{"id":56,"date":"2017-12-01T19:08:51","date_gmt":"2017-12-01T11:08:51","guid":{"rendered":"http:\/\/u2.cfoh.org.tw\/?page_id=56"},"modified":"2019-09-27T17:59:19","modified_gmt":"2019-09-27T09:59:19","slug":"lsd","status":"publish","type":"page","link":"https:\/\/www.cfoh.org.tw\/index.php\/item\/lsd\/","title":{"rendered":"\u6eb6\u5c0f\u9ad4\u5132\u7a4d\u75c7"},"content":{"rendered":"<h2 style=\"text-align: justify;\"><strong><span style=\"font-size: 18pt;\">\u9f90\u8c9d\u6c0f\u75c7 (Pompe Disease)<\/span><\/strong><\/h2>\n<div class=\"artical\">\n<p class=\"ti_0 p_ul\" style=\"text-align: justify;\"><strong><span style=\"font-size: 14pt;\">\u4f55\u8b02\u9f90\u8c9d\u6c0f\u75c7?<\/span><\/strong><\/p>\n<p style=\"padding-left: 40px; text-align: justify;\">\u9f90\u8c9d\u6c0f\u75c7\u662f\u4e00\u7a2e\u6eb6\u5c0f\u9ad4\u809d\u91a3\u5132\u7a4d\u75c7\uff0c\u5e38\u88ab\u7a31\u70ba\u809d\u91a3\u5132\u7a4d\u75c7\u7b2c\u4e8c\u578b\uff0c\u91ab\u5e2b\u89e3\u91cb\uff0c\u5728\u4e00\u822c\u60c5\u6cc1\u4e0b\uff0c\u6eb6\u5c0f\u9ad4\u53ef\u4ee5\u6d88\u5316\u3001\u6eb6\u89e3\u9ad4\u5167\u5ee2\u7269\uff0c\u4f46\u662f\u9f90\u8c9d\u6c0f\u75c7\u60a3\u8005\u56e0\u70ba\u6eb6\u5c0f\u9ad4\u7f3a\u4e4f\u4e00\u7a2e\u9178\u6027\u9ea5\u82bd\u7cd6\u9175\u7d20\uff0c\u4f7f\u5f97\u9032\u5165\u6eb6\u5c0f\u9ad4\u7684\u809d\u91a3\u7121\u6cd5\u88ab\u5206\u89e3\u800c\u6301\u7e8c\u5806\u7a4d\uff0c\u9032\u800c\u5f71\u97ff\u5230\u7d30\u80de\u7684\u529f\u80fd\u3002<\/p>\n<p class=\"ti_0 p_ul\" style=\"text-align: justify;\"><strong><span style=\"font-size: 14pt;\">\u9020\u6210\u9f90\u8c9d\u6c0f\u75c7\u7684\u539f\u56e0\u6709\u54ea\u4e9b?<\/span><\/strong><\/p>\n<p style=\"padding-left: 40px; text-align: justify;\">\u9020\u6210\u9f90\u8c9d\u6c0f\u75c7\u7684\u539f\u56e0\uff0c\u5728\u65bc\u809d\u91a3\u4e0d\u80fd\u8f49\u5316\u8461\u8404\u7cd6\u800c\u7121\u6cd5\u7522\u751f\u80fd\u91cf\uff0c\u9032\u800c\u5c0e\u81f4\u60a3\u8005\u56db\u80a2\u7121\u529b\uff0c\u56e0\u800c\u53c8\u7a31\u70ba\u300c\u8edf\u5bf6\u5bf6\u300d\uff0c\u4e26\u6709\u547c\u5438\u56f0\u96e3\u548c\u5fc3\u81df\u8870\u7aed\u7684\u75c7\u72c0\uff1b\u60a3\u8005\u770b\u8d77\u4f86\u820c\u982d\u7a81\u51fa\uff0c\u5fc3\u81df\u80a5\u5927\u3002<\/p>\n<p class=\"ti_0 p_ul\" style=\"text-align: justify;\"><strong><span style=\"font-size: 14pt;\">\u9f90\u8c9d\u6c0f\u75c7\u6703\u6709\u4ec0\u9ebc\u75c7\u72c0?<\/span><\/strong><\/p>\n<p style=\"padding-left: 40px; text-align: justify;\">\u5b30\u5152\u578b\u9f90\u8c9d\u6c0f\u75c7\u60a3\u8005\u5728\u51fa\u751f\u6642\u901a\u5e38\u662f\u6b63\u5e38\u7684\u3002\u5927\u90e8\u5206\u7684\u60a3\u5b30\u5728\u5169\u3001\u4e09\u500b\u6708\u5927\u6642\uff0c\u6703\u51fa\u73fe\u56db\u80a2\u6d3b\u52d5\u529b\u5dee\uff0c\u53ca\u982d\u90e8\u63a7\u5236\u529b\u5dee\u7b49\u75c7\u72c0, \u5728\u4e09\uff0c\u56db\u500b\u6708\u5927\u6642\uff0c\u5e38\u56e0\u70ba\u7f79\u60a3\u6c23\u7ba1\u708e\uff0c\u9032\u884c\u80f8\u90e8\uff38\u5149\u6aa2\u67e5\u6642\u767c\u73fe\u5fc3\u81df\u80a5\u5927\u3002\u808c\u8089\u7121\u529b\u53ca\u5fc3\u81df\u80a5\u5927\u7684\u75c7\u72c0\u6703\u6301\u7e8c\u60e1\u5316\uff0c\u4e00\u822c\u60a3\u8005\u5728\u4e00\u6b72\u4ee5\u524d\u6703\u56e0\u5fc3\u81df\u8870\u7aed\u6216\u547c\u5438\u8870\u7aed\u800c\u6b7b\u4ea1\u3002 \u6240\u4ee5\u9032\u884c\u7be9\u6aa2\u767c\u73fe\u5f8c,\u5728\u4e00\u500b\u6708\u5de6\u53f3\u5c1a\u672a\u6709\u75c7\u72c0\u6642\u5c31\u91ab,\u8f03\u53ef\u9054\u5230\u65e9\u671f\u6cbb\u7642\u7684\u6548\u679c\u3002<\/p>\n<p class=\"ti_0 p_ul\" style=\"text-align: justify;\"><strong><span style=\"font-size: 14pt;\">\u9f90\u8c9d\u6c0f\u75c7\u7684\u767c\u751f\u7387\u70ba\u4f55?<\/span><\/strong><\/p>\n<p style=\"padding-left: 40px; text-align: justify;\">\u9f90\u8c9d\u6c0f\u75c7\u7684\u767c\u751f\u7387\u5728\u53f0\u7063\u7d04\u70ba\u4e09\u842c\u81f3\u56db\u842c\u5206\u4e4b\u4e00\u3002<\/p>\n<p class=\"ti_0 p_ul\" style=\"text-align: justify;\"><strong><span style=\"font-size: 14pt;\">\u65b0\u751f\u5152\u7be9\u6aa2\u901a\u77e5\u7570\u5e38(\u7591\u967d\u6027)\u4e4b\u8655\u7406?<\/span><\/strong><\/p>\n<p style=\"padding-left: 40px; text-align: justify;\">\u65b0\u751f\u5152\u51fa\u751f\u6eff\uff14\uff18\u5c0f\u6642\u5f8c\uff0c\u900f\u904e\u65b0\u751f\u5152\u7be9\u6aa2\uff0c\u6e2c\u5b9a\u5bf6\u5bf6\u8840\u6db2\u4e2d\u9178\u6027 \u03b1 &#8211; \u8461\u8404\u7cd6\u82f7\u9176\u7684\u9175\u7d20\u6d3b\u6027\uff0c\u53ef\u4ee5\u6aa2\u6e2c\u51fa\u5b30\u5152\u578b\u9f90\u8c9d\u6c0f\u75c7\u7684\u60a3\u8005\u3002\u7576\u8840\u7247\u542b\u91cf\u4f4e\u65bc\u6b63\u5e38\u503c\uff0c\u63a5\u7372\u901a\u77e5\u5f8c\u8acb\u5118\u901f\u914d\u5408\u91ab\u7642\u4eba\u54e1\u6307\u793a\u56de\u8a3a\uff0c\u5982\u5b30\u5152\u6709\u7279\u6b8a\u75c7\u72c0\u7522\u751f\u7acb\u5373\u8207\u65b0\u751f\u5152\u7be9\u6aa2\u4e2d\u5fc3\u6216\u7576\u5730\u6240\u5c6c\u8f49\u4ecb\u91ab\u9662\u806f\u7d61\uff0c\u5c0b\u6c42\u6b63\u78ba\u91ab\u7642\u652f\u63f4\u3002 \u500b\u6848\u5728\u525b\u51fa\u751f\u6642\u901a\u5e38\u6c92\u6709\u660e\u986f\u7684\u75c7\u72c0\uff0c\u4f46\u662f\u7b49\u5230\u75c7\u72c0\u660e\u986f\u5f8c\uff0c\u53ef\u80fd\u5df2\u7d93\u932f\u904e\u4e86\u6cbb\u7642\u7684\u6700\u4f73\u6642\u6a5f\u3002\u900f\u904e\u65e9\u671f\u7be9\u6aa2\uff0c\u7d66\u4e88\u65b0\u751f\u5152\u53ca\u65e9\u4e14\u9069\u5207\u7684\u6cbb\u7642\uff0c\u5c31\u662f\u7be9\u6aa2\u7684\u76ee\u7684\u3002<\/p>\n<p class=\"ti_0 p_ul\" style=\"text-align: justify;\"><strong><span style=\"font-size: 14pt;\">\u5982\u4f55\u78ba\u8a8d\u8a3a\u65b7\u662f\u5426\u60a3\u6709\u9f90\u8c9d\u6c0f\u75c7?<\/span><\/strong><\/p>\n<ul style=\"text-align: justify;\">\n<li>\u5bb6\u65cf\u53f2\u53ca\u5bb6\u65cf\u5206\u6790<\/li>\n<li>\u5b30\u5152\u53ca\u7236\u6bcd\u89aa\u4e4b\u8840\u7403GAA\u9175\u7d20\u6d3b\u6027<\/li>\n<li>\u5b30\u5152\u8840\u7403\uff08CBC\/DC\uff09\u5206\u6790<\/li>\n<li>\u5b30\u5152\u8840\u6db2\u9175\u7d20\u5206\u6790\uff1aCK, CKMB, BNP<\/li>\n<li>\u5b30\u5152\u5c3f\u6db2Glu4\u5206\u6790<\/li>\n<li>\u5b30\u5152\u80f8\u90e8X\u5149\u3001\u5fc3\u96fb\u5716\u5206\u6790<\/li>\n<li>\u5b30\u5152\u53ca\u7236\u6bcd\u89aa\u4e4b\u57fa\u56e0\u5206\u6790<\/li>\n<\/ul>\n<p class=\"ti_0 p_ul\" style=\"text-align: justify;\"><strong><span style=\"font-size: 14pt;\">\u5982\u4f55\u6cbb\u7642\u9f90\u8c9d\u6c0f\u75c7?<\/span><\/strong><\/p>\n<p style=\"padding-left: 40px; text-align: justify;\">\u9f90\u8c9d\u6c0f\u75c7\u4e4b\u6cbb\u7642\uff0c\u662f\u4ee5\u57fa\u56e0\u5de5\u7a0b\u7684\u6280\u8853\uff0c\u88fd\u9020\u60a3\u8005\u6240\u7f3a\u4e4f\u7684\u9175\u7d20\uff0c\u4ee5\u6ce8\u5c04\u7684\u65b9\u5f0f\u88dc\u5145\u60a3\u8005\u9ad4\u5167\u7684\u7f3a\u4e4f\uff0c\u77ef\u6b63\u5176\u75be\u75c5\u3002\u4e00\u4e9b\u6cbb\u7642\u6210\u529f\u7684\u500b\u6848\uff0c\u5728\u4e00\u3001\u4e8c\u6b72\u6642\u5df2\u7d93\u53ef\u4ee5\u6b63\u5e38\u7684\u884c\u8d70\u3002\u4f46\u662f\u5982\u679c\u958b\u59cb\u6cbb\u7642\u7684\u6642\u9593\u592a\u665a\uff0c\u5c31\u6c92\u6709\u8fa6\u6cd5\u9054\u5230\u6cbb\u7642\u7684\u6548\u679c\u3002<\/p>\n<\/div>\n\n\n<h3><strong><span style=\"font-size: 18pt;\">\u6cd5\u5e03\u745e\u6c0f\u75c7 (Fabry Disease)<\/span><\/strong><\/h3>\n<p class=\"ti_0 p_ul\"><strong><span style=\"font-size: 14pt;\">\u4f55\u8b02\u6cd5\u5e03\u745e\u6c0f\u75c7?<\/span><\/strong><\/p>\n<p style=\"padding-left: 40px; text-align: justify;\">\u7531\u65bc\u8ca0\u8cac\u88fd\u9020\u03b1-\u534a\u4e73\u7cd6\u82f7\u9175\u7d20(\u03b1-galactosidase , \u03b1-GAL)\u9175\u7d20\u7684\u57fa\u56e0\u7f3a\u9677\uff0c\u5c0e\u81f4\u4e00\u4e9b\u8102\u8cea\uff0c\u5c24\u5176\u662fglobotriaosylceramide (GL-3)\u7121\u6cd5\u88ab\u4ee3\u8b1d\uff0c\u5806\u7a4d\u5728\u5168\u8eab\u8a31\u591a\u7d30\u80de\u5167\u7684\u6eb6\u5c0f\u9ad4(lysosome)\u4e2d\u3002\u7531\u65bc\u672c\u75c5\u7684\u57fa\u56e0\u4f4d\u65bcX\u67d3\u8272\u9ad4\u4e0a\uff0c\u56e0\u6b64\u5c0d\u7537\u6027\u7684\u5f71\u97ff\u6703\u8f03\u5927\uff08\u56e0\u70ba\u7537\u6027\u53ea\u6709\u4e00\u500bX\u67d3\u8272\u9ad4\uff0c\u5973\u6027\u5247\u6709\u4e8c\u500bX\u67d3\u8272\u9ad4\uff09\u3002\u5728\u7f8e\u570b\u7d04\u6709\u56db\u842c\u5206\u4e4b\u4e00\u7684\u7537\u6027\u7f79\u60a3\u672c\u75c5\uff0c\u800c\u4e14\u662f\u4e0d\u5206\u7a2e\u65cf\u7684\u3002\u5973\u6027\u5e36\u539f\u8005\uff08\u4e00\u500bX\u67d3\u8272\u9ad4\u7f3a\u9677\uff0c\u800c\u53e6\u4e00\u500b\u5247\u6b63\u5e38\uff09\u6709\u6642\u53ef\u51fa\u73fe\u75be\u75c5\u7684\u67d0\u4e9b\u75c7\u72c0\uff0c\u4f46\u901a\u5e38\u8f03\u8f15\u5fae \u25e6<\/p>\n<p class=\"ti_0 p_ul\"><strong><span style=\"font-size: 14pt;\">\u6cd5\u5e03\u745e\u6c0f\u75c7\u6703\u6709\u4ec0\u9ebc\u75c7\u72c0?<\/span><\/strong><\/p>\n<p style=\"padding-left: 40px; text-align: justify;\">GL-3\u5806\u7a4d\u65bc\u8840\u7ba1\u5167\u76ae\u7d30\u80de\u4e0a\u6642\uff0c\u5bb9\u6613\u50b7\u5bb3\u5230\u9031\u908a\u795e\u7d93\uff0c\u6b64\u5916\u9084\u6703\u9020\u6210\u5fc3\u81df\u3001\u814e\u81df\u3001\u8166\u8840\u7ba1\u75c5\u8b8a\u3002\u6cd5\u5e03\u745e\u6c0f\u75c7\u9020\u6210\u4e4b\u5468\u908a\u795e\u7d93\u75c5\u8b8a\uff0c\u6703\u5f15\u8d77\u56db\u80a2\u5287\u70c8\u75bc\u75db\uff0c\u70ba\u6b64\u60a3\u8005\u9084\u66fe\u81ea\u4ee5\u70ba\u662f\u60a3\u4e86\u300c\u75db\u75db\u75c5\u300d\u3002\u50b3\u7d71\u81e8\u5e8a\u75c7\u72c0\uff0c\u591a\u5728\u5152\u7ae5\u6216\u9752\u5c11\u5e74\u6642\u671f\u51fa\u73fe\uff0c\u8173\u90e8\u6216\u624b\u90e8\u6709\u9593\u6b47\u6027\u75bc\u75db\u6216\u611f\u89ba\u7570\u5e38\uff0c\u75c5\u4eba\u6709\u6642\u6703\u63cf\u8ff0\u75db\u8d77\u4f86\u50cf\u662f\u300c\u71d2\u707c\u300d\u7684\u611f\u89ba\uff0c\u6301\u7e8c\u6642\u9593\u5f9e\u6578\u5206\u9418\u5230\u5e7e\u5929\u90fd\u6709\uff0c\u6709\u6642\u6703\u91cd\u8907\u6027\u51fa\u73fe\uff0c\u901a\u5e38\u5728\u6eab\u5ea6\u8f03\u9ad8\u6216\u5b63\u7bc0\u8b8a\u5316\u6642\u75c5\u767c\uff0c\u4e5f\u6709\u8a31\u591a\u4eba\u662f\u5728\u904b\u52d5\u6216\u4e0a\u5b8c\u9ad4\u80b2\u8ab2\u5f8c\u56b4\u91cd\u75bc\u75db\u3002<\/p>\n<p class=\"ti_0 p_ul\"><strong><span style=\"font-size: 14pt;\">\u6cd5\u5e03\u745e\u6c0f\u75c7\u7684\u767c\u751f\u7387\u70ba\u4f55?<\/span><\/strong><\/p>\n<p style=\"padding-left: 40px;\">\u9810\u4f30\u67091\/40,000\u7684\u7537\u6027\u7f79\u60a3\u6b64\u75c7\uff0c\u800c\u4e14\u7121\u7a2e\u65cf\u6027\u5dee\u7570\uff1b\u5973\u6027\u5e36\u56e0\u8005\u4e5f\u53ef\u80fd\u767c\u75c5\u3002<\/p>\n<p class=\"ti_0 p_ul\"><strong><span style=\"font-size: 14pt;\">\u65b0\u751f\u5152\u7be9\u6aa2\u901a\u77e5\u7570\u5e38(\u7591\u967d\u6027)\u4e4b\u8655\u7406?<\/span><\/strong><\/p>\n<ul>\n<li style=\"text-align: justify;\">\u65b0\u751f\u5152\u7be9\u6aa2\u662f\u65e9\u671f\u8a3a\u65b7\u6700\u597d\u7684\u65b9\u6cd5\u3002\u65bc\u5bf6\u5bf6\u51fa\u751f\u56db\u5341\u516b\u5c0f\u6642\u9935\u5976\u6eff24\u5c0f\u6642\u5f8c\uff0c\u5f9e\u8173\u8ddf\u63a1\u53d6\u5c11\u91cf\u7684\u8840\u6db2\uff0c\u6e2c\u5b9a\u6ffe\u7d19\u8840\u7247\u6aa2\u9ad4\u4e2d\u03b1-GAL\u9175\u7d20\u6d3b\u6027\u7684\u542b\u91cf\uff0c\u7576\u6fc3\u5ea6\u4f4e\u65bc\u6b63\u5e38\u503c\uff0c\u63a5\u7372\u901a\u77e5\u5f8c\u8acb\u5118\u901f\u914d\u5408\u91ab\u7642\u4eba\u54e1\u6307\u793a\u56de\u8a3a\uff0c\u5982\u5b30\u5152\u6709\u7279\u6b8a\u75c7\u72c0\u7522\u751f\u7acb\u5373\u8207\u65b0\u751f\u5152\u7be9\u6aa2\u4e2d\u5fc3\u6216\u7576\u5730\u6240\u5c6c\u8f49\u4ecb\u91ab\u9662\u806f\u7d61\uff0c\u5c0b\u6c42\u6b63\u78ba\u91ab\u7642\u652f\u63f4\u3002<\/li>\n<li style=\"text-align: justify;\">\u901a\u5e38\u6cd5\u5e03\u745e\u6c0f\u75c7\u4e26\u4e0d\u6703\u7acb\u5373\u767c\u75c5\uff0c\u7be9\u6aa2\u78ba\u8a8d\u5f8c\u7236\u6bcd\u89aa\u4e26\u4e0d\u9700\u8981\u614c\u5f35\uff0c\u53ea\u8981\u6ce8\u610f\u5c0f\u5b69\u672a\u4f86\u662f\u5426\u6709\u51fa\u73fe\u8173\u90e8\u6216\u624b\u90e8\u7684\u75bc\u75db\u3001\u51fa\u6c57\u80fd\u529b\u964d\u4f4e\u6216\u8840\u7ba1\u89d2\u8cea\u7624\u7b49\u75c7\u72c0\uff0c\u4e26\u4e14\u5b9a\u671f\u4f5c\u5c3f\u6db2\u53ca\u814e\u529f\u80fd\u6aa2\u67e5\u3002\u6709\u75c7\u72c0\u6642\u518d\u958b\u59cb\u6cbb\u7642\u5c31\u53ef\u4ee5\u3002<\/li>\n<\/ul>\n<p class=\"ti_0 p_ul\"><strong><span style=\"font-size: 14pt;\">\u5982\u4f55\u78ba\u8a8d\u8a3a\u65b7\u662f\u5426\u60a3\u6709\u6cd5\u5e03\u745e\u6c0f\u75c7?<\/span><\/strong><\/p>\n<ul>\n<li>\u5bb6\u65cf\u53f2\u53ca\u5bb6\u65cf\u5206\u6790<\/li>\n<li>\u5b30\u5152\u53ca\u7236\u6bcd\u89aa\u4e4b\u8840\u7403\u53ca\u8840\u6f3f\u03b1-GAL\u9175\u7d20\u6d3b\u6027<\/li>\n<li>\u5b30\u5152\u5c3f\u6db2GL-3\u5206\u6790<\/li>\n<li>\u5b30\u5152\u53ca\u7236\u6bcd\u89aa\u4e4b\u57fa\u56e0\u5206\u6790<\/li>\n<\/ul>\n<p class=\"ti_0 p_ul\"><strong><span style=\"font-size: 14pt;\">\u5982\u4f55\u6cbb\u7642\u6cd5\u5e03\u745e\u6c0f\u75c7?<\/span><\/strong><\/p>\n<p style=\"padding-left: 40px;\">\u76ee\u524d\u6cbb\u7642\u53ef\u5206\u70ba\u75c7\u72c0\u6cbb\u7642\u53ca\u9175\u7d20\u66ff\u4ee3\u7642\u6cd5(Enzyme Replacement Therapy) \u76ee\u524d\u5df2\u6709\u5ee0\u5546\u88fd\u9020\u51fa\u5408\u6210\u7684\u9175\u7d20\u53ef\u4ee5\u4f7f\u7528,\u5065\u4fdd\u4e5f\u4ee5\u7d66\u4ed8\u3002\u795e\u7d93\u75db\u53ef\u900f\u904e\u5404\u7a2e\u85e5\u7269\u4f86\u7de9\u89e3\uff0c\u814e\u8870\u7aed\u8981\u9760\u8840\u6db2\u900f\u6790\u3002<\/p>\n\n\n\n<h3><strong><span style=\"font-size: 18pt;\">\u9ad8\u96ea\u6c0f\u75c7 (Gaucher&#8217;s Disease)<\/span><\/strong><\/h3>\n<p class=\"ti_0 p_ul\"><strong><span style=\"font-size: 14pt;\">\u4f55\u8b02\u9ad8\u96ea\u6c0f\u75c7?<\/span><\/strong><\/p>\n<p style=\"padding-left: 40px; text-align: justify;\">\u9ad8\u96ea\u6c0f\u75c7\u662f\u4e00\u7a2e\u6eb6\u5c0f\u9ad4\u809d\u91a3\u5132\u7a4d\u75c7\uff0c\u5728\u4e00\u822c\u60c5\u6cc1\u4e0b\uff0c\u6eb6\u5c0f\u9ad4\u53ef\u4ee5\u6d88\u5316\u3001\u6eb6\u89e3\u9ad4\u5167\u5ee2\u7269\uff0c\u4f46\u662f\u9ad8\u96ea\u6c0f\u75c7\u60a3\u8005\u56e0\u70ba\u6eb6\u5c0f\u9ad4\u7f3a\u4e4f\u4e00\u7a2e\u8461\u8404\u7cd6\u8166\u82f7\u8102\u9175\u7d20(glucocerebrosidase)\uff0c\u4f7f\u5f97\u9032\u5165\u6eb6\u5c0f\u9ad4\u7684\u8461\u8404\u7cd6\u8166\u82f7\u8102(glucosylceramide)\u7121\u6cd5\u88ab\u5206\u89e3\u800c\u6301\u7e8c\u5806\u7a4d\uff0c\u9010\u6f38\u5806\u7a4d\u5728\u9aa8\u9ad3\u7d30\u80de\u53ca\u5404\u5668\u5b98\u9032\u800c\u5f71\u97ff\u5230\u5668\u5b98\u7684\u529f\u80fd\uff0c\u6709\u7684\u75c5\u4eba\u6703\u5806\u7a4d\u5728\u8166\u90e8\u6216\u795e\u7d93\u7cfb\u7d71\uff0c\u60a3\u8005\u4e00\u822c\u6703\u6709\u809d\u813e\u816b\u5927\u3001\u8ca7\u8840\u3001\u51fa\u8840\u50be\u5411\u53ca\u9aa8\u9abc\u767c\u80b2\u969c\u7919\u7b49\u75c7\u72c0\u3002<\/p>\n<p class=\"ti_0 p_ul\"><strong><span style=\"font-size: 14pt;\">\u9ad8\u96ea\u6c0f\u75c7\u60a3\u8005\u75c7\u72c0<\/span><\/strong><\/p>\n<p style=\"padding-left: 40px; text-align: justify;\">\u53ef\u5206\u70ba\u4e09\u578b \u6700\u898b\u662f\u7b2c\u4e00\u578b \u3002\u7b2c\u4e00\u578b\u75c7\u72c0\u6709\u809d\u813e\u816b\u5927\u3001\u809d\u81df\u816b\u5927\u3001\u9aa8\u9abc\u8b8a\u5f62\u3001\u8ca7\u8840\u3001\u8840\u5c0f\u677f\u7f3a\u4e4f\u3001\u51fa\u8840\u50be\u5411\uff0c\u4f46\u4e0d\u6703\u6ce2\u53ca\u4e2d\u6a1e\u795e\u7d93\u7cfb\u7d71\u3002 \u7b2c\u4e8c\u578b\u53c8\u7a31\u6025\u6027\u795e\u7d93\u5143\u75c5\u8b8a\u578b\uff0c\u5927\u591a\u5728\u5b30\u5152\u671f\u6703\u51fa\u73fe\u75c7\u72c0\uff0c\u75c5\u7a0b\u8fc5\u901f\u60e1\u5316\u800c\u592d\u6298\u3002\u7b2c\u4e09\u578b\u53c8\u7a31\u6162\u6027\u795e\u7d93\u5143\u75c5\u8b8a\u578b\uff0c\u7d04\u5728\u5169\u6b72\u4e4b\u5f8c\u767c\u75c5\uff0c\u75c7\u72c0\u4ee5\u813e\u81df\u816b\u5927\u53ca\u808c\u9663\u6523\u6027\u62bd\u7b4b\u70ba\u4e3b\uff0c\u4e4b\u5f8c\u667a\u80fd\u6162\u6162\u9000\u5316\uff0c\u4e26\u6162\u6162\u5931\u53bb\u904b\u52d5\u80fd\u529b\uff0c\u6709\u6642\u5408\u4f75\u9aa8\u9abc\u8207\u80ba\u90e8\u4fb5\u72af\u3002<\/p>\n<p class=\"ti_0 p_ul\"><strong><span style=\"font-size: 14pt;\">\u9ad8\u96ea\u6c0f\u75c7\u7684\u767c\u751f\u7387\u70ba\u4f55?<\/span><\/strong><\/p>\n<p style=\"padding-left: 40px; text-align: justify;\">\u9ad8\u96ea\u6c0f\u75c7\u7684\u767c\u751f\u7387\u5728\u53f0\u7063\u4e0d\u660e\uff1b\u4f30\u8a08\u5168\u7403\u6709\u4e00\u842c\u540d\u7684\u60a3\u8005\u3002\u5168\u4e16\u754c\u767c\u751f\u7387 \uff0c\u7b2c\u4e00\u578b\u70ba\u56db\u842c\u5230\u516d\u842c\u5206\u4e4b\u4e00\u3001\u7b2c\u4e8c\u578b\u70ba\u5341\u842c\u5206\u4e4b\u4e00\u3001\u7b2c\u4e09\u578b\u70ba\u4e94\u842c\u5230\u5341\u842c\u5206\u4e4b\u4e00<\/p>\n<p class=\"ti_0 p_ul\"><strong><span style=\"font-size: 14pt;\">\u65b0\u751f\u5152\u7be9\u6aa2\u901a\u77e5\u7570\u5e38(\u7591\u967d\u6027)\u4e4b\u8655\u7406?<\/span><\/strong><\/p>\n<p style=\"padding-left: 40px; text-align: justify;\">\u65b0\u751f\u5152\u51fa\u751f\u6eff\uff14\uff18\u5c0f\u6642\u5f8c\uff0c\u900f\u904e\u65b0\u751f\u5152\u7be9\u6aa2\uff0c\u6e2c\u5b9a\u5bf6\u5bf6\u8840\u6db2\u4e2d\u8461\u8404\u7cd6\u8166\u82f7\u8102\u9175\u7d20\u6d3b\u6027\uff0c\u53ef\u4ee5\u6aa2\u6e2c\u51fa\u9ad8\u96ea\u6c0f\u75c7\u7684\u60a3\u8005\u3002\u7576\u8840\u7247\u542b\u91cf\u4f4e\u65bc\u6b63\u5e38\u503c\uff0c\u63a5\u7372\u901a\u77e5\u5f8c\u8acb\u5118\u901f\u914d\u5408\u91ab\u7642\u4eba\u54e1\u6307\u793a\u56de\u8a3a\uff0c\u5982\u5b30\u5152\u6709\u7279\u6b8a\u75c7\u72c0\u7522\u751f\u7acb\u5373\u8207\u65b0\u751f\u5152\u7be9\u6aa2\u4e2d\u5fc3\u6216\u7576\u5730\u6240\u5c6c\u8f49\u4ecb\u91ab\u9662\u806f\u7d61\uff0c\u5c0b\u6c42\u6b63\u78ba\u91ab\u7642\u652f\u63f4\u3002 \u500b\u6848\u5728\u525b\u51fa\u751f\u6642\u901a\u5e38\u6c92\u6709\u660e\u986f\u7684\u75c7\u72c0\uff0c\u4f46\u662f\u7b49\u5230\u75c7\u72c0\u660e\u986f\u5f8c\uff0c\u53ef\u80fd\u5df2\u7d93\u932f\u904e\u4e86\u6cbb\u7642\u7684\u6700\u4f73\u6642\u6a5f\u3002\u900f\u904e\u65e9\u671f\u7be9\u6aa2\uff0c\u7d66\u4e88\u65b0\u751f\u5152\u53ca\u65e9\u4e14\u9069\u5207\u7684\u6cbb\u7642\uff0c\u5c31\u662f\u7be9\u6aa2\u7684\u76ee\u7684\u3002<\/p>\n<p class=\"ti_0 p_ul\"><strong><span style=\"font-size: 14pt;\">\u5982\u4f55\u78ba\u8a8d\u8a3a\u65b7\u662f\u5426\u60a3\u6709\u9ad8\u96ea\u6c0f\u75c7?<\/span><\/strong><\/p>\n<ul>\n<li>\u5bb6\u65cf\u53f2\u53ca\u5bb6\u65cf\u5206\u6790<\/li>\n<li>\u5b30\u5152\u53ca\u7236\u6bcd\u89aa\u4e4b\u8840\u7403\u8461\u8404\u7cd6\u8166\u7518\u8102\u9175\u7d20\u6d3b\u6027\u9175\u7d20\u6d3b\u6027<\/li>\n<li>\u5b30\u5152\u8840\u7403\uff08CBC\/DC\uff09\u5206\u6790<\/li>\n<li>\u5b30\u5152\u8840\u6db2chitotriosidase\u5206\u6790<\/li>\n<li>\u5b30\u5152\u8179\u90e8\u8d85\u97f3\u6ce2\u5206\u6790<\/li>\n<li>\u5b30\u5152\u53ca\u7236\u6bcd\u89aa\u4e4b\u57fa\u56e0\u5206\u6790<\/li>\n<\/ul>\n<p class=\"ti_0 p_ul\"><strong><span style=\"font-size: 14pt;\">\u5982\u4f55\u6cbb\u7642\u9ad8\u96ea\u6c0f\u75c7?<\/span><\/strong><\/p>\n<p style=\"text-align: justify; padding-left: 40px;\">\u9ad8\u96ea\u6c0f\u75c7\u4e4b\u6cbb\u7642\uff0c\u53ef\u7528\u9aa8\u9ad3\u79fb\u690d\u6cbb\u7642\u6216\u4ee5\u57fa\u56e0\u5de5\u7a0b\u7684\u6280\u8853\uff0c\u88fd\u9020\u60a3\u8005\u6240\u7f3a\u4e4f\u7684\u9175\u7d20\uff0c\u4ee5\u6ce8\u5c04\u7684\u65b9\u5f0f\u88dc\u5145\u60a3\u8005\u9ad4\u5167\u7684\u7f3a\u4e4f\uff0c\u77ef\u6b63\u5176\u75be\u75c5\u3002\u4f46\u662f\u5982\u679c\u958b\u59cb\u6cbb\u7642\u7684\u6642\u9593\u592a\u665a\uff0c\u5c31\u6c92\u6709\u8fa6\u6cd5\u9054\u5230\u6cbb\u7642\u7684\u6548\u679c\u3002<\/p>\n\n\n\n<h3><span style=\"font-size: 18pt;\"><strong>\u9ecf\u591a\u91a3\u75c7 (Mucopolysaccharidosis, MPS)<\/strong><\/span><\/h3>\n<p class=\"ti_0 p_ul\"><span style=\"font-size: 14pt;\"><strong>\u4f55\u8b02\u9ecf\u591a\u91a3\u75c7<\/strong>?<\/span><\/p>\n<p style=\"padding-left: 40px; text-align: justify;\">\u9ecf\u591a\u91a3\u662f\u69cb\u6210\u4eba\u9ad4\u9aa8\u9abc\u3001\u8840\u7ba1\u3001\u76ae\u819a\u3001\u6bdb\u9aee\u3001\u773c\u89d2\u819c\u7b49\u91cd\u8981\u7d44\u7e54\u7684\u4e3b\u8981\u6210\u5206\u3002\u9ecf\u591a\u91a3\u75c7\u662f\u4e00\u7a2e\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u75be\u75c5\uff0c\u5176\u81f4\u75c5\u7684\u539f\u56e0\u662f\u56e0\u70ba\u75c5\u60a3\u8eab\u9ad4\u5167\u7f3a\u4e4f\u80fd\u5c07\u9ecf\u591a\u91a3\u5206\u89e3\u7684\u67d0\u4e00\u7a2e\u9175\u7d20\uff0c\u5c0e\u81f4\u9ecf\u591a\u91a3\u5206\u5b50\u9010\u6f38\u5806\u7a4d\u5728\u7d30\u80de\u4e2d\u7121\u6cd5\u4ee3\u8b1d\uff0c\u9032\u800c\u50b7\u5bb3\u5230\u8a31\u591a\u5668\u5b98\u7684\u529f\u80fd\u3002<\/p>\n<p style=\"padding-left: 40px; text-align: justify;\">\u9ecf\u591a\u91a3\u75c7\u76ee\u524d\u53ef\u5206\u70ba\u4e03\u7a2e\u985e\u578b\uff0c\u7531\u65bc\u81f4\u75c5\u57fa\u56e0\u4e0d\u540c\uff0c\u56e0\u6b64\u75be\u75c5\u56b4\u91cd\u7a0b\u5ea6\u8207\u9810\u5f8c\u4ea6\u4e0d\u76f8\u540c\u3002\u6b64\u75be\u75c5\u7684\u907a\u50b3\u6a21\u5f0f\u5927\u591a\u70ba\u9ad4\u67d3\u8272\u9ad4\u96b1\u6027\u907a\u50b3\uff0c\u53ea\u6709\u9ecf\u591a\u91a3\u75c7\u7b2c\u4e8c\u578b\u5c6c\u65bc\u6027\u9023\u96b1\u6027\u907a\u50b3\u3002\u9ecf\u591a\u91a3\u75c7\u7b2c\u4e8c\u578b\u662f\u53f0\u7063\u53ca\u4e9e\u6d32\u5730\u5340\u6700\u5e38\u898b\u7684\u985e\u578b\uff0c\u5176\u81f4\u75c5\u7684\u57fa\u56e0\u4f4d\u65bcX\u67d3\u8272\u9ad4\u4e0a\uff0c\u56e0\u6b64\u672c\u578b\u7684\u75c5\u60a3\u901a\u5e38\u70ba\u7537\u6027\uff0c\u5c0d\u5973\u6027\u800c\u8a00\u8f03\u7121\u5f71\u97ff\u3002<\/p>\n<p><strong><span style=\"font-size: 14pt;\">\u9ecf\u591a\u91a3\u75c7\u6703\u6709\u751a\u9ebc\u75c7\u72c0?<\/span><\/strong><\/p>\n<p style=\"padding-left: 40px; text-align: justify;\">\u91a3\u75c7\u75c5\u60a3\uff0c\u751a\u81f3\u6709\u667a\u80fd\u969c\u7919\u6216\u904e\u52d5\u7684\u50be\u5411\u3002\u4ee5\u4e0a\u75c7\u72c0\u6703\u56e0\u9175\u7d20\u6d3b\u6027\u7f79\u60a3\u9ecf\u591a\u91a3\u75c7\u7684\u5b69\u7ae5\uff0c\u5927\u591a\u6578\u5728\u51fa\u751f\u6642\u4e26\u7121\u660e\u986f\u7570\u72c0\uff0c\u4f46\u96a8\u8457\u9ecf\u591a\u91a3\u7684\u65e5\u6f38\u7d2f\u7a4d\uff0c\u75c5\u60a3\u7684\u76ae\u819a\u3001\u9aa8\u9abc\u3001\u95dc\u7bc0\u3001\u89d2\u819c\u3001\u6c23\u7ba1\u8207\u5927\u8166\u7b49\u90e8\u4f4d\u958b\u59cb\u51fa\u73fe\u7570\u5e38\uff0c\u4e26\u9010\u6f38\u8868\u73fe\u7279\u6b8a\u7684\u5916\u89c0\u8207\u5404\u7a2e\u75c7\u72c0\u3002\u5916\u89c0\u4e0a\u7684\u6539\u8b8a\u5305\u62ec:\u6fc3\u7709\u3001\u9f3b\u6a11\u584c\u9677\u3001\u5634\u5507\u539a\u5be6\u3001\u81c9\u90e8\u591a\u6bdb\u3001\u982d\u9871\u8b8a\u5927\u3001\u722a\u72c0\u624b\u3001\u77ed\u4e0b\u80a2\u3001\u819d\u5167\u7ffb\u3001\u8eab\u6750\u77ee\u5c0f\u7b49\uff1b\u5176\u4ed6\u8eab\u9ad4\u75c7\u72c0\u5c1a\u6709\uff1a\u95dc\u7bc0\u8b8a\u5f62\u50f5\u786c\u3001\u809d\u813e\u816b\u5927\u3001\u809a\u81cd\u6216\u8179\u80a1\u6e9d\u759d\u6c23\u3001\u773c\u89d2\u819c\u6df7\u6fc1\u3002\u6709\u4e9b\u985e\u578b\u7684\u9ecf\u591a\u7f3a\u4e4f\u7684\u7a0b\u5ea6\u4e0d\u540c\u800c\u6709\u6240\u5dee\u7570\uff0c\u4f46\u591a\u534a\u6703\u96a8\u8457\u5e74\u9f61\u589e\u52a0\u800c\u9010\u6f38\u60e1\u5316\u3002<\/p>\n<p class=\"ti_0 p_ul\"><strong><span style=\"font-size: 14pt;\">\u9ecf\u591a\u91a3\u75c7\u767c\u751f\u7387\u70ba\u4f55?<\/span><\/strong><\/p>\n<p style=\"padding-left: 40px;\">\u5728\u53f0\u7063\u9ecf\u591a\u91a3\u75c7\u5404\u578b\u7684\u767c\u751f\u7387\u7d04\u75311\/50,000-1\/100,000\u4e0d\u7b49\u3002<\/p>\n<p class=\"ti_0 p_ul\"><span style=\"font-size: 14pt;\"><strong>\u65b0\u751f\u5152\u7be9\u6aa2\u901a\u77e5\u7570\u5e38(\u7591\u967d\u6027)\u4e4b\u8655\u7406<\/strong>?<\/span><\/p>\n<p style=\"padding-left: 40px; text-align: justify;\">\u65b0\u751f\u5152\u7be9\u6aa2\u662f\u65e9\u671f\u5075\u6e2c\u9ecf\u591a\u91a3\u75c7\u7684\u826f\u597d\u65b9\u6cd5\uff0c\u5bf6\u5bf6\u51fa\u751f48\u5c0f\u6642\u5f8c\uff0c\u91ab\u9662\u6703\u5f9e\u8173\u8ddf\u8655\u63a1\u53d6\u5c11\u91cf\u7684\u8840\u6db2\uff0c\u9032\u884c\u65b0\u751f\u5152\u7be9\u6aa2\uff0c\u6e2c\u5b9a\u9ad4\u5167\u5404\u9ecf\u591a\u91a3\u75c7\u7684\u9175\u7d20(\u9ecf\u591a\u91a3\u75c7\u7b2c\u4e00\u578b\u6aa2\u6e2c\u9175\u7d20-IDUA\uff0c\u9ecf\u591a\u91a3\u75c7\u7b2c\u4e8c\u578b\u6aa2\u6e2c\u9175\u7d20-IDS\uff0c\u9ecf\u591a\u91a3\u75c7\u7b2c\u516d\u578b\u6aa2\u6e2c\u9175\u7d20- ARSB)\u3002\u7576\u65b0\u751f\u5152\u9ad4\u5167\u6eb6\u5c0f\u9ad4\u7684\u9175\u7d20\u4f4e\u65bc\u6b63\u5e38\u503c\uff0c\u800c\u63a5\u7372\u63a1\u96c6\u9662\u6240\u901a\u77e5\u6642\uff0c\u8acb\u5118\u901f\u914d\u5408\u91ab\u7642\u4eba\u54e1\u6307\u793a\uff0c\u9032\u884c\u8907\u6aa2\u3002\u82e5\u65b0\u751f\u5152\u6709\u76f8\u95dc\u81e8\u5e8a\u75c7\u72c0\u6642\uff0c\u8acb\u7acb\u5373\u8207\u65b0\u751f\u5152\u7be9\u6aa2\u4e2d\u5fc3\u6216\u7576\u5730\u6240\u5c6c\u8f49\u4ecb\u91ab\u9662\u91ab\u5e2b\u806f\u7d61\uff0c\u5c0b\u6c42\u5373\u6642\u7684\u91ab\u7642\u5354\u52a9\u3002<\/p>\n<p class=\"ti_0 p_ul\"><span style=\"font-size: 14pt;\"><strong>\u5982\u4f55\u78ba\u8a8d\u8a3a\u65b7\u662f\u5426\u60a3\u6709\u9ecf\u591a\u91a3\u75c7<\/strong>?<\/span><\/p>\n<ul>\n<li>\u81e8\u5e8a\u75c7\u72c0\u8a55\u4f30<\/li>\n<li>\u5bb6\u65cf\u53f2\u53ca\u5bb6\u65cf\u5206\u6790<\/li>\n<li>\u751f\u5316\u6aa2\u9a57\u5206\u6790<\/li>\n<li>\u8840\u6db2\u9175\u7d20\u53ca\u4ee3\u8b1d\u7269\u5206\u6790<\/li>\n<li>\u5b30\u5152\u53ca\u7236\u6bcd\u89aa\u4e4b\u57fa\u56e0\u5206\u6790<\/li>\n<\/ul>\n<p class=\"ti_0 p_ul\"><span style=\"font-size: 14pt;\"><strong>\u5982\u4f55\u6cbb\u7642\u9ecf\u591a\u91a3\u75c7<\/strong>?<\/span><\/p>\n<ul>\n<li>\u300c\u75c7\u72c0\u6cbb\u7642\u300d<\/li>\n<li>\u300c\u5e79\u7d30\u80de\u79fb\u690d\u300d<\/li>\n<li>\u300c\u9175\u7d20\u66ff\u4ee3\u7642\u6cd5\u300d\uff08Enzyme Replacement Therapy\uff09<\/li>\n<\/ul>\n<p style=\"padding-left: 40px; text-align: justify;\">\u5176\u4e2d\uff0c\u300c\u9175\u7d20\u66ff\u4ee3\u7642\u6cd5\u300d\u76ee\u524d\u9069\u7528\u65bc\uff1a\u9f90\u8c9d\u6c0f\u75c7\u3001\u6cd5\u5e03\u745e\u6c0f\u75c7\u3001\u9ad8\u96ea\u6c0f\u75c7\u3001\u9ecf\u591a\u91a3\u75c7\u7b2c\u4e00\u578b\u3001\u7b2c\u4e8c\u578b\u8207\u7b2c\u516d\u578b\u4e4b\u75c5\u60a3\uff0c\u76ee\u524d\u9019\u4e9b\u85e5\u7269\u5df2\u5217\u70ba\u885b\u751f\u7f72\u516c\u544a\u4e4b\u7f55\u898b\u75be\u75c5\u85e5\u7269\uff0c\u4e26\u7372\u5f97\u5065\u4fdd\u7d66\u4ed8\uff0c\u4e5f\u56e0\u70ba\u6709\u85e5\u7269\u53ef\u4ee5\u6cbb\u7642\uff0c\u76ee\u524d\u6eb6\u5c0f\u9ad4\u5132\u7a4d\u75c7\u4e4b\u7be9\u6aa2\u4ea6\u4e3b\u8981\u91dd\u5c0d\u9019\u5e7e\u7a2e\u578b\u5225\u4e4b\u75be\u75c5\u3002\u81e8\u5e8a\u4e0a\u7684\u5be6\u969b\u6cbb\u7642\u65b9\u5f0f\uff0c\u6703\u56e0\u9175\u7d20\u7f3a\u640d\u7a0b\u5ea6\u4e0d\u540c\uff0c\u5728\u75c7\u72c0\u8207\u75be\u75c5\u56b4\u91cd\u5ea6\u4e0a\u4e5f\u6709\u6709\u6240\u5dee\u7570\uff0c\u4ecd\u61c9\u8996\u75c5\u60a3\u76ee\u524d\u75c5\u60c5\u8207\u5668\u5b98\u60e1\u5316\u7a0b\u5ea6\uff0c\u4f86\u64ec\u5b9a\u500b\u5225\u6cbb\u7642\u8a55\u4f30\u8a08\u756b\u3002\u56e0\u6b64\uff0c\u65b0\u751f\u5152\u7be9\u6aa2\u7684\u76ee\u7684\uff0c\u6b63\u662f\u5e0c\u671b\u80fd\u900f\u904e\u65e9\u671f\u767c\u73fe\u9032\u800c\u65e9\u671f\u6cbb\u7642\uff0c\u4ee5\u964d\u4f4e\u75c5\u60a3\u51fa\u73fe\u4e0d\u53ef\u56de\u5fa9\u4e4b\u4f75\u767c\u75c7\u3002<\/p>\n","protected":false},"excerpt":{"rendered":"<p>\u9f90\u8c9d\u6c0f\u75c7 (Pompe Disease) \u4f55\u8b02\u9f90\u8c9d\u6c0f\u75c7? \u9f90\u8c9d\u6c0f\u75c7\u662f\u4e00\u7a2e\u6eb6\u5c0f\u9ad4\u809d\u91a3\u5132\u7a4d\u75c7\uff0c\u5e38\u88ab\u7a31\u70ba\u809d\u91a3\u5132\u7a4d\u75c7\u7b2c &#8230; 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