{"id":1686,"date":"2021-06-04T09:39:27","date_gmt":"2021-06-04T01:39:27","guid":{"rendered":"https:\/\/www.cfoh.org.tw\/?page_id=1686"},"modified":"2021-07-02T10:05:02","modified_gmt":"2021-07-02T02:05:02","slug":"case-1","status":"publish","type":"page","link":"https:\/\/www.cfoh.org.tw\/index.php\/nbs\/case\/case-1\/","title":{"rendered":"\u9ecf\u591a\u91a3\u75c7\u7b2c\u4e8c\u578b (MPS 2) \u81e8\u5e8a\u6848\u4f8b\u5206\u4eab"},"content":{"rendered":"\n

\u3010\u81e8\u5e8a\u6848\u4f8b\u5206\u4eab\u3011<\/strong><\/p>\n

\u3000\u3000\u6d3b\u6f51\u5e25\u6c23\u7684\u8340\u54e5\u76ee\u524d\u662f\u500b\u8070\u660e\u53ef\u611b\u7684\u5e7c\u7a1a\u5712\u5c0f\u73ed\u5b78\u751f\uff0c\u6700\u559c\u6b61\u4e0a\u5b78\u8ddf\u540c\u5b78\u4e00\u8d77\u4e92\u52d5\u5b78\u7fd2\u3002\u4f46\u5f9e\u4ed6\u7684\u5916\u8868\u4e0a\u53ef\u80fd\u770b\u4e0d\u51fa\uff0c\u4ed6\u5176\u5be6\u662f\u7f79\u60a3\u9ecf\u591a\u91a3\u75c7\u7b2c\u4e8c\u578b\u7684\u5b69\u5b50\u3002<\/p>\n

\u3000\u3000\u5abd\u5abd\u8aaa\uff0c\u9084\u8a18\u5f97\u8340\u54e5\u51fa\u751f\u5f8c\u6c92\u591a\u4e45\u5373\u88ab\u51fa\u751f\u91ab\u9662\u901a\u77e5\uff0c\u5bf6\u5bf6\u7684\u65b0\u751f\u5152\u7be9\u6aa2\u9ecf\u591a\u91a3\u75c7\u9805\u76ee\u8907\u6aa2\u672a\u901a\u904e\u3002\u56e0\u6b64\uff0c\u5728\u8340\u54e5\u51fa\u751f\u5f8c\u7684\u7b2c28\u5929\uff0c\u7238\u7238\u5abd\u5abd\u5e36\u8457\u5c1a\u672a\u6eff\u6708\u7684\u8340\u54e5\u5317\u4e0a\uff0c\u524d\u4f86\u53f0\u5317\u99ac\u5055\u91ab\u9662\u9032\u884c\u9032\u4e00\u6b65\u7684\u78ba\u8a8d\u8a3a\u65b7\u3002\u5728\u7d93\u904e\u4e00\u9023\u4e32\u76f8\u95dc\u7684\u6aa2\u67e5\u5f8c\u767c\u73fe\uff0c\u8340\u54e5\u7f79\u60a3\u4e86\u7b2c\u4e8c\u578b\u9ecf\u591a\u91a3\u75c7\uff0c\u7531\u65bc\u6975\u65e9\u63a5\u53d7\u8a3a\u65b7\uff0c\u7576\u4e0b\u9664\u4e86\u76f8\u95dc\u751f\u5316\u907a\u50b3\u6aa2\u6e2c\u6578\u503c\u504f\u9ad8\u5916\uff0c\u5c1a\u672a\u6709\u4efb\u4f55\u660e\u986f\u75c7\u72c0\u3002<\/p>\n

\u3000\u3000\u5abd\u5abd\u4e00\u908a\u7167\u9867\u8340\u54e5\u4e00\u908a\u7a4d\u6975\u8490\u96c6\u75be\u75c5\u76f8\u95dc\u8cc7\u6599\uff0c\u4e26\u8207\u91ab\u9662\u7aef\u4fdd\u6301\u826f\u597d\u8ffd\u8e64\u8207\u806f\u7e6b\uff0c\u5728\u8340\u54e5\u6eff\u5468\u6b72\u524d\u5915\uff0c\u56e0\u70ba\u75c5\u6cc1\u6240\u9700\uff0c\u958b\u59cb\u70ba\u8340\u54e5\u9032\u884c\u9175\u7d20\u66ff\u88dc\u6cbb\u7642\uff0c\u88dc\u5145\u8eab\u9ad4\u56e0\u57fa\u56e0\u7f3a\u640d\u6240\u5c0e\u81f4\u7684\u9175\u7d20\u7f3a\u4e4f\u3002\u5728\u7d93\u904e\u8207\u91ab\u5e2b\u53ca\u5bb6\u4eba\u7684\u4ed4\u7d30\u8a55\u4f30\u8a0e\u8ad6\u5f8c\uff0c\u5bb6\u4eba\u6c7a\u5b9a\u5728\u8340\u54e5\u4e00\u6b72\u4e94\u500b\u6708\u5927\u6642\uff0c\u63a5\u53d7\u4e86\u5e79\u7d30\u80de\u79fb\u690d\u6cbb\u7642\uff0c\u4e26\u5728\u91ab\u9662\u6cbb\u7642\u8a55\u4f30\u6eff\u5169\u500b\u6708\u5f8c\uff0c\u5f97\u4ee5\u9806\u5229\u51fa\u9662\u8fd4\u5bb6\u3002\u71ac\u904e\u4e86\u8271\u8f9b\u7684\u79fb\u690d\u7642\u7a0b\u4e4b\u5f8c\uff0c\u5728\u5404\u5c08\u79d1\u91ab\u5e2b\u7684\u7d9c\u5408\u8a55\u4f30\u4e0b\uff0c\u8340\u54e5\u5728\u6eff\u5169\u5468\u6b72\u7684\u524d\u5915\uff0c\u505c\u6b62\u4e86\u6bcf\u5468\u7684\u9175\u7d20\u66ff\u88dc\u6cbb\u7642\u3002\u622a\u81f3\u76ee\u524d\u70ba\u6b62\uff0c\u8340\u54e5\u7684\u5065\u5eb7\u767c\u5c55\u72c0\u6cc1\u826f\u597d\uff0c\u5e7e\u4e4e\u8207\u6b63\u5e38\u7684\u540c\u9f61\u5b69\u5b50\u7121\u7570\u3002<\/p>\n

\u3000\u3000\u9ecf\u591a\u91a3\u75c7\u662f\u4e00\u9805\u7de9\u6162\u6f38\u9032\u7684\u5168\u8eab\u6027\u75be\u75c5\uff0c\u82e5\u672a\u80fd\u53ca\u6642\u8a3a\u65b7\u4e26\u63a5\u53d7\u6cbb\u7642\uff0c\u56e0\u9ecf\u591a\u91a3\u5806\u7a4d\u800c\u529f\u80fd\u53d7\u640d\u7684\u5668\u5b98\u7d44\u7e54\u5c07\u4e0d\u53ef\u56de\u5fa9\u3002\u5abd\u5abd\u8aaa\uff0c\u56de\u60f3\u8d77\u9019\u6bb5\u904e\u5f80\u9084\u662f\u6703\u89ba\u5f97\u6709\u6709\u611f\u89f8\uff0c\u4f46\u5f88\u6176\u5e78\u7576\u6642\u6709\u63a5\u53d7\u65b0\u751f\u5152\u7be9\u6aa2\uff0c\u624d\u80fd\u53ca\u65e9\u767c\u73fe\u53ca\u65e9\u6cbb\u7642\u3002\u96d6\u7136\u8a3a\u65b7\u8207\u6cbb\u7642\u7684\u904e\u7a0b\u6709\u4e9b\u8f9b\u82e6\uff0c\u4f46\u80fd\u5920\u63db\u5f97\u5b69\u5b50\u7684\u5065\u5eb7\uff0c\u662f\u6700\u5bf6\u8cb4\u7684\u4e8b\u4e86\u3002\u4e5f\u5e0c\u671b\u5c07\u9019\u6bb5\u7d93\u9a57\u5206\u4eab\u7d66\u5404\u4f4d\u5bb6\u9577\uff0c\u63d0\u4f9b\u95dc\u5fc3\u5b69\u5b50\u5065\u5eb7\u7684\u7238\u7238\u5abd\u5abd\u5011\u66f4\u591a\u7d93\u9a57\u53c3\u8003\u3002<\/p>\n

\u3010\u9ecf\u591a\u91a3\u75c7\u75be\u75c5\u4ecb\u7d39\u3011<\/strong><\/p>\n

\u3000\u3000\u9ecf\u591a\u91a3\u662f\u4e00\u7a2e\u9577\u93c8\u7684\u91a3\u5206\u5b50\uff0c\u662f\u4eba\u9ad4\u5167\u69cb\u6210\u9aa8\u9abc\u3001\u8840\u7ba1\u3001\u76ae\u819a\u7b49\u5668\u5b98\u7684\u91cd\u8981\u6210\u5206\u4e4b\u4e00\uff0c\u9700\u8981\u4eba\u9ad4\u5167\u6eb6\u5c0f\u9ad4\u7684\u591a\u7a2e\u9175\u7d20\u5171\u540c\u5c07\u5176\u5206\u89e3\u4ee3\u8b1d\u3002\u9ecf\u591a\u91a3\u75c7\u4e4b\u5168\u540d\u70ba\u9ecf\u591a\u91a3\u5132\u7a4d\u75c7\uff0c\u662f\u4e00\u7a2e\u7f55\u898b\u7684\u907a\u50b3\u6027\u4ee3\u8b1d\u75be\u75c5\uff0c\u56e0\u70ba\u57fa\u56e0\u7f3a\u9677\u800c\u5c0e\u81f4\u7d30\u80de\u5167\u6eb6\u5c0f\u9ad4\u7684\u7f3a\u640d\uff0c\u9020\u6210\u9ecf\u591a\u91a3\u7121\u6cd5\u4ee3\u8b1d\u800c\u5806\u7a4d\u5728\u7d30\u80de\u5167\uff0c\u50b7\u5bb3\u8eab\u9ad4\u7684\u7d44\u7e54\u8207\u5668\u5b98\uff0c\u9032\u800c\u5f71\u97ff\u75c5\u60a3\u7684\u5065\u5eb7\u8207\u751f\u9577\u767c\u80b2\u3002\u7531\u65bc\u4e0d\u540c\u7684\u9175\u7d20\u7f3a\u4e4f\uff0c\u5c0e\u81f4\u4e0d\u540c\u7684\u75c7\u72c0\u3002\u9ecf\u591a\u91a3\u75c7\u5728\u81e8\u5e8a\u4e0a\u53ef\u5206\u70ba\u4e03\u5927\u985e\u578b\uff0c\u4e26\u7d30\u5206\u621011\u7a2e\u4e9e\u578b\uff0c\u662f\u4e00\u500b\u76f8\u7576\u8907\u96dc\u7684\u8de8\u79d1\u5225\u75be\u75c5\u3002\u75c5\u60a3\u5728\u78ba\u5b9a\u8a3a\u65b7\u5f8c\uff0c\u82e5\u672a\u80fd\u63a5\u53d7\u5c08\u696d\u7684\u6574\u5408\u91ab\u7642\u8207\u5b8c\u6574\u7684\u907a\u50b3\u8aee\u8a62\uff0c\u53ef\u80fd\u9020\u6210\u75c5\u60a3\u3001\u5e36\u56e0\u8005\u3001\u53ca\u5176\u5bb6\u5ead\u6210\u54e1\u6975\u5927\u7684\u8eab\u5fc3\u885d\u64ca\uff0c\u5bb6\u65cf\u4e2d\u9019\u6a23\u7684\u75be\u75c5\u4ea6\u53ef\u80fd\u518d\u5ea6\u767c\u751f\uff0c\u5c0d\u65bc\u539f\u672c\u5931\u8861\u7684\u5bb6\u5ead\u4f86\u8aaa\uff0c\u7121\u7570\u662f\u96ea\u4e0a\u52a0\u971c\u3002\u56e0\u6b64\uff0c\u91ab\u7642\u5718\u968a\u9664\u4e86\u63d0\u4f9b\u91ab\u7642\u670d\u52d9\u5916\uff0c\u63d0\u4f9b\u500b\u6848\u8207\u5bb6\u5c6c\u5b8c\u6574\u7684\u5c08\u696d\u8cc7\u8a0a\uff0c\u4ea6\u662f\u9ecf\u591a\u91a3\u75c7\u81e8\u5e8a\u5de5\u4f5c\u4e2d\uff0c\u5341\u5206\u91cd\u8981\u7684\u5de5\u4f5c\u9805\u76ee\u4e4b\u4e00\u3002<\/p>\n

\u3010\u9ecf\u591a\u91a3\u75c7\u7684\u767c\u751f\u7387\u8207\u907a\u50b3\u6a21\u5f0f\u3011<\/strong><\/p>\n

\u3000\u3000\u9ecf\u591a\u91a3\u75c7\u5c6c\u65bc\u7f55\u898b\u75be\u75c5\uff0c\u5176\u767c\u751f\u7387\u56e0\u5730\u5340\u8207\u7a2e\u65cf\u800c\u6709\u6240\u4e0d\u540c\u3002\u5728\u53f0\u7063\u5730\u5340\u7684\u767c\u751f\u7387\u7d04\u70ba\u4e94\u842c\u5206\u4e4b\u4e00\u3002\u53f0\u7063\u6700\u5e38\u898b\u7684\u9ecf\u591a\u91a3\u75c7\u70ba\u7b2c\u4e8c\u578b\uff0c\u4e4b\u5f8c\u4f9d\u5e8f\u70ba\u7b2c\u4e09\u3001\u56db\u3001\u4e00\u3001\u516d\u3001\u4e03\u578b\uff0c\u76ee\u524d\u5c1a\u7121\u7b2c\u4e5d\u578b\u7684\u75c5\u4f8b\u5831\u544a\u3002<\/p>\n

\u3000\u3000\u9ecf\u591a\u91a3\u75c7\u5927\u591a\u6578\u70ba\u9ad4\u67d3\u8272\u9ad4\u96b1\u6027\u907a\u50b3\u75be\u75c5\uff0c\u552f\u4e00\u7684\u4f8b\u5916\u662f\u7b2c\u4e8c\u578b\u9ecf\u591a\u91a3\u75c7\uff0c\u70ba\uff38\u67d3\u8272\u9ad4\u6027\u806f\u907a\u50b3\u6a21\u5f0f\u3002\u9ad4\u67d3\u8272\u9ad4\u96b1\u6027\u907a\u50b3\u6a21\u5f0f\uff0c\u4e43\u70ba\u5f9e\u7236\u6bcd\u96d9\u89aa\u8655\u5404\u5f97\u5230\u4e00\u689d\u5e36\u6709\u7f3a\u9677\u57fa\u56e0\u7684\u67d3\u8272\u9ad4\uff0c\u4e0d\u5206\u7537\u5973\u767c\u75c5\u7387\u7686\u70ba25%\uff1b\u82e5\u50c5\u5e36\u6709\u4e00\u689d\u7f3a\u9677\u57fa\u56e0\u7684\u67d3\u8272\u9ad4\uff0c\u5247\u53ef\u80fd\u4e0d\u6703\u767c\u75c5\uff0c\u901a\u5e38\u7a31\u4e4b\u70ba\u5e36\u56e0\u8005(Carrier)\uff0c\u4e0d\u5206\u7537\u5973\u5e36\u56e0\u6a5f\u7387\u70ba50%\u3002<\/p>\n\n\n\n\n\n
\n

\u907a\u50b3\u6a21\u5f0f<\/strong><\/p>\n<\/td>\n

\n

\u9ecf\u591a\u91a3\u75c7\u5206\u578b<\/strong><\/p>\n<\/td>\n<\/tr>\n

\n

\u9ad4\u67d3\u8272\u96b1\u6027\u907a\u50b3<\/p>\n<\/td>\n

\n

\u9ecf\u591a\u91a3\u75c7\u7b2c\u4e00\u3001\u4e09\u3001\u56db\u3001\u516d\u3001\u4e03\u3001\u4e5d\u578b<\/p>\n<\/td>\n<\/tr>\n

\n

X\u67d3\u8272\u9ad4\u6027\u806f\u907a\u50b3<\/p>\n<\/td>\n

\n

\u9ecf\u591a\u91a3\u75c7\u7b2c\u4e8c\u578b<\/p>\n<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

\u3000\u3000\u9ecf\u591a\u91a3\u75c7\u7b2c\u4e8c\u578b\u70baX\u67d3\u8272\u9ad4\u6027\u806f\u907a\u50b3\u6a21\u5f0f\uff0c\u82e5\u5728\u7236\u89aa\u70ba\u75c5\u60a3\u7684\u60c5\u6cc1\u4e0b\uff0c\u5973\u5b69\u7686\u6703\u6210\u70ba\u5e36\u56e0\u8005\uff1b\u82e5\u6bcd\u89aa\u70ba\u5e36\u56e0\u8005\uff0c\u5247\u670925%\u7684\u6a5f\u6703\u751f\u4e0b\u5e36\u6709\u76f8\u540c\u57fa\u56e0\u7f3a\u9677\u7684\u7537\u5b69(hemizygous)\uff0c\u6210\u70ba\u9ecf\u591a\u91a3\u75c7\u75c5\u60a3\uff0c25%\u7684\u6a5f\u6703\u751f\u4e0b\u5e36\u6709\u76f8\u540c\u57fa\u56e0\u7684\u5973\u5b69(Carrier)\u3002<\/p>\n

\u3010\u9ecf\u591a\u91a3\u75c7\u7684\u8a3a\u65b7\u65b9\u5f0f\u3011<\/strong><\/p>\n

\u9ecf\u591a\u91a3\u75c7\u7684\u8a3a\u65b7\u65b9\u5f0f\u76ee\u524d\u5927\u81f4\u53ef\u4ee5\u5206\u6210\uff1a<\/p>\n

    \n
  1. \u65b0\u751f\u5152\u7be9\u6aa2\uff08Newborn Screening\uff09\uff1a\u900f\u904e\u65b0\u751f\u5152\u8840\u7247\u9175\u7d20\u7be9\u6aa2\u65b9\u5f0f(Dried blood spot testing)\uff0c\u91dd\u5c0d\u5168\u570b\u65b0\u751f\u5152\u7be9\u6aa2\u4e2d\u5fc3\u4e4b\u7591\u967d\u6027\u8207\u967d\u6027\u8f49\u4ecb\u500b\u6848\uff0c\u5728\u5c1a\u672a\u51fa\u73fe\u81e8\u5e8a\u75c7\u72c0\u524d\u9032\u884c\u6574\u5408\u78ba\u8a8d\u8a3a\u65b7\uff0c\u4ee5\u9054\u5230\u672a\u767c\u75c5\u524d\u4e4b\u5b8c\u6574\u91ab\u7642\u8ffd\u8e64\u8a08\u756b\u76ee\u6a19\u3002<\/li>\n<\/ol>\n
      \n
    • \u5df2\u78ba\u8a3a\u70ba\u9ecf\u591a\u91a3\u75c7\uff0c\u4f46\u5c1a\u672a\u51fa\u73fe\u81e8\u5e8a\u75c7\u72c0\u4e4b\u500b\u6848\uff1a\u76ee\u524d\u5b89\u6392\u6bcf3-6\u500b\u6708\u56de\u9580\u8a3a\u8ffd\u8e64\u4e00\u6b21\uff0c\u5728\u75c7\u72c0\u958b\u59cb\u51fa\u73fe\u4e4b\u524d\uff0c\u53ca\u65e9\u8a55\u4f30\u9175\u7d20\u66ff\u4ee3\u6cbb\u7642\u6216\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\u7684\u53ef\u884c\u6027\uff0c\u4ee5\u671f\u9054\u5230\u6700\u4f73\u7684\u6cbb\u7642\u6548\u679c\u3002<\/li>\n
    • \u5df2\u78ba\u8a3a\u70ba\u61c9\u975e\u5178\u578b\u9ecf\u591a\u91a3\u75c7\uff0c\u4f46\u5176\u8840\u6db2\u9175\u7d20\u6d3b\u6027\u4ecd\u504f\u4f4e\u4e4b\u500b\u6848\uff1a\u76ee\u524d\u5b89\u6392\u6bcf\u5e74\u56de\u8a3a\u9032\u884c\u8ffd\u8e64\uff0c\u76f4\u5230\u516d\u6b72\u5165\u5c0f\u5b78\u524d\uff0c\u4ee5\u78ba\u5b9a\u5176\u5404\u9805\u751f\u7406\u6307\u6a19\u8207\u751f\u9577\u767c\u80b2\u7686\u7121\u7570\u5e38\u3002<\/li>\n<\/ul>\n
        \n
      1. \u9ad8\u98a8\u96aa\u65cf\u7fa4\u7be9\u6aa2\uff08High-Risk Screening\uff09\uff1a\u900f\u904e\u5fc3\u81df\u79d1\u3001\u8033\u9f3b\u5589\u79d1\u3001\u5c0f\u5152\u5916\u79d1\u3001\u5c0f\u5152\u9aa8\u79d1\u8207\u907a\u50b3\u5b78\u79d1\u91ab\u5e2b\u4e4b\u9593\u7684\u8de8\u79d1\u5408\u4f5c\uff0c\u91dd\u5c0d\u7591\u4f3c\u500b\u6848\u9032\u884c\u9ad8\u98a8\u96aa\u65cf\u7fa4\u5c3f\u6db2\u9ecf\u591a\u91a3\u9ad4\u6aa2\u6e2c(Urine GAG testing)\uff0c\u4ee5\u9054\u5230\u65e9\u671f\u767c\u73fe\u3001\u65e9\u671f\u6cbb\u7642\u4e4b\u7cbe\u6e96\u91ab\u7642\u6982\u5ff5\u3002<\/li>\n<\/ol>\n

        \u3010\u9ecf\u591a\u91a3\u75c7\u7684\u5fc3\u7406\u793e\u6703\u652f\u6301\u3011<\/strong><\/p>\n

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        \u672c\u6587\u5167\u5bb9\u7531\u8340\u54e5\u5abd\u5abd\u63d0\u4f9b\uff0c\u53f0\u5317\u99ac\u5055\u91ab\u9662\u7f55\u75c5\u4e2d\u5fc3\u5f35\u96c5\u60e0\u907a\u50b3\u8aee\u8a62\u5e2b\u7de8\u8f2f\u6574\u7406\u3002<\/strong><\/p>\n

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