=\"ATP7B\" class=\"wp-image-101377\"\/><\/figure><\/div>\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30a6\u30a3\u30eb\u30bd\u30f3\u75c5\u306f\u3001ATP7B\uff08ATPase copper transporting beta\uff09\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u7b2c13\u67d3\u8272\u4f53\u306eq14.3\u9818\u57df\u306b\u4f4d\u7f6e\u3057\u3066\u304a\u308a\u3001\u4e3b\u306b\u809d\u81d3\u3067\u50cd\u304f\u9285\u8f38\u9001ATP\u30a2\u30fc\u30bc\uff08Copper-transporting ATPase\uff09\u3068\u3044\u3046\u9175\u7d20\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9175\u7d20\u306f\u3001\u79c1\u305f\u3061\u306e\u4f53\u5185\u3067\u5fc5\u8981\u306a\u5fae\u91cf\u91d1\u5c5e\u3067\u3042\u308b\u9285\uff08copper\uff09\u3092\u9069\u5207\u306b\u5229\u7528\u3057\u3001\u4f59\u5206\u306a\u9285\u3092\u80c6\u6c41\uff08\u305f\u3093\u3058\u3085\u3046\u3001\u6d88\u5316\u6db2\u306e\u4e00\u7a2e\uff09\u3092\u901a\u3058\u3066\u4f53\u5916\u306b\u6392\u51fa\u3059\u308b\u3068\u3044\u3046\u91cd\u8981\u306a\u50cd\u304d\u3092\u3057\u3066\u3044\u307e\u3059\u3002ATP7B\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u6b21\u306e\u3088\u3046\u306a\u69cb\u9020\u3092\u6301\u3063\u3066\u3044\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>8\u3064\u306e\u819c\u8cab\u901a\u9818\u57df\uff08transmembrane domain\uff09\u3067\u9285\u3092\u7d30\u80de\u819c\u306e\u5185\u5916\u306b\u8f38\u9001<\/li>\n\n\n\n<li>\u7d30\u80de\u5185\u3067\u50cd\u304f3\u3064\u306e\u30c9\u30e1\u30a4\u30f3\uff08ATP\u3092\u7d50\u5408\u3057\u3001\u5206\u89e3\u3057\u3001\u9175\u7d20\u306e\u5f62\u3092\u5909\u3048\u308b\uff09<\/li>\n\n\n\n<li>\u9285\u3092\u53d7\u3051\u53d6\u308b6\u3064\u306e\u91d1\u5c5e\u7d50\u5408\u30c9\u30e1\u30a4\u30f3\uff08metal-binding domain\uff1aMBD\uff09<\/li>\n\n\n\n<li>\u50cd\u304d\u3092\u8abf\u7bc0\u3059\u308bC\u672b\u7aef\u9818\u57df<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u306e\u907a\u4f1d\u5b50\u306b\u75c5\u7684\u5909\u7570\uff08pathogenic variant\uff09\u304c\u8d77\u3053\u308b\u3068\u3001\u9285\u306e\u6392\u51fa\u6a5f\u80fd\u304c\u640d\u306a\u308f\u308c\u3001\u4f53\u5185\u306b\u6bd2\u6027\u30ec\u30d9\u30eb\u3067\u84c4\u7a4d\u3057\u3066\u3057\u307e\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E6%82%A3%E5%90%8D_Disorder\"><\/span>\u75be\u60a3\u540d | Disorder<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u30a6\u30a3\u30eb\u30bd\u30f3\u75c5\uff08Wilson disease, WD\uff09\u307e\u305f\u306f\u809d\u30ec\u30f3\u30ba\u6838\u5909\u6027\u75c7\uff08Hepatolenticular degeneration\uff09\u3068\u3082\u547c\u3070\u308c\u307e\u3059\u3002\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\uff08autosomal recessive inheritance\uff09\u3068\u3044\u3046\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u3001\u4e21\u89aa\u306e\u305d\u308c\u305e\u308c\u304b\u3089\u75c5\u6c17\u306e\u539f\u56e0\u3068\u306a\u308b\u5909\u7570\u30921\u3064\u305a\u3064\u53d7\u3051\u7d99\u3050\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30a6\u30a3\u30eb\u30bd\u30f3\u75c5\u306f\u3001\u4f53\u5185\u306e\u9285\u4ee3\u8b1d\uff08copper metabolism\uff09\u306b\u7570\u5e38\u304c\u8d77\u3053\u308b\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u75c7\uff08inherited metabolic disorder\uff09\u306e\u4e00\u7a2e\u3067\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">CEP290\u95a2\u9023Leber\u5148\u5929\u9ed2\u5185\u969c\uff08LCA10\uff09\u3010CEP290\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">Leber\u5148\u5929\u9ed2\u5185\u969c10\u578b\uff08LCA10\uff09\u306f\u3001CEP290\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u751f\u307e\u308c\u3064\u304d\u8996\u529b\u304c\u5f31\u304f\u306a\u308b\u75c5\u6c17\u3067\u3059\u3002\u75c7\u72b6\u3001\u539f\u56e0\u3001\u8a3a\u65ad\u3001\u6cbb\u7642\u306e\u6700\u65b0\u60c5...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A6%82%E8%A6%81_Overview\"><\/span>\u6982\u8981 | Overview<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30a6\u30a3\u30eb\u30bd\u30f3\u75c5\u306f\u3001\u751f\u307e\u308c\u3064\u304d\u4f53\u5185\u3067\u9285\u3092\u6392\u51fa\u3059\u308b\u4ed5\u7d44\u307f\u304c\u3046\u307e\u304f\u50cd\u304b\u306a\u3044\u75c5\u6c17\u3067\u3059\u3002\u79c1\u305f\u3061\u306e\u4f53\u306f\u9285\u3092\u9175\u7d20\u306a\u3069\u306b\u5229\u7528\u3057\u3066\u3044\u307e\u3059\u304c\u3001\u4f59\u3063\u305f\u9285\u306f\u6709\u5bb3\u306b\u306a\u308b\u305f\u3081\u3001\u901a\u5e38\u306f\u809d\u81d3\u304b\u3089\u80c6\u6c41\u3092\u901a\u3058\u3066\u6392\u51fa\u3055\u308c\u307e\u3059\u3002\u30a6\u30a3\u30eb\u30bd\u30f3\u75c5\u3067\u306f\u3053\u306e\u6392\u51fa\u304c\u3067\u304d\u305a\u3001\u809d\u81d3\u3084\u8133\u3001\u76ee\uff08\u89d2\u819c\uff09\u3001\u814e\u81d3\u306a\u3069\u306b\u9285\u304c\u84c4\u7a4d\u3057\u3066\u3057\u307e\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u4e73\u5e7c\u5150\u671f\u306b\u306f\u75c7\u72b6\u304c\u51fa\u306a\u3044\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u30015\u6b73\u301c35\u6b73\u9803\u306b\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u305d\u308c\u4ee5\u964d\u3082\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u809d\u81d3\u969c\u5bb3\uff08\u809d\u708e\u3084\u809d\u786c\u5909\uff09\u3068\u3057\u3066\u73fe\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u795e\u7d4c\u75c7\u72b6\u3084\u7cbe\u795e\u75c7\u72b6\u304c\u6700\u521d\u306b\u51fa\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u89d2\u819c\uff08\u9ed2\u76ee\uff09\u306e\u5468\u56f2\u306b\u73fe\u308c\u308b\u300c\u30ab\u30a4\u30b6\u30fc\u30fb\u30d5\u30e9\u30a4\u30b7\u30e3\u30fc\u8f2a\uff08Kayser\u2013Fleischer ring\uff09\u300d\u306f\u3001\u30a6\u30a3\u30eb\u30bd\u30f3\u75c5\u306b\u7279\u5fb4\u7684\u306a\u30b5\u30a4\u30f3\u3067\u3001\u8a3a\u65ad\u306e\u624b\u304c\u304b\u308a\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u65e9\u671f\u306b\u8a3a\u65ad\u3057\u3001\u751f\u6daf\u306b\u308f\u305f\u308b\u9069\u5207\u306a\u6cbb\u7642\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u5065\u5eb7\u7684\u306a\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%AB%E5%AD%A6_Epidemiology\"><\/span>\u75ab\u5b66 | Epidemiology<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30a6\u30a3\u30eb\u30bd\u30f3\u75c5\u306f\u307e\u308c\u306a\u75c5\u6c17\uff08\u5e0c\u5c11\u75be\u60a3\uff09\u3067\u3059\u304c\u3001\u6700\u8fd1\u306e\u7814\u7a76\u3067\u306f\u4ee5\u524d\u3088\u308a\u3082\u591a\u304f\u5b58\u5728\u3059\u308b\u53ef\u80fd\u6027\u304c\u793a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e16\u754c\u7684\u306a\u6709\u75c5\u7387\u306f\u304a\u3088\u305d3\u4e07\u4eba\u301c5\u4e07\u4eba\u306b1\u4eba<\/li>\n\n\n\n<li>\u4e00\u90e8\u306e\u5730\u57df\uff08\u65e5\u672c\u3001\u4e2d\u56fd\u3001\u30b5\u30eb\u30c7\u30fc\u30cb\u30e3\u5cf6\u306a\u3069\uff09\u3067\u306f1\u4e07\u4eba\u306b1\u4eba\u3068\u9ad8\u983b\u5ea6<\/li>\n\n\n\n<li>\u6700\u65b0\u306e\u907a\u4f1d\u5b50\u89e3\u6790\u306b\u3088\u308b\u63a8\u5b9a\u3067\u306f\u3001\u5b9f\u969b\u306e\u767a\u75c7\u6570\u3088\u308a\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u304c\u591a\u304f\u3001\u8a3a\u65ad\u3055\u308c\u3066\u3044\u306a\u3044\u30b1\u30fc\u30b9\u304c\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E5%9B%A0_Etiology\"><\/span>\u75c5\u56e0 | Etiology<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u539f\u56e0\u306f\u3001ATP7B\u907a\u4f1d\u5b50\u306e\u4e21\u65b9\u306b\u5909\u7570\u304c\u3042\u308b\u3053\u3068\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\uff1a<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u30bb\u30ed\u30ed\u30d7\u30e9\u30b9\u30df\u30f3\uff08ceruloplasmin\uff09\u3068\u3044\u3046\u8840\u6db2\u4e2d\u306e\u9285\u3092\u904b\u3076\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u3046\u307e\u304f\u4f5c\u3089\u308c\u306a\u3044<\/li>\n\n\n\n<li>\u9285\u304c\u80c6\u6c41\u4e2d\u306b\u6392\u51fa\u3055\u308c\u305a\u306b\u809d\u81d3\u306b\u305f\u307e\u308a<\/li>\n\n\n\n<li>\u305d\u306e\u7d50\u679c\u3001\u809d\u81d3\u304b\u3089\u5168\u8eab\u306b\u6bd2\u6027\u3092\u3082\u3064\u300c\u904a\u96e2\u9285\uff08non-ceruloplasmin-bound copper\uff09\u300d\u304c\u653e\u51fa\u3055\u308c\u3001\u8133\u3084\u814e\u81d3\u3001\u89d2\u819c\u306a\u3069\u306b\u969c\u5bb3\u306b\u306a\u308b<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%87%E7%8A%B6_Symptoms\"><\/span>\u75c7\u72b6 | Symptoms<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30a6\u30a3\u30eb\u30bd\u30f3\u75c5\u306e\u75c7\u72b6\u306f\u591a\u5c90\u306b\u308f\u305f\u308a\u3001\u3069\u306e\u81d3\u5668\u306b\u9285\u304c\u305f\u307e\u308b\u304b\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%82%9D%E8%87%93%EF%BC%88%E6%9C%80%E5%88%9D%E3%81%AB%E7%97%87%E7%8A%B6%E3%81%8C%E5%87%BA%E3%82%84%E3%81%99%E3%81%84%EF%BC%89\"><\/span>\u809d\u81d3\uff08\u6700\u521d\u306b\u75c7\u72b6\u304c\u51fa\u3084\u3059\u3044\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u809d\u708e\u3001\u809d\u786c\u5909\u3001\u809d\u4e0d\u5168<\/li>\n\n\n\n<li>\u8179\u6c34\u3084\u9ec4\u75b8\uff08\u76ae\u819a\u3084\u767d\u76ee\u304c\u9ec4\u8272\u304f\u306a\u308b\uff09<\/li>\n\n\n\n<li>\u6025\u6027\u809d\u4e0d\u5168\u306b\u3068\u3082\u306a\u3046\u6eb6\u8840\u6027\u8ca7\u8840\uff08\u8840\u6db2\u304c\u58ca\u308c\u308b\uff09<\/li>\n\n\n\n<li>\u3054\u304f\u307e\u308c\u306b\u809d\u304c\u3093<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A5%9E%E7%B5%8C%E7%B3%BB\"><\/span>\u795e\u7d4c\u7cfb<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9707\u3048\uff08\u632f\u6226\uff09\u3084\u7b4b\u8089\u306e\u3053\u308f\u3070\u308a<\/li>\n\n\n\n<li>\u767a\u8a71\u969c\u5bb3\uff08\u8a00\u8449\u304c\u51fa\u306b\u304f\u3044\uff09\u3084\u56a5\u4e0b\u969c\u5bb3\uff08\u98f2\u307f\u8fbc\u307f\u3065\u3089\u3044\uff09<\/li>\n\n\n\n<li>\u30b8\u30b9\u30c8\u30cb\u30a2\uff08\u7b4b\u8089\u304c\u52dd\u624b\u306b\u52d5\u304f\u3001\u5909\u306a\u59ff\u52e2\u306b\u306a\u308b\uff09<\/li>\n\n\n\n<li>\u6b69\u304d\u306b\u304f\u3055\u3001\u304e\u3053\u3061\u306a\u3044\u52d5\u304d\uff08\u904b\u52d5\u5931\u8abf\uff09<\/li>\n\n\n\n<li>\u30d1\u30fc\u30ad\u30f3\u30bd\u30f3\u69d8\u75c7\u72b6\uff08\u52d5\u4f5c\u304c\u9045\u304f\u306a\u308b\u3001\u8868\u60c5\u304c\u4e4f\u3057\u304f\u306a\u308b\uff09<\/li>\n\n\n\n<li>\u767a\u4f5c\u3084\u8a8d\u77e5\u6a5f\u80fd\u4f4e\u4e0b\uff08\u8a18\u61b6\u3084\u96c6\u4e2d\u306e\u969c\u5bb3\uff09<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%B2%BE%E7%A5%9E%E7%97%87%E7%8A%B6\"><\/span>\u7cbe\u795e\u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6c17\u5206\u306e\u6ce2\u304c\u6fc0\u3057\u3044\u3001\u6012\u308a\u3063\u307d\u304f\u306a\u308b<\/li>\n\n\n\n<li>\u3046\u3064\u75c7\u72b6\u3084\u4e0d\u5b89\u3001\u4e0d\u7720<\/li>\n\n\n\n<li>\u601d\u6625\u671f\u3084\u9752\u5e74\u671f\u306b\u7cbe\u795e\u79d1\u7684\u306a\u554f\u984c\u3068\u3057\u3066\u521d\u3081\u3066\u898b\u3064\u304b\u308b\u3053\u3068<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%9C%BC%E3%81%AE%E6%89%80%E8%A6%8B\"><\/span>\u773c\u306e\u6240\u898b<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30ab\u30a4\u30b6\u30fc\u30fb\u30d5\u30e9\u30a4\u30b7\u30e3\u30fc\u8f2a\uff08Kayser\u2013Fleischer ring\uff09\uff1a\u89d2\u819c\u306e\u5468\u308a\u306b\u3067\u304d\u308b\u7dd1\u301c\u8336\u8272\u306e\u8f2a<\/li>\n\n\n\n<li>\u30b5\u30f3\u30d5\u30e9\u30ef\u30fc\u767d\u5185\u969c\uff1a\u5149\u306e\u53cd\u5c04\u3067\u3072\u307e\u308f\u308a\u306e\u3088\u3046\u306b\u898b\u3048\u308b\u30ec\u30f3\u30ba\u306e\u6df7\u6fc1\uff08\u307e\u308c\uff09<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%85%8E%E8%87%93%E3%82%84%E5%86%85%E5%88%86%E6%B3%8C%E7%B3%BB\"><\/span>\u814e\u81d3\u3084\u5185\u5206\u6ccc\u7cfb<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30bf\u30f3\u30d1\u30af\u5c3f\u3001\u30a2\u30df\u30ce\u9178\u5c3f\u3001\u7cd6\u5c3f\u306a\u3069\uff08\u814e\u81d3\u306e\u6a5f\u80fd\u4f4e\u4e0b\uff09<\/li>\n\n\n\n<li>\u526f\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\uff08\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\u306b\u3064\u306a\u304c\u308b\uff09<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%AA%A8%E3%82%84%E7%AD%8B%E8%82%89%E3%80%81%E8%A1%80%E6%B6%B2\"><\/span>\u9aa8\u3084\u7b4b\u8089\u3001\u8840\u6db2<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9aa8\u7c97\u3057\u3087\u3046\u75c7\u3001\u95a2\u7bc0\u75db<\/li>\n\n\n\n<li>\u81ea\u5df1\u514d\u75ab\u6027\u3067\u306a\u3044\uff08\u30af\u30fc\u30e0\u30b9\u9670\u6027\uff09\u306e\u6eb6\u8840\u6027\u8ca7\u8840<\/li>\n\n\n\n<li>\u8840\u5c0f\u677f\u3084\u767d\u8840\u7403\u306e\u6e1b\u5c11\uff08\u85ac\u306e\u526f\u4f5c\u7528\u3084\u813e\u816b\u306b\u3088\u308b\uff09<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A4%9C%E6%9F%BB%E3%83%BB%E8%A8%BA%E6%96%AD_Testing_Diagnosis\"><\/span>\u691c\u67fb\u30fb\u8a3a\u65ad | Testing &amp; Diagnosis<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30a6\u30a3\u30eb\u30bd\u30f3\u75c5\u306e\u8a3a\u65ad\u306f\u3001\u8907\u6570\u306e\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A1%80%E6%B6%B2%E6%A4%9C%E6%9F%BB\"><\/span>\u8840\u6db2\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30bb\u30ed\u30ed\u30d7\u30e9\u30b9\u30df\u30f3\uff08ceruloplasmin\uff09\uff1a20 mg\/dL\u672a\u6e80\u304c\u76ee\u5b89\u3067\u3059\u304c\u3001\u6b63\u5e38\u3067\u3082\u75c5\u6c17\u306e\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li>\u8840\u6e05\u4e2d\u306e\u9285\uff1a\u7dcf\u9285\u306f\u5c11\u306a\u304f\u898b\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u300c\u904a\u96e2\u9285\uff08free copper\uff09\u300d\u306e\u8a08\u7b97\u304c\u91cd\u8981<\/li>\n\n\n\n<li>\u8a08\u7b97\u5f0f\uff1aFree Cu = \u7dcf\u9285 \u2013 (3.15 \u00d7 \u30bb\u30ed\u30ed\u30d7\u30e9\u30b9\u30df\u30f3)<\/li>\n\n\n\n<li>\u904a\u96e2\u9285 &gt;25 \u00b5g\/dL \u306f\u6d3b\u52d5\u6027\u75be\u60a3\u3092\u793a\u5506<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%B0%BF%E6%A4%9C%E6%9F%BB\"><\/span>\u5c3f\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>24\u6642\u9593\u5c3f\u4e2d\u9285\u6392\u6cc4\u91cf\uff1a100 \u00b5g\/\u65e5\u4ee5\u4e0a\u306f\u8a3a\u65ad\u7684<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB\"><\/span>\u753b\u50cf\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>MRI\uff08\u78c1\u6c17\u5171\u9cf4\u753b\u50cf\uff09\uff1a\u8133\u306e\u5927\u8133\u57fa\u5e95\u6838\u3084\u8996\u5e8a\u306a\u3069\u306bT2\u4fe1\u53f7\u7570\u5e38\uff08\u4f8b\uff1a\u300c\u30b8\u30e3\u30a4\u30a2\u30f3\u30c8\u30d1\u30f3\u30c0\u30b5\u30a4\u30f3\u300d\uff09<\/li>\n\n\n\n<li>\u30b9\u30ea\u30c3\u30c8\u30e9\u30f3\u30d7\u691c\u67fb\uff1a\u30ab\u30a4\u30b6\u30fc\u30fb\u30d5\u30e9\u30a4\u30b7\u30e3\u30fc\u8f2a\u306e\u78ba\u8a8d<\/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\"><\/span>\u907a\u4f1d\u5b50\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>ATP7B\u306e\u5168\u30a8\u30af\u30bd\u30f3\u89e3\u6790\uff08NGS\uff09\u304c\u63a8\u5968\u3055\u308c\u307e\u3059<\/li>\n\n\n\n<li>\u5bb6\u65cf\u5185\u8a3a\u65ad\u3084\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u3082\u6709\u7528<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%82%9D%E7%94%9F%E6%A4%9C%EF%BC%88%E5%BF%85%E8%A6%81%E3%81%AA%E5%A0%B4%E5%90%88%EF%BC%89\"><\/span>\u809d\u751f\u691c\uff08\u5fc5\u8981\u306a\u5834\u5408\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u809d\u7d44\u7e54\u306e\u9285\u542b\u6709\u91cf &gt;250 \u00b5g\/g\uff08\u4e7e\u71e5\u91cd\u91cf\uff09\u3067\u78ba\u5b9a\u7684<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%96%B0%E3%81%97%E3%81%84%E6%A4%9C%E6%9F%BB%E6%B3%95\"><\/span>\u65b0\u3057\u3044\u691c\u67fb\u6cd5<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>ATP7B\u30da\u30d7\u30c1\u30c9\u306e\u8cea\u91cf\u5206\u6790\u6e2c\u5b9a\uff08immuno-SRM\uff09\uff1a\u8840\u6db2\u30b9\u30dd\u30c3\u30c8\u304b\u3089\u9ad8\u7cbe\u5ea6\u3067ATP7B\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u6e2c\u5b9a<\/li>\n\n\n\n<li>\u6b63\u5e38\u306b\u898b\u3048\u308b\u4eba\u3067\u3082ATP7B\u4e0d\u8db3\u3092\u691c\u51fa\u3067\u304d\u3001\u5c06\u6765\u7684\u306b\u306f\u6a19\u6e96\u8a3a\u65ad\u3068\u306a\u308b\u53ef\u80fd\u6027\u3042\u308a<\/li>\n<\/ul>\n\n\n\n    <a href=\"\/nipt\/lgmdr1-calpainopathy-overview\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u56db\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc1\u578b\uff08LGMDR1\uff09\uff3b\u30ab\u30ea\u30d1\u30ce\u30d1\u30c1\u30fc\u3001\u65e7\u540d\uff1aLGMD2A\uff3d\u3010CAPN3\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u56db\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u30bf\u30a4\u30d7R1\uff08LGMDR1\uff0f\u30ab\u30ea\u30d1\u30ce\u30d1\u30c1\u30fc\uff09\u306b\u3064\u3044\u3066\u3001\u907a\u4f1d\u3084\u75c7\u72b6\u3001\u691c\u67fb\u3001\u6cbb\u7642\u3092\u3084\u3055\u3057\u3044\u8a00\u8449\u3067\u3066\u3044\u306d\u3044\u306b\u89e3\u8aac\u3057\u307e\u3059\u3002\uff5c\u30d2...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%A8%E7%AE%A1%E7%90%86_Treatment_Management\"><\/span>\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6cbb\u7642\u306e\u76ee\u6a19\u306f\u4f59\u5206\u306a\u9285\u3092\u53d6\u308a\u9664\u304d\u3001\u305d\u308c\u4ee5\u4e0a\u305f\u307e\u3089\u306a\u3044\u3088\u3046\u306b\u3059\u308b\u3053\u3068\u3067\u3059\u3002\u751f\u6daf\u306b\u308f\u305f\u308b\u7d99\u7d9a\u7684\u306a\u6cbb\u7642\u3068\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%96%AC%E7%89%A9%E7%99%82%E6%B3%95\"><\/span>\u85ac\u7269\u7642\u6cd5<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<figure class=\"wp-block-table\"><table><tbody><tr><td>\u85ac\u5264\u540d<\/td><td>\u4f5c\u7528<\/td><td>\u4e3b\u306a\u4f7f\u7528\u5bfe\u8c61<\/td><td>\u6ce8\u610f\u70b9<\/td><\/tr><tr><td>D-\u30da\u30cb\u30b7\u30e9\u30df\u30f3\uff08D-penicillamine\uff09<\/td><td>\u9285\u3092\u30ad\u30ec\u30fc\u30c8\u3057\u3066\u5c3f\u304b\u3089\u6392\u6cc4<\/td><td>\u75c7\u72b6\u304c\u3042\u308b\u521d\u671f<\/td><td>\u30d3\u30bf\u30df\u30f3B6\u4f75\u7528\u3001\u958b\u59cb\u306f\u614e\u91cd\u306b\u3001\u795e\u7d4c\u75c7\u72b6\u60aa\u5316\u306e\u30ea\u30b9\u30af\u3042\u308a<\/td><\/tr><tr><td>\u30c8\u30ea\u30a8\u30f3\u30c1\u30f3\uff08Trientine\uff09<\/td><td>\u540c\u69d8\u306b\u9285\u3092\u6392\u6cc4<\/td><td>\u30da\u30cb\u30b7\u30e9\u30df\u30f3\u304c\u4f7f\u3048\u306a\u3044\u5834\u5408<\/td><td>\u526f\u4f5c\u7528\u304c\u5c11\u306a\u3044\u3001\u51b7\u8535\u4fdd\u5b58<\/td><\/tr><tr><td>\u4e9c\u925b\u88fd\u5264\uff08Zinc salts\uff09<\/td><td>\u8178\u304b\u3089\u306e\u9285\u5438\u53ce\u3092\u6291\u5236<\/td><td>\u7121\u75c7\u72b6\u307e\u305f\u306f\u7dad\u6301\u671f<\/td><td>\u98df\u5f8c\u3059\u3050\u907f\u3051\u308b\u3001\u30ad\u30ec\u30fc\u30c8\u5264\u3068\u4f75\u7528\u4e0d\u53ef<\/td><\/tr><tr><td>\u30c6\u30c8\u30e9\u30c1\u30aa\u30e2\u30ea\u30d6\u30c7\u30fc\u30c8\uff08Tetrathiomolybdate\uff09<\/td><td>\u9285\u3068\u30a2\u30eb\u30d6\u30df\u30f3\u3092\u5b89\u5b9a\u5316<\/td><td>\u795e\u7d4c\u75c7\u72b6\u3092\u9632\u3050<\/td><td>\u81e8\u5e8a\u8a66\u9a13\u4e2d\u3001FDA\u672a\u627f\u8a8d<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A5%9E%E7%B5%8C%E3%83%BB%E7%B2%BE%E7%A5%9E%E7%97%87%E7%8A%B6%E3%81%B8%E3%81%AE%E5%AF%BE%E5%87%A6\"><\/span>\u795e\u7d4c\u30fb\u7cbe\u795e\u75c7\u72b6\u3078\u306e\u5bfe\u51e6<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9707\u3048\uff1a\u30d7\u30ed\u30d7\u30e9\u30ce\u30ed\u30fc\u30eb\u3001\u30af\u30ed\u30ca\u30bc\u30d1\u30e0\u306a\u3069<\/li>\n\n\n\n<li>\u30b8\u30b9\u30c8\u30cb\u30a2\u30fb\u30d1\u30fc\u30ad\u30f3\u30bd\u30f3\u75c7\u72b6\uff1a\u6297\u30b3\u30ea\u30f3\u85ac\u3084\u30ec\u30dc\u30c9\u30d1<\/li>\n\n\n\n<li>\u7cbe\u795e\u75c7\u72b6\uff1a\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u6297\u7cbe\u795e\u75c5\u85ac\u3084\u6297\u3046\u3064\u85ac<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%89%8B%E8%A1%93%E7%9A%84%E6%B2%BB%E7%99%82\"><\/span>\u624b\u8853\u7684\u6cbb\u7642<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8133\u6df1\u90e8\u523a\u6fc0\u7642\u6cd5\uff08DBS\uff09\u3084\u8996\u5e8a\u7834\u58ca\u8853\u306f\u91cd\u5ea6\u306e\u30b8\u30b9\u30c8\u30cb\u30a2\u3084\u9707\u3048\u306b\u6709\u52b9\u306a\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%82%9D%E7%A7%BB%E6%A4%8D\"><\/span>\u809d\u79fb\u690d<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6025\u6027\u809d\u4e0d\u5168\u3084\u91cd\u5ea6\u306e\u809d\u786c\u5909\u3067\u85ac\u7269\u7642\u6cd5\u304c\u52b9\u679c\u306a\u3044\u5834\u5408\u306b\u691c\u8a0e<\/li>\n\n\n\n<li>\u795e\u7d4c\u75c7\u72b6\u306f\u6539\u5584\u3057\u306a\u3044\u3053\u3068\u3082\u3042\u308b\u305f\u3081\u3001\u614e\u91cd\u306a\u5224\u65ad\u304c\u5fc5\u8981<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%A3%9F%E4%BA%8B%E3%81%A8%E7%94%9F%E6%B4%BB\"><\/span>\u98df\u4e8b\u3068\u751f\u6d3b<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9285\u306e\u591a\u3044\u98df\u54c1\uff08\u30ec\u30d0\u30fc\u3001\u8c9d\u985e\u3001\u30c1\u30e7\u30b3\u30ec\u30fc\u30c8\u3001\u30ca\u30c3\u30c4\u985e\u306a\u3069\uff09\u3092\u907f\u3051\u308b<\/li>\n\n\n\n<li>\u9285\u542b\u6709\u306e\u6c34\u9053\u6c34\u3084\u30b5\u30d7\u30ea\u30e1\u30f3\u30c8\u3082\u6ce8\u610f<\/li>\n\n\n\n<li>6\u301c12\u304b\u6708\u3054\u3068\u306e\u5b9a\u671f\u7684\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u304c\u5fc5\u8981<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BA%88%E5%BE%8C_Prognosis\"><\/span>\u4e88\u5f8c | Prognosis<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u65e9\u671f\u306b\u8a3a\u65ad\u3057\u3001\u6cbb\u7642\u3092\u7d99\u7d9a\u3059\u308c\u3070\u3001\u5065\u5eb7\u306a\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059<\/li>\n\n\n\n<li>\u795e\u7d4c\u75c7\u72b6\u306f\u6cbb\u7642\u3057\u3066\u3082\u5b8c\u5168\u306b\u306f\u5143\u306b\u623b\u3089\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li>\u6cbb\u7642\u4e2d\u65ad\u3084\u975e\u9075\u5b88\uff08\u7279\u306b\u601d\u6625\u671f\uff09\u3067\u518d\u767a\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308a\u307e\u3059<\/li>\n\n\n\n<li>\u809d\u79fb\u690d\u306b\u3088\u308a\u809d\u6a5f\u80fd\u306f\u56de\u5fa9\u3057\u307e\u3059\u304c\u3001\u5168\u3066\u306e\u75c7\u72b6\u304c\u6539\u5584\u3059\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E8%A8%80%E8%91%89%E3%81%AE%E8%AA%AC%E6%98%8E%EF%BD%9CHelpful_Terms\"><\/span>\u3084\u3055\u3057\u3044\u8a00\u8449\u306e\u8aac\u660e\uff5cHelpful Terms <span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9285\uff08Copper\uff09<\/strong>\uff1a\u4eba\u9593\u306e\u4f53\u306b\u5fc5\u8981\u306a\u91d1\u5c5e\u3060\u304c\u3001\u591a\u3059\u304e\u308b\u3068\u6709\u5bb3\u306b\u306a\u308b<\/li>\n\n\n\n<li><strong>\u30bb\u30ed\u30ed\u30d7\u30e9\u30b9\u30df\u30f3\uff08Ceruloplasmin\uff09<\/strong>\uff1a\u8840\u6db2\u4e2d\u3067\u9285\u3092\u904b\u3076\u305f\u3093\u3071\u304f\u8cea<\/li>\n\n\n\n<li><strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\uff08Autosomal Recessive Inheritance\uff09<\/strong>\uff1a\u4e21\u89aa\u304b\u3089\u305d\u308c\u305e\u308c\u5909\u7570\u907a\u4f1d\u5b50\u30921\u3064\u305a\u3064\u53d7\u3051\u7d99\u3050\u3068\u75c5\u6c17\u306b\u306a\u308b<\/li>\n\n\n\n<li><strong>\u30ad\u30ec\u30fc\u30c8\u5264\uff08Chelating Agent\uff09<\/strong>\uff1a\u4f53\u306e\u4e2d\u306e\u6709\u5bb3\u306a\u91d1\u5c5e\u3092\u3064\u304b\u3093\u3067\u4f53\u306e\u5916\u306b\u51fa\u3059\u85ac<\/li>\n\n\n\n<li><strong>\u30ab\u30a4\u30b6\u30fc\u30fb\u30d5\u30e9\u30a4\u30b7\u30e3\u30fc\u8f2a\uff08Kayser\u2013Fleischer Ring\uff09<\/strong>\uff1a\u76ee\u306e\u89d2\u819c\u306b\u9285\u304c\u305f\u307e\u3063\u3066\u3067\u304d\u308b\u7dd1\u8272\u3084\u8336\u8272\u306e\u8f2a<\/li>\n\n\n\n<li><strong>\u30b8\u30b9\u30c8\u30cb\u30a2\uff08Dystonia\uff09<\/strong>\uff1a\u7b4b\u8089\u304c\u81ea\u5206\u306e\u610f\u5fd7\u3068\u95a2\u4fc2\u306a\u304f\u52d5\u3044\u3066\u3057\u307e\u3046\u72b6\u614b<\/li>\n\n\n\n<li><strong>\u809d\u786c\u5909\uff08Liver Cirrhosis\uff09<\/strong>\uff1a\u809d\u81d3\u304c\u304b\u305f\u304f\u306a\u308a\u3001\u3046\u307e\u304f\u50cd\u304b\u306a\u304f\u306a\u308b\u75c5\u6c17<\/li>\n\n\n\n<li><strong>\u514d\u75abSRM\uff08Immuno-SRM\uff09<\/strong>\uff1a\u8840\u6db2\u304b\u3089\u7279\u5b9a\u306e\u305f\u3093\u3071\u304f\u8cea\u3092\u6b63\u78ba\u306b\u6e2c\u308b\u691c\u67fb\u65b9\u6cd5<\/li>\n\n\n\n<li><strong>ATP7B\uff08\u907a\u4f1d\u5b50\uff09<\/strong>\uff1a\u9285\u3092\u4f53\u306e\u5916\u306b\u51fa\u3059\u50cd\u304d\u3092\u6301\u3064\u9175\u7d20\u306e\u8a2d\u8a08\u56f3\u3068\u306a\u308b\u907a\u4f1d\u5b50<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\"><\/span>\u5f15\u7528\u6587\u732e\uff5cReferences<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.celrep.2023.112417\">Yang, Guo-Min, et al. \u2018Structures of the Human Wilson Disease Copper Transporter ATP7B\u2019. <em>Cell Reports<\/em>, vol. 42, no. 5, May 2023, p. 112417. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.1016\/j.celrep.2023.112417.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1126\/sciadv.abl5508\">Bitter, Ryan M., et al. \u2018Structure of the Wilson Disease Copper Transporter ATP7B\u2019. Science Advances, vol. 8, no. 9, Mar. 2022, p. eabl5508. DOI.org (Crossref), https:\/\/doi.org\/10.1126\/sciadv.abl5508.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1053\/j.gastro.2021.02.052\">Collins, Christopher J., et al. \u2018Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease\u2019. Gastroenterology, vol. 160, no. 7, June 2021, pp. 2367-2382.e1. DOI.org (Crossref), https:\/\/doi.org\/10.1053\/j.gastro.2021.02.052.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/ijms25042402\">Ovchinnikova, Elena Vasilievna, et al. \u2018Epidemiology of Wilson\u2019s Disease and Pathogenic Variants of the ATP7B Gene Leading to Diversified Protein Disfunctions\u2019. <em>International Journal of Molecular Sciences<\/em>, vol. 25, no. 4, Feb. 2024, p. 2402. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.3390\/ijms25042402.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC12063596\/\">Ganaraja VH, Holla VV, Pal PK. Current Management of Neurological Wilson&#8217;s Disease. Tremor Other Hyperkinet Mov (N Y). 2025 May 5;15:17. doi: 10.5334\/tohm.938. PMID: 40351566; PMCID: PMC12063596.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/jcm10215097\">Kasztelan-Szczerbinska, Beata, and Halina Cichoz-Lach. \u2018Wilson\u2019s Disease: An Update on the Diagnostic Workup and Management\u2019. <em>Journal of Clinical Medicine<\/em>, vol. 10, no. 21, Oct. 2021, p. 5097. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.3390\/jcm10215097.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.gpeds.2024.100142\">Pop, Tudor Lucian, and Alina Grama. \u2018New Developments in the Management of Wilson\u2019s Disease in Children\u2019. <em>Global Pediatrics<\/em>, vol. 8, June 2024, p. 100142. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.1016\/j.gpeds.2024.100142.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39460617\/\">Perez G, Barber GP, Benet-Pages A, Casper J, Clawson H, Diekhans M, Fischer C, Gonzalez JN, Hinrichs AS, Lee CM, Nassar LR, Raney BJ, Speir ML, van Baren MJ, Vaske CJ, Haussler D, Kent WJ, Haeussler M. The UCSC Genome Browser database: 2025 update. Nucleic Acids Res. 2025 Jan 6;53(D1):D1243-D1249. doi: 10.1093\/nar\/gkae974. PMID: 39460617; PMCID: PMC11701590.<\/a><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89%EF%BD%9CKeywords\"><\/span>\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"has-text-align-center\"><sup><sup>\u30a6\u30a3\u30eb\u30bd\u30f3\u75c5, Wilson disease, ATP7B, \u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d, \u9285\u4ee3\u8b1d\u7570\u5e38, \u809d\u30ec\u30f3\u30ba\u6838\u5909\u6027\u75c7, \u30bb\u30ed\u30ed\u30d7\u30e9\u30b9\u30df\u30f3, \u30ab\u30a4\u30b6\u30fc\u30fb\u30d5\u30e9\u30a4\u30b7\u30e3\u30fc\u8f2a, \u795e\u7d4c\u75c7\u72b6, \u7cbe\u795e\u75c7\u72b6, \u809d\u786c\u5909, \u6025\u6027\u809d\u4e0d\u5168, \u30ad\u30ec\u30fc\u30c8\u7642\u6cd5, \u4e9c\u925b\u7642\u6cd5, \u30c8\u30ea\u30a8\u30f3\u30c1\u30f3, D-\u30da\u30cb\u30b7\u30e9\u30df\u30f3, \u907a\u4f1d\u5b50\u691c\u67fb, \u8cea\u91cf\u5206\u6790, \u904a\u96e2\u9285, \u4ea4\u63db\u53ef\u80fd\u9285, \u30d0\u30a4\u30aa\u30de\u30fc\u30ab\u30fc, \u8133MRI, \u5c0f\u5150\u809d\u75be\u60a3, \u5e0c\u5c11\u75be\u60a3, \u8907\u96d1\u306a\u75c7\u72b6, ATP\u30a2\u30fc\u30bc, \u69cb\u9020\u89e3\u6790, \u9285\u8f38\u9001, p.H1069Q, p.R778L, \u795e\u7d4c\u30a6\u30a3\u30eb\u30bd\u30f3\u75c5, \u9285\u8f38\u9001\u7d4c\u8def, \u809d\u79fb\u690d, \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0, \u30da\u30d7\u30c1\u30c9\u8a3a\u65ad, \u514d\u75abSRM, \u81e8\u5e8a\u30b9\u30b3\u30a2\u30ea\u30f3\u30b0, \u907a\u4f1d\u5b50\u6cbb\u7642<\/sup><\/sup><\/p>\n\n\n\n<!-- \u3042\u3044\u3046\u3048\u304a\u304b\u304d\u304f\u3051\u3053\u3055\u3057\u3059\u305b\u305d\u305f\u3061\u3064\u3066\u3068-->\n\n<script type=\"application\/ld+json\">\n{\n  \"@context\": \"https:\/\/schema.org\",\n  \"@type\": \"MedicalCondition\",\n  \"name\": \"\u30a6\u30a3\u30eb\u30bd\u30f3\u75c5\",\n  \"alternateName\": \"\u809d\u30ec\u30f3\u30ba\u6838\u5909\u6027\u75c7\",\n  \"description\": 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