{"id":111552,"date":"2025-06-16T11:02:02","date_gmt":"2025-06-16T02:02:02","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wilson-disease-symptoms-diagnosis-treatment\/"},"modified":"2025-08-22T09:46:45","modified_gmt":"2025-08-22T00:46:45","slug":"wilson-disease-symptoms-diagnosis-treatment","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wilson-disease-symptoms-diagnosis-treatment\/?lang=zh-hans","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_84 counter-hierarchy ez-toc-counter ez-toc-grey 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wilson-disease-symptoms-diagnosis-treatment\/?lang=zh-hans\/#%E6%B2%BB%E7%96%97%E4%B8%8E%E7%AE%A1%E7%90%86_%E6%B2%BB%E7%96%97%E4%B8%8E%E7%AE%A1%E7%90%86\" >\u6cbb\u7597\u4e0e\u7ba1\u7406 | \u6cbb\u7597\u4e0e\u7ba1\u7406<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wilson-disease-symptoms-diagnosis-treatment\/?lang=zh-hans\/#%E9%A2%84%E5%90%8E_%E9%A2%84%E5%90%8E\" >\u9884\u540e | \u9884\u540e<\/a><\/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\/wilson-disease-symptoms-diagnosis-treatment\/?lang=zh-hans\/#%E5%B8%B8%E8%A7%81%E6%9C%AF%E8%AF%AD_%E6%9C%89%E7%94%A8%E6%9C%AF%E8%AF%AD\" >\u5e38\u89c1\u672f\u8bed | \u6709\u7528\u672f\u8bed<\/a><\/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\/wilson-disease-symptoms-diagnosis-treatment\/?lang=zh-hans\/#%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-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wilson-disease-symptoms-diagnosis-treatment\/?lang=zh-hans\/#%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=\"%E6%A6%82%E8%BF%B0\"><\/span>\u6982\u8ff0<span class=\"ez-toc-section-end\"><\/span><\/h2>\n  <p style=\"margin: 0; font-size: 1rem; color: #444;\">\n    <p>\n\u5a01\u5c14\u900a\u75c5\u662f\u4e00\u79cd\u7f55\u89c1\u7684\u9057\u4f20\u6027\u75be\u75c5\uff0c\u60a3\u8005\u4f53\u5185\u65e0\u6cd5\u6709\u6548\u5730\u5904\u7406\u94dc\u8fd9\u79cd\u91d1\u5c5e\u3002\u968f\u7740\u94dc\u5728\u809d\u810f\u3001\u5927\u8111\u7b49\u5668\u5b98\u4e2d\u79ef\u7d2f\uff0c\u53ef\u80fd\u51fa\u73b0\u591a\u79cd\u75c7\u72b6\u3002\u82e5\u53ca\u65e9\u53d1\u73b0\u5e76\u8fdb\u884c\u6cbb\u7597\uff0c\u53ef\u4ee5\u8fc7\u4e0a\u63a5\u8fd1\u5065\u5eb7\u7684\u751f\u6d3b\u3002\n\n\u672c\u9875\u9762\u5c06\u7b80\u8981\u4ecb\u7ecd\u5a01\u5c14\u900a\u75c5\u7684\u539f\u56e0\u3001\u75c7\u72b6\u3001\u68c0\u67e5\u548c\u6cbb\u7597\u65b9\u6cd5\uff0c\u5e2e\u52a9\u60a3\u8005\u53ca\u5176\u5bb6\u5c5e\u4e86\u89e3\u8bca\u65ad\u548c\u6cbb\u7597\u8fc7\u7a0b\u3002\n\n<\/p>\n  <\/p>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%9B%B8%E5%85%B3%E5%9F%BA%E5%9B%A0%E5%8C%BA%E5%9F%9F_%E6%B6%89%E5%8F%8A%E5%9F%BA%E5%9B%A0\"><\/span>\u76f8\u5173\u57fa\u56e0\u533a\u57df | \u6d89\u53ca\u57fa\u56e0<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>\u5a01\u5c14\u900a\u75c5\u662f\u7531ATP7B\u57fa\u56e0\u7684\u7a81\u53d8\u5f15\u8d77\u7684\u9057\u4f20\u6027\u75be\u75c5\u3002ATP7B\u57fa\u56e0\u4f4d\u4e8e13\u53f7\u67d3\u8272\u4f53\u7684q14.3\u533a\u57df\uff0c\u8d1f\u8d23\u809d\u810f\u4e2d\u7684\u94dc\u8f6c\u8fd0\u9176\uff08\u94dc\u8f6c\u8fd0ATP\u9176\uff09\u7684\u7f16\u7801\u3002\u8be5\u9176\u7684\u4f5c\u7528\u662f\u5c06\u4f53\u5185\u9700\u8981\u7684\u5fae\u91cf\u91d1\u5c5e\u94dc\u6709\u6548\u5229\u7528\uff0c\u8fc7\u5269\u7684\u94dc\u5219\u901a\u8fc7\u80c6\u6c41\u6392\u51fa\u4f53\u5916\u3002<\/p>\n\n\n\n<p>ATP7B\u86cb\u767d\u5177\u6709\u4ee5\u4e0b\u7ed3\u6784\uff1a<\/p>\n\n\n\n<p>8\u4e2a\u819c\u7a7f\u900f\u533a\u57df\uff0c\u8d1f\u8d23\u94dc\u7684\u7ec6\u80de\u819c\u5185\u5916\u8fd0\u8f93\uff1b<\/p>\n\n\n\n<p>3\u4e2a\u7ec6\u80de\u5185\u529f\u80fd\u57df\uff0c\u7ed3\u5408\u5e76\u5206\u89e3ATP\uff0c\u6539\u53d8\u9176\u7684\u5f62\u6001\uff1b<\/p>\n\n\n\n<p>6\u4e2a\u91d1\u5c5e\u7ed3\u5408\u57df\uff0c\u7528\u4e8e\u63a5\u6536\u94dc\uff1b<\/p>\n\n\n\n<p>\u8c03\u8282\u529f\u80fd\u7684C\u672b\u7aef\u533a\u57df\u3002<\/p>\n\n\n\n<p>\u5f53ATP7B\u57fa\u56e0\u53d1\u751f\u75c5\u7406\u6027\u7a81\u53d8\u65f6\uff0c\u94dc\u7684\u6392\u6cc4\u529f\u80fd\u53d7\u635f\uff0c\u5bfc\u81f4\u94dc\u5728\u4f53\u5185\u79ef\u7d2f\uff0c\u8fbe\u5230\u6709\u6bd2\u6c34\u5e73\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E7%97%85%E5%90%8D%E7%A7%B0_%E7%97%85%E5%90%8D\"><\/span>\u75be\u75c5\u540d\u79f0 | \u75c5\u540d<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5a01\u5c14\u900a\u75c5\uff08Wilson disease, WD\uff09\u6216\u809d\u8c46\u72b6\u6838\u53d8\u6027\uff08Hepatolenticular degeneration\uff09\u662f\u4e00\u79cd\u5e38\u67d3\u8272\u4f53\u9690\u6027\u9057\u4f20\u75c5\uff08autosomal recessive inheritance\uff09\uff0c\u5373\u7236\u6bcd\u5404\u81ea\u9057\u4f20\u4e00\u4e2a\u53d8\u5f02\u57fa\u56e0\uff0c\u5b69\u5b50\u624d\u53ef\u80fd\u60a3\u75c5\u3002<\/p>\n\n\n\n<p>\u5a01\u5c14\u900a\u75c5\u662f\u4e00\u79cd\u5148\u5929\u6027\u4ee3\u8c22\u5f02\u5e38\u75c5\uff0c\u94dc\u4ee3\u8c22\u53d1\u751f\u5f02\u5e38\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E7%97%85%E6%A6%82%E5%86%B5_%E6%A6%82%E8%A6%81\"><\/span>\u75be\u75c5\u6982\u51b5 | \u6982\u8981<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5a01\u5c14\u900a\u75c5\u662f\u4e00\u79cd\u751f\u6765\u5c31\u65e0\u6cd5\u6392\u51fa\u4f53\u5185\u591a\u4f59\u94dc\u7684\u75be\u75c5\u3002\u6b63\u5e38\u60c5\u51b5\u4e0b\uff0c\u94dc\u4f5c\u4e3a\u9176\u7684\u7ec4\u6210\u90e8\u5206\u88ab\u5229\u7528\uff0c\u800c\u591a\u4f59\u7684\u94dc\u5219\u901a\u8fc7\u809d\u810f\u4e2d\u7684\u80c6\u6c41\u6392\u51fa\u3002\u5a01\u5c14\u900a\u75c5\u60a3\u8005\u65e0\u6cd5\u6b63\u5e38\u6392\u51fa\u94dc\uff0c\u5bfc\u81f4\u94dc\u5728\u809d\u810f\u3001\u5927\u8111\u3001\u773c\u775b\uff08\u89d2\u819c\uff09\u3001\u80be\u810f\u7b49\u5904\u79ef\u7d2f\u3002<\/p>\n\n\n\n<p>\u5a01\u5c14\u900a\u75c5\u7684\u75c7\u72b6\u901a\u5e38\u57285\u81f335\u5c81\u4e4b\u95f4\u51fa\u73b0\uff0c\u4f46\u4e5f\u6709\u53ef\u80fd\u66f4\u65e9\u6216\u66f4\u665a\u53d1\u75c5\u3002\u6700\u521d\u7684\u75c7\u72b6\u901a\u5e38\u8868\u73b0\u4e3a\u809d\u810f\u75be\u75c5\uff08\u5982\u809d\u708e\u6216\u809d\u786c\u5316\uff09\uff0c\u4f46\u795e\u7ecf\u75c7\u72b6\u6216\u7cbe\u795e\u75c7\u72b6\u4e5f\u53ef\u80fd\u9996\u5148\u51fa\u73b0\u3002\u773c\u90e8\u7684\u201c\u51ef\u6cfd-\u5f17\u83b1\u8c22\u5c14\u73af\u201d\uff08Kayser-Fleischer ring\uff09\u662f\u8bca\u65ad\u5a01\u5c14\u900a\u75c5\u7684\u91cd\u8981\u6807\u5fd7\u3002<\/p>\n\n\n\n<p>\u65e9\u671f\u8bca\u65ad\u548c\u7ec8\u8eab\u6cbb\u7597\u53ef\u4ee5\u8ba9\u60a3\u8005\u8fc7\u4e0a\u5065\u5eb7\u7684\u751f\u6d3b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B5%81%E8%A1%8C%E7%97%85%E5%AD%A6_%E7%96%AB%E5%AD%A6\"><\/span>\u6d41\u884c\u75c5\u5b66 | \u75ab\u5b66<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5a01\u5c14\u900a\u75c5\u662f\u4e00\u79cd\u7f55\u89c1\u75c5\uff08\u7a00\u6709\u75be\u75c5\uff09\uff0c\u4f46\u6700\u65b0\u7814\u7a76\u8868\u660e\u5176\u60a3\u75c5\u7387\u53ef\u80fd\u6bd4\u4e4b\u524d\u9884\u671f\u7684\u8981\u9ad8\u3002<\/p>\n\n\n\n<p>\u5168\u7403\u53d1\u75c5\u7387\u7ea6\u4e3a3\u4e07\u81f35\u4e07\u4eba\u4e2d1\u4f8b\uff1b<\/p>\n\n\n\n<p>\u4e00\u4e9b\u5730\u533a\uff08\u5982\u65e5\u672c\u3001\u4e2d\u56fd\u3001\u6492\u4e01\u5c9b\u7b49\uff09\u7684\u53d1\u75c5\u7387\u8f83\u9ad8\uff0c\u7ea6\u4e3a1\u4e07\u5206\u4e4b\u4e00\uff1b<\/p>\n\n\n\n<p>\u6700\u65b0\u7684\u57fa\u56e0\u5206\u6790\u63a8\u6d4b\uff0c\u5b9e\u9645\u53d1\u75c5\u6570\u53ef\u80fd\u4f4e\u4f30\u4e86\uff0c\u4e14\u672a\u8bca\u65ad\u7684\u643a\u5e26\u8005\u66f4\u591a\u3002<\/p>\n\n\n\n<p>\u75c5\u56e0 | \u539f\u56e0<\/p>\n\n\n\n<p>\u5a01\u5c14\u900a\u75c5\u7684\u539f\u56e0\u662fATP7B\u57fa\u56e0\u7684\u53cc\u91cd\u7a81\u53d8\u3002\u8be5\u57fa\u56e0\u7a81\u53d8\u4f1a\u5bfc\u81f4\u4ee5\u4e0b\u95ee\u9898\uff1a<\/p>\n\n\n\n<p>\u8840\u6db2\u4e2d\u7684\u94dc\u8fd0\u8f93\u86cb\u767d\u201c\u94dc\u84dd\u86cb\u767d\u201d\uff08ceruloplasmin\uff09\u5408\u6210\u4e0d\u8db3\uff1b<\/p>\n\n\n\n<p>\u94dc\u65e0\u6cd5\u901a\u8fc7\u80c6\u6c41\u6392\u51fa\uff0c\u79ef\u7d2f\u5728\u809d\u810f\u4e2d\uff1b<\/p>\n\n\n\n<p>\u968f\u7740\u94dc\u4ece\u809d\u810f\u91ca\u653e\u5230\u5168\u8eab\uff0c\u94dc\u5bf9\u5927\u8111\u3001\u80be\u810f\u3001\u89d2\u819c\u7b49\u5668\u5b98\u9020\u6210\u635f\u5bb3\u3002<\/p>\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_%E7%97%87%E7%8A%B6\"><\/span>\u75c7\u72b6 | \u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5a01\u5c14\u900a\u75c5\u7684\u75c7\u72b6\u6d89\u53ca\u591a\u4e2a\u5668\u5b98\uff0c\u53d6\u51b3\u4e8e\u94dc\u7684\u79ef\u7d2f\u90e8\u4f4d\u3002<\/p>\n\n\n\n<p>\u809d\u810f\uff08\u6700\u5148\u51fa\u73b0\u75c7\u72b6\uff09<\/p>\n\n\n\n<p>\u809d\u708e\u3001\u809d\u786c\u5316\u3001\u809d\u8870\u7aed\uff1b<\/p>\n\n\n\n<p>\u8179\u6c34\u3001\u9ec4\u75b8\uff08\u76ae\u80a4\u548c\u773c\u767d\u53d1\u9ec4\uff09\uff1b<\/p>\n\n\n\n<p>\u6025\u6027\u809d\u8870\u7aed\u4f34\u968f\u6eb6\u8840\u6027\u8d2b\u8840\uff08\u7ea2\u8840\u7403\u7834\u574f\uff09\uff1b<\/p>\n\n\n\n<p>\u6781\u5c11\u6570\u60c5\u51b5\u4e0b\uff0c\u809d\u764c\u3002<\/p>\n\n\n\n<p>\u795e\u7ecf\u7cfb\u7edf<\/p>\n\n\n\n<p>\u9707\u98a4\u3001\u808c\u8089\u50f5\u786c\uff1b<\/p>\n\n\n\n<p>\u8a00\u8bed\u56f0\u96be\u3001\u541e\u54bd\u56f0\u96be\uff1b<\/p>\n\n\n\n<p>\u75c9\u631b\uff08\u4e0d\u7531\u81ea\u4e3b\u7684\u808c\u8089\u8fd0\u52a8\u3001\u59ff\u52bf\u5f02\u5e38\uff09\uff1b<\/p>\n\n\n\n<p>\u6b65\u6001\u4e0d\u7a33\u3001\u8fd0\u52a8\u5931\u8c03\uff1b<\/p>\n\n\n\n<p>\u5e15\u91d1\u68ee\u6837\u75c7\u72b6\uff08\u52a8\u4f5c\u8fdf\u7f13\u3001\u9762\u90e8\u8868\u60c5\u51cf\u5c11\uff09\uff1b<\/p>\n\n\n\n<p>\u53d1\u4f5c\u3001\u8ba4\u77e5\u529f\u80fd\u4e0b\u964d\uff08\u8bb0\u5fc6\u529b\u548c\u96c6\u4e2d\u529b\u51cf\u9000\uff09\u3002<\/p>\n\n\n\n<p>\u7cbe\u795e\u75c7\u72b6<\/p>\n\n\n\n<p>\u60c5\u7eea\u6ce2\u52a8\u5267\u70c8\u3001\u6613\u6012\uff1b<\/p>\n\n\n\n<p>\u6291\u90c1\u3001\u7126\u8651\u3001\u4e0d\u7720\uff1b<\/p>\n\n\n\n<p>\u5728\u9752\u6625\u671f\u6216\u9752\u5e74\u671f\uff0c\u7cbe\u795e\u75be\u75c5\u53ef\u80fd\u9996\u5148\u88ab\u53d1\u73b0\u3002<\/p>\n\n\n\n<p>\u773c\u90e8\u8868\u73b0<\/p>\n\n\n\n<p>\u51ef\u6cfd-\u5f17\u83b1\u8c22\u5c14\u73af\uff08Kayser\u2013Fleischer ring\uff09\uff1a\u89d2\u819c\u5468\u56f4\u51fa\u73b0\u7eff\u8272\u6216\u68d5\u8272\u73af\uff1b<\/p>\n\n\n\n<p>\u5411\u65e5\u8475\u767d\u5185\u969c\uff1a\u5149\u7ebf\u53cd\u5c04\u4e0b\u5448\u73b0\u5411\u65e5\u8475\u5f62\u72b6\u7684\u6676\u72b6\u4f53\u6df7\u6d4a\uff08\u8f83\u4e3a\u7f55\u89c1\uff09\u3002<\/p>\n\n\n\n<p>\u80be\u810f\u4e0e\u5185\u5206\u6ccc\u7cfb\u7edf<\/p>\n\n\n\n<p>\u86cb\u767d\u5c3f\u3001\u6c28\u57fa\u9178\u5c3f\u3001\u7cd6\u5c3f\u7b49\u80be\u529f\u80fd\u8870\u9000\uff1b<\/p>\n\n\n\n<p>\u526f\u7532\u72b6\u817a\u529f\u80fd\u4e0d\u8db3\uff08\u5bfc\u81f4\u4f4e\u9499\u8840\u75c7\uff09\u3002<\/p>\n\n\n\n<p>\u9aa8\u9abc\u3001\u808c\u8089\u4e0e\u8840\u6db2<\/p>\n\n\n\n<p>\u9aa8\u8d28\u758f\u677e\u3001\u5173\u8282\u75bc\u75db\uff1b<\/p>\n\n\n\n<p>\u975e\u81ea\u8eab\u514d\u75ab\u6027\uff08\u5e93\u59c6\u65af\u9634\u6027\uff09\u6eb6\u8840\u6027\u8d2b\u8840\uff1b<\/p>\n\n\n\n<p>\u8840\u5c0f\u677f\u4e0e\u767d\u7ec6\u80de\u51cf\u5c11\uff08\u53ef\u80fd\u7531\u836f\u7269\u526f\u4f5c\u7528\u6216\u813e\u80bf\u5f15\u8d77\uff09\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A3%80%E6%9F%A5%E4%B8%8E%E8%AF%8A%E6%96%AD_%E6%A3%80%E6%B5%8B%E4%B8%8E%E8%AF%8A%E6%96%AD\"><\/span>\u68c0\u67e5\u4e0e\u8bca\u65ad | \u68c0\u6d4b\u4e0e\u8bca\u65ad<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5a01\u5c14\u900a\u75c5\u7684\u8bca\u65ad\u9700\u8981\u7ed3\u5408\u591a\u9879\u68c0\u67e5\uff1a<\/p>\n\n\n\n<p>\u8840\u6db2\u68c0\u67e5\uff1a<\/p>\n\n\n\n<p>\u94dc\u84dd\u86cb\u767d\uff08ceruloplasmin\uff09\uff1a\u4f4e\u4e8e20mg\/dL\u4e3a\u7591\u4f3c\u6807\u51c6\uff1b<\/p>\n\n\n\n<p>\u94dc\u542b\u91cf\uff1a\u901a\u8fc7\u8ba1\u7b97\u201c\u6e38\u79bb\u94dc\u201d\u6765\u8fdb\u4e00\u6b65\u786e\u8ba4\u3002<\/p>\n\n\n\n<p>\u5c3f\u68c0\uff1a<\/p>\n\n\n\n<p>24\u5c0f\u65f6\u5c3f\u94dc\u6392\u6cc4\u91cf\u8d85\u8fc7100\u00b5g\/\u65e5\u4e3a\u8bca\u65ad\u6807\u51c6\u3002<\/p>\n\n\n\n<p>\u5f71\u50cf\u5b66\u68c0\u67e5\uff1a<\/p>\n\n\n\n<p>MRI\uff08\u78c1\u5171\u632f\u6210\u50cf\uff09\uff1a\u5927\u8111\u57fa\u5e95\u6838\u548c\u4e18\u8111\u7b49\u533a\u57df\u51fa\u73b0T2\u4fe1\u53f7\u5f02\u5e38\uff1b<\/p>\n\n\n\n<p>\u88c2\u9699\u706f\u68c0\u67e5\uff1a\u89c2\u5bdf\u51ef\u6cfd-\u5f17\u83b1\u8c22\u5c14\u73af\u3002<\/p>\n\n\n\n<p>\u57fa\u56e0\u68c0\u6d4b\uff1a<\/p>\n\n\n\n<p>\u5efa\u8bae\u8fdb\u884cATP7B\u57fa\u56e0\u7684\u5168\u5916\u663e\u5b50\u5206\u6790\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%96%97%E4%B8%8E%E7%AE%A1%E7%90%86_%E6%B2%BB%E7%96%97%E4%B8%8E%E7%AE%A1%E7%90%86\"><\/span>\u6cbb\u7597\u4e0e\u7ba1\u7406 | \u6cbb\u7597\u4e0e\u7ba1\u7406<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5a01\u5c14\u900a\u75c5\u7684\u6cbb\u7597\u76ee\u6807\u662f\u6e05\u9664\u4f53\u5185\u8fc7\u591a\u7684\u94dc\uff0c\u5e76\u9632\u6b62\u5176\u518d\u6b21\u79ef\u7d2f\u3002\u9700\u8981\u7ec8\u8eab\u6cbb\u7597\u548c\u5b9a\u671f\u968f\u8bbf\u3002<\/p>\n\n\n\n<p>\u836f\u7269\u6cbb\u7597\uff1a<\/p>\n\n\n\n<p>D-\u9752\u9709\u80fa\uff08D-penicillamine\uff09\uff1a\u901a\u8fc7\u91d1\u5c5e\u87af\u5408\u4fc3\u8fdb\u94dc\u7684\u6392\u6cc4\uff1b<\/p>\n\n\n\n<p>\u4e09\u6c2e\u70ef\uff08Trientine\uff09\uff1a\u5728\u9752\u9709\u80fa\u4e0d\u80fd\u4f7f\u7528\u65f6\u4f5c\u4e3a\u66ff\u4ee3\uff1b<\/p>\n\n\n\n<p>\u950c\u76d0\uff08Zinc salts\uff09\uff1a\u6291\u5236\u80a0\u9053\u5438\u6536\u94dc\uff1b<\/p>\n\n\n\n<p>\u56db\u786b\u5316\u94bc\uff08Tetrathiomolybdate\uff09\uff1a\u7528\u4e8e\u795e\u7ecf\u75c7\u72b6\u7684\u9632\u6cbb\u3002<\/p>\n\n\n\n<p>\u795e\u7ecf\u4e0e\u7cbe\u795e\u75c7\u72b6\u6cbb\u7597\uff1a<\/p>\n\n\n\n<p>\u9707\u98a4\uff1a\u666e\u8418\u6d1b\u5c14\u3001\u6c2f\u785d\u897f\u6cee\uff1b<\/p>\n\n\n\n<p>\u75c9\u631b\u4e0e\u5e15\u91d1\u68ee\u75c7\u72b6\uff1a\u6297\u80c6\u78b1\u836f\u6216\u5de6\u65cb\u591a\u5df4\uff1b<\/p>\n\n\n\n<p>\u7cbe\u795e\u75c7\u72b6\uff1a\u6839\u636e\u9700\u8981\u4f7f\u7528\u6297\u7cbe\u795e\u75c5\u836f\u6216\u6297\u6291\u90c1\u836f\u3002<\/p>\n\n\n\n<p>\u624b\u672f\u6cbb\u7597\uff1a<\/p>\n\n\n\n<p>\u8111\u6df1\u90e8\u523a\u6fc0\uff08DBS\uff09\u6216\u4e18\u8111\u7834\u574f\u672f\u53ef\u7528\u4e8e\u91cd\u5ea6\u7684\u75c9\u631b\u6216\u9707\u98a4\u3002<\/p>\n\n\n\n<p>\u809d\u79fb\u690d\uff1a<\/p>\n\n\n\n<p>\u5728\u6025\u6027\u809d\u8870\u7aed\u6216\u91cd\u5ea6\u809d\u786c\u5316\u4e14\u836f\u7269\u6cbb\u7597\u65e0\u6548\u65f6\u8003\u8651\uff0c\u4f46\u795e\u7ecf\u75c7\u72b6\u53ef\u80fd\u4e0d\u4f1a\u6539\u5584\u3002<\/p>\n\n\n\n<p>\u996e\u98df\u4e0e\u751f\u6d3b\uff1a<\/p>\n\n\n\n<p>\u907f\u514d\u6444\u5165\u542b\u94dc\u4e30\u5bcc\u7684\u98df\u7269\uff08\u5982\u809d\u810f\u3001\u8d1d\u7c7b\u3001\u5de7\u514b\u529b\u3001\u575a\u679c\u7b49\uff09\uff1b<\/p>\n\n\n\n<p>\u6ce8\u610f\u907f\u514d\u542b\u94dc\u7684\u6c34\u548c\u8865\u5145\u5242\uff1b<\/p>\n\n\n\n<p>\u6bcf6\u4e2a\u6708\u81f312\u4e2a\u6708\u8fdb\u884c\u5b9a\u671f\u968f\u8bbf\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%A2%84%E5%90%8E_%E9%A2%84%E5%90%8E\"><\/span>\u9884\u540e | \u9884\u540e<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u65e9\u671f\u8bca\u65ad\u4e0e\u6301\u7eed\u6cbb\u7597\u53ef\u4ee5\u5e2e\u52a9\u60a3\u8005\u8fc7\u4e0a\u5065\u5eb7\u7684\u751f\u6d3b\uff0c\u4f46\u795e\u7ecf\u75c7\u72b6\u53ef\u80fd\u65e0\u6cd5\u5b8c\u5168\u6062\u590d\u3002\u6cbb\u7597\u4e2d\u65ad\u6216\u4e0d\u9075\u4ece\u6cbb\u7597\uff08\u5c24\u5176\u5728\u9752\u6625\u671f\uff09\u53ef\u80fd\u5bfc\u81f4\u75c5\u60c5\u590d\u53d1\u3002\u809d\u79fb\u690d\u53ef\u6062\u590d\u809d\u529f\u80fd\uff0c\u4f46\u5e76\u4e0d\u4e00\u5b9a\u80fd\u6539\u5584\u6240\u6709\u75c7\u72b6\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%B8%B8%E8%A7%81%E6%9C%AF%E8%AF%AD_%E6%9C%89%E7%94%A8%E6%9C%AF%E8%AF%AD\"><\/span>\u5e38\u89c1\u672f\u8bed | \u6709\u7528\u672f\u8bed<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u94dc\uff08Copper\uff09\uff1a\u5bf9\u4eba\u4f53\u81f3\u5173\u91cd\u8981\uff0c\u4f46\u8fc7\u591a\u65f6\u6709\u5bb3\uff1b<\/p>\n\n\n\n<p>\u94dc\u84dd\u86cb\u767d\uff08Ceruloplasmin\uff09\uff1a\u8840\u6db2\u4e2d\u7684\u94dc\u8fd0\u8f93\u86cb\u767d\uff1b<\/p>\n\n\n\n<p>\u5e38\u67d3\u8272\u4f53\u9690\u6027\u9057\u4f20\uff08Autosomal Recessive Inheritance\uff09\uff1a\u4ece\u7236\u6bcd\u5404\u81ea\u9057\u4f20\u4e00\u4e2a\u53d8\u5f02\u57fa\u56e0\uff1b<\/p>\n\n\n\n<p>\u91d1\u5c5e\u87af\u5408\u5242\uff08Chelating Agent\uff09\uff1a\u5e2e\u52a9\u6e05\u9664\u4f53\u5185\u6709\u5bb3\u91d1\u5c5e\u7684\u836f\u7269\uff1b<\/p>\n\n\n\n<p>\u51ef\u6cfd-\u5f17\u83b1\u8c22\u5c14\u73af\uff08Kayser\u2013Fleischer Ring\uff09\uff1a\u773c\u89d2\u819c\u51fa\u73b0\u7684\u7eff\u8272\u6216\u68d5\u8272\u73af\uff1b<\/p>\n\n\n\n<p>\u75c9\u631b\uff08Dystonia\uff09\uff1a\u808c\u8089\u7684\u4e0d\u81ea\u4e3b\u8fd0\u52a8\u3002<\/p>\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, <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-recessive-genetics-support\/\">\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d<\/a>, \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, 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