{"id":574,"date":"2019-09-03T12:52:30","date_gmt":"2019-09-03T04:52:30","guid":{"rendered":"http:\/\/u5.cfoh.org.tw\/?page_id=574"},"modified":"2024-11-25T14:59:10","modified_gmt":"2024-11-25T06:59:10","slug":"pcd","status":"publish","type":"page","link":"https:\/\/www.cfoh.org.tw\/index.php\/item\/pcd\/","title":{"rendered":"\u539f\u767c\u6027\u8089\u9e7c\u7f3a\u4e4f\u75c7 (PCD)"},"content":{"rendered":"\n<p style=\"text-align: justify;\"><span style=\"font-size: 14pt;\"><strong>\u4ec0\u9ebc\u662f\u539f\u767c\u6027\u8089\u9e7c\u7f3a\u4e4f\u75c7\uff1f<\/strong><\/span><\/p>\n<p style=\"text-align: justify; padding-left: 40px;\">\u4eba\u9ad4\u7531\u98df\u7269\u4e2d\u651d\u53d6\u651d\u53d6\u8089\u9e7c (carnitine)\u5f8c\uff0c\u7d30\u80de\u5229\u7528\u5b83\u5c07\u8102\u80aa\u9178\u904b\u9001\u5230\u7c92\u817a\u9ad4\u9032\u884c\u6c27\u5316\u4f86\u88fd\u9020\u80fd\u91cf\uff0c\u63d0\u4f9b\u8eab\u9ad4\u6240\u9700\uff0c\u5c24\u5176\u662f\u5728\u9577\u6642\u9593\u672a\u9032\u98df\u5f8c (\u4f8b\u5982\u5c11\u5403\u4e00\u9910\u3001\u9694\u591c\u7761\u7720\u5f8c)\uff0c\u9ad4\u5167\u8461\u8404\u7cd6\u4e0d\u8db3\uff0c\u9700\u8981\u9760\u8102\u80aa\u7522\u751f\u80fd\u91cf\u4f86\u7dad\u6301\u8eab\u9ad4\u904b\u4f5c\uff0c\u82e5\u8102\u80aa\u9178\u6c27\u5316\u7684\u4efb\u4f55\u4e00\u500b\u74b0\u7bc0\u51fa\u73fe\u554f\u984c\uff0c\u5c31\u53ef\u80fd\u5f15\u767c\u76f8\u95dc\u75c7\u72c0\u3002\u539f\u767c\u6027\u8089\u9e7c\u7f3a\u4e4f\u75c7\u5373\u5c6c\u8102\u80aa\u9178\u6c27\u5316\u7570\u5e38\u75be\u75c5\uff0c\u60a3\u8005\u56e0\u7f3a\u4e4f\u7d30\u80de\u819c\u4e0a\u7684\u8089\u9e7c\u904b\u8f38\u88dd\u7f6e OCTN2 (Sodiumion-dependent carnitine transporter)\uff0c\u5c0e\u81f4\u8089\u9e7c\u7531\u5c3f\u4e2d\u6d41\u5931\uff0c\u9020\u6210\u9ad4\u5167\u8089\u9e7c\u7f3a\u4e4f\u7121\u6cd5\u6709\u6548\u5229\u7528\u8102\u80aa\u9178\u4f86\u7522\u751f\u80fd\u91cf\uff0c\u53ef\u80fd\u5c0e\u81f4\u8166\u75c5\u8b8a\u3001\u5fc3\u808c\u75c5\u8b8a\u3001\u610f\u8b58\u7d0a\u4e82\u3001\u5614\u5410\u3001\u808c\u8089\u7121\u529b\u3001\u9ad8\u8840\u6c28\u53ca\u4f4e\u8840\u7cd6\u7b49\u75c7\u72c0\uff0c\u96d6\u7136\u56b4\u91cd\u7a0b\u5ea6\u56e0\u4eba\u800c\u7570\uff0c\u6709\u4e9b\u60a3\u8005\u751a\u81f3\u6c92\u6709\u660e\u986f\u75c7\u72c0\uff0c\u4f46\u4ecd\u5b58\u5728\u5fc3\u81df\u8870\u7aed\u3001\u809d\u75c5\u3001\u660f\u8ff7\u3001\u731d\u6b7b\u7b49\u98a8\u96aa\uff1b\u7576\u60a3\u8005\u8655\u5728\u808c\u9913\u6216\u751f\u75c5 (\u4f8b\u5982\u75c5\u6bd2\u611f\u67d3) \u7684\u72c0\u614b\u6642\uff0c\u66f4\u5bb9\u6613\u5f15\u767c\u76f8\u95dc\u75c5\u75c7\u3002<\/p>\n<p style=\"text-align: justify;\"><span style=\"font-size: 14pt;\"><strong>\u539f\u767c\u6027\u8089\u9e7c\u7f3a\u4e4f\u75c7<\/strong><strong>\u60a3\u8005\u75c7\u72c0<\/strong><\/span><\/p>\n<ul>\n<li style=\"text-align: justify;\"><strong>\u5b30\u5e7c\u5152\u671f\u4ee3\u8b1d\u6027\u4ee3\u511f\u529f\u80fd\u5931\u8abf<\/strong><strong> (metabolic decompensation)<\/strong>\uff1a\u901a\u5e38\u5728\u60a3\u80053\u6708\uff5e2\u6b72\u9593\u767c\u75c5\u3002\u5728\u75be\u75c5\u521d\u671f\uff0c\u75c7\u72c0\u5305\u62ec\u4f4e\u916e\u9178\u6027\u4f4e\u8840\u7cd6 (hypoketotic hypoglycemia)\u3001\u9935\u98df\u60c5\u6cc1\u5dee (poor feeding)\u3001\u8e81\u52d5\u4e0d\u5b89 (irritability)\uff0c\u60a3\u8005\u82e5\u56e0\u4f4e\u916e\u9178\u6027\u4f4e\u8840\u7cd6\u9020\u6210\u8166\u795e\u7d93\u75c5\u8b8a\uff0c\u6703\u51fa\u73fe\u55dc\u7761 (lethargy)\u3001\u610f\u8b58\u6df7\u4e82\uff0c\u751a\u81f3\u660f\u8ff7\uff0c\u82e5\u672a\u80fd\u53ca\u6642\u88dc\u5145\u8089\u9e7c\uff0c\u9020\u6210\u53cd\u8986\u6027\u8166\u795e\u7d93\u75c5\u8b8a\uff0c\u53ef\u80fd\u5c0e\u81f4\u60a3\u7ae5\u767c\u5c55\u9072\u7de9\uff0c\u53ca\u4e2d\u6a1e\u795e\u7d93\u7cfb\u7d71\u529f\u80fd\u5931\u5e38\u3002\u9577\u671f\u4f4e\u916e\u9178\u6027\u4f4e\u8840\u7cd6\u4e5f\u6703\u9032\u4e00\u6b65\u9020\u6210\u809d\u816b\u5927 (hepatomegaly)\u3001\u809d\u81df\u8102\u80aa\u8b8a\u6027 (steatosis)\u3001\u809d\u529f\u80fd\u6307\u6578\u4e0a\u5347\u3001\u809d\u8f49\u80fa\u9175\u7d20 (liver transaminases) \u5347\u9ad8\uff0c\u4ee5\u53ca\u56e0\u808c\u9913\u6216\u751f\u75c5 (\u4f8b\u5982\u4e0a\u547c\u5438\u9053\u611f\u67d3\u3001\u8178\u80c3\u708e) \u6240\u5f15\u767c\u7684\u9ad8\u8840\u6c28\u75c7 (hyperammonemia)\u3002<\/li>\n<li style=\"text-align: justify;\"><strong>\u5fc3\u808c\u53ca\u9aa8\u9abc\u808c\u75c5\u8b8a\uff1a<\/strong>\u901a\u5e38\u65bc2\uff5e4\u6b72\u9593\u767c\u75c5\u3002\u5728\u5fc3\u81df\u65b9\u9762\uff0c\u5e74\u9f61\u8f03\u5927\u7684\u60a3\u7ae5\u53ef\u80fd\u51fa\u73fe\u5fc3\u81df\u80a5\u5927\u7b49\u5fc3\u808c\u75c5\u8b8a\uff0c\u6709\u53ef\u80fd\u9032\u5c55\u6210\u5fc3\u8870\u7aed\uff1b\u5728\u808c\u8089\u65b9\u9762\uff0c\u5e38\u51fa\u73fe\u865b\u5f31\u3001\u808c\u8089\u5f35\u529b\u4f4e\u4e0b\u53ca\u808c\u8089\u7121\u529b\u7684\u60c5\u5f62\u3002\u6b64\u5916\uff0c\u8089\u9e7c\u7f3a\u4e4f\u4e5f\u6703\u9020\u6210\u8178\u80c3\u8815\u52d5\u4e0d\u826f\uff0c\u5f15\u8d77\u53cd\u8986\u6027\u7684\u8179\u75db\u8207\u8179\u7009\u3002\u8ca7\u8840\u53ca\u53cd\u8986\u6027\u611f\u67d3\u4e5f\u662f\u5e38\u898b\u75c7\u72c0\u3002\u82e5\u672a\u53ca\u65e9\u8a3a\u65b7\uff0c\u6b64\u75c7\u60a3\u8005\u7684\u7b2c\u4e00\u6b21\u767c\u75c5\u5c31\u53ef\u80fd\u6703\u5c0e\u81f4\u731d\u6b7b\u3002<\/li>\n<li style=\"text-align: justify;\"><strong>\u5973\u6027\u60a3\u8005<\/strong>\u61f7\u5b55\u5f8c\u9ad4\u529b\u8b8a\u5dee\u3001\u5fc3\u5f8b\u4e0d\u6574\u60e1\u5316\u3002<\/li>\n<li style=\"text-align: justify;\"><strong>\u6210\u5e74\u60a3\u8005<\/strong>\u5bb9\u6613\u611f\u5230\u75b2\u7d2f\u3002<\/li>\n<li style=\"text-align: justify;\"><strong>\u7121\u75c7\u72c0<\/strong>\uff1a\u6709\u4e9b\u60a3\u8005\u56e0\u70ba\u7121\u660e\u986f\u75c7\u72c0\u800c\u4e26\u4e0d\u77e5\u9053\u81ea\u5df1\u7f79\u60a3\u8089\u9e7c\u5438\u6536\u969c\u7919\uff0c\u901a\u5e38\u662f\u5728\u61f7\u5b55\u751f\u7522\u5f8c\uff0c\u900f\u904e\u65b0\u751f\u5152\u7be9\u6aa2\u767c\u73fe\u5bf6\u5bf6\u7684\u8089\u9e7c\u6fc3\u5ea6\u4f4e\uff0c\u5bf6\u5bf6\u7684\u7236\u6bcd\u6216\u624b\u8db3\u624d\u9032\u4e00\u6b65\u88ab\u8a3a\u65b7\u51fa\u4f86\u3002<\/li>\n<\/ul>\n<p style=\"text-align: justify;\"><span style=\"font-size: 14pt;\"><strong>\u767c\u751f\u7387\u53ca\u907a\u50b3\u6a21\u5f0f<\/strong><\/span><\/p>\n<p style=\"text-align: justify; padding-left: 40px;\">\u76ee\u524d\u539f\u767c\u6027\u8089\u9e7c\u7f3a\u4e4f\u75c7\u5df2\u5217\u70ba\u6211\u570b\u516c\u544a\u7f55\u898b\u75be\u75c5\uff0c\u53f0\u7063\u5730\u5340\u7684\u767c\u751f\u7387\u7d04\u70ba1\/30,000\u3002<\/p>\n<p style=\"text-align: justify; padding-left: 40px;\">\u6b64\u75be\u75c5\u907a\u50b3\u6a21\u5f0f\u70ba\u9ad4\u67d3\u8272\u9ad4\u96b1\u6027\u907a\u50b3\uff0c\u57fa\u56e0(<em>SLC22A5<\/em>\u57fa\u56e0) \u4f4d\u65bc\u4eba\u9ad4\u7b2c5\u5c0d\u67d3\u8272\u9ad4\u9577\u81c2(5q31.1)\u4e0a\u3002<em>SLC22A5<\/em>\u57fa\u56e0\u7f3a\u9677\uff0c\u9020\u6210\u60a3\u8005\u7f3a\u4e4f\u7d30\u80de\u819c\u4e0a\u7684\u8089\u9e7c\u904b\u8f38\u88dd\u7f6e OCTN2 (Sodiumion-dependent carnitine transporter)\uff0c\u5c0e\u81f4\u8089\u9e7c\u7531\u5c3f\u4e2d\u6d41\u5931\uff0c\u9020\u6210\u9ad4\u5167\u8089\u9e7c\u7f3a\u4e4f\u3002<\/p>\n<p style=\"text-align: justify; padding-left: 40px;\">\u6b64\u5916\uff0c\u53f0\u7063\u570b\u4eba\u5177\u6709\u4e00\u5e38\u898b\u7684\u7a81\u8b8a\u9ede\uff0c\u6b64\u7a81\u8b8a\u9ede\u4ea6\u597d\u767c\u65bc\u6771\u5357\u4e9e\u6cbf\u6d77\uff0c\u5982\u9999\u6e2f\u3001\u6fb3\u9580\u7b49\u5730\uff0c\u63a8\u6e2c\u6b64\u7a81\u8b8a\u53ef\u80fd\u5177\u6709\u300c\u65b9\u821f\u6548\u61c9 (founder effect)\u300d\uff0c\u5c0e\u81f4\u6b64\u75c7\u5728\u6771\u5357\u4e9e\u6cbf\u6d77\u5730\u5340\u5c45\u6c11\u7684\u767c\u751f\u7387\u8f03\u5176\u4ed6\u5730\u5340\u70ba\u9ad8\u3002<\/p>\n<p style=\"text-align: justify;\"><span style=\"font-size: 14pt;\"><strong>\u65b0\u751f\u5152\u7be9\u6aa2\u7591\u967d\u6027\u4e4b\u8655\u7406<\/strong><\/span><\/p>\n<p style=\"text-align: justify; padding-left: 40px;\">\u65b0\u751f\u5152\u7be9\u6aa2\u65b9\u6cd5\u70ba\u5229\u7528\u4e32\u806f\u8cea\u8b5c\u5100\u6e2c\u91cf\u9ad4\u5167\u8840\u4e2d\u6e38\u96e2\u8089\u9e7c (C0, free carnitine) \u6fc3\u5ea6\uff0c\u7576\u6e38\u96e2\u8089\u9e7c\u6fc3\u5ea6\u4f4e\u6642\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\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\u53ca\u6642\u7684\u91ab\u7642\u5354\u52a9\u3002<\/p>\n<p style=\"text-align: justify; padding-left: 40px;\">\u61f7\u5b55\u671f\u9593\uff0c\u8089\u9e7c\u6703\u900f\u904e\u80ce\u76e4\u904b\u9001\u7d66\u80ce\u5152\uff0c\u56e0\u6b64\u65b0\u751f\u5152\u7684\u8840\u4e2d\u8089\u9e7c\u6fc3\u5ea6\u53ef\u80fd\u53cd\u61c9\u7684\u662f\u6bcd\u89aa\u7684\u72c0\u6cc1\uff0c\u82e5\u5abd\u5abd\u7f79\u60a3\u8089\u9e7c\u5438\u6536\u969c\u7919\u800c\u5bf6\u5bf6\u4e26\u672a\u7f79\u75c5\uff0c\u5bf6\u5bf6\u51fa\u751f\u5f8c\u6703\u51fa\u73fe\u66ab\u6642\u6027\u7684\u8089\u9e7c\u6fc3\u5ea6\u4e0d\u8db3\uff0c\u6545\u6bcd\u5b30\u7686\u61c9\u63a5\u53d7\u9032\u4e00\u6b65\u7684\u76f8\u95dc\u6aa2\u67e5\u3002<\/p>\n<p style=\"text-align: justify;\"><span style=\"font-size: 14pt;\"><strong>\u539f\u767c\u6027\u8089\u9e7c\u7f3a\u4e4f\u75c7<\/strong><strong>\u78ba\u8a3a\u8a55\u4f30\u65b9\u5f0f<\/strong><\/span><\/p>\n<ul style=\"text-align: justify;\">\n<li>\u81e8\u5e8a\u75c7\u72c0\u8a55\u4f30<\/li>\n<li>\u60a3\u8005\u8840\u6f3f\u4e2d\u7684\u8089\u9e7c\u6fc3\u5ea6<\/li>\n<li>SLC22A5\u57fa\u56e0\u6aa2\u6e2c<\/li>\n<li>\u6aa2\u6e2c\u76ae\u819a\u7e96\u7dad\u82bd\u6bcd\u7d30\u80de (fibroblast) \u4e2d\u662f\u5426\u6709\u8089\u9e7c\u904b\u8f38 (carnitine transport) \u4e0d\u8db3<\/li>\n<li>\u53ef\u8003\u616e\u9032\u884c\u8089\u9e7c\u505c\u85e5\u6e2c\u8a66: \u88dc\u5145\u8089\u9e7c2-3\u500b\u6708\u5f8c\u505c\u85e51-2\u5468\uff0c\u505c\u85e5\u5f8c\u6578\u503c\u4e0b\u964d\u70ba\u967d\u6027\u3002<\/li>\n<\/ul>\n<p style=\"text-align: justify;\"><span style=\"font-size: 14pt;\"><strong>\u539f\u767c\u6027\u8089\u9e7c\u7f3a\u4e4f\u75c7<\/strong><strong>\u6cbb\u7642\u65b9\u5f0f<\/strong><\/span><\/p>\n<ul>\n<li style=\"text-align: justify;\">\u78ba\u8a3a\u500b\u6848\u9808\u7d42\u751f\u88dc\u5145\u8089\u9e7c(Carnitine 100 -200 mg\/kg\/day PO \u52062-4\u6b21\u670d\u7528)\u3002<\/li>\n<li style=\"text-align: justify;\">\u907f\u514d\u98e2\u9913\u53ca\u7981\u98df\u7684\u60c5\u5f62\u767c\u751f\uff0c\u4ee5\u9632\u75c7\u72c0\u7684\u60e1\u5316\u3002\u7576\u6025\u6027\u767c\u4f5c\uff0c\u800c\u51fa\u73fe\u4f4e\u916e\u6027\u4f4e\u8840\u7cd6\u7684\u8166\u795e\u7d93\u75c5\u8b8a\u6642\uff0c\u5247\u61c9\u5148\u7d66\u4e88\u60a3\u8005\u8461\u8404\u7cd6\u975c\u8108\u8f38\u6db2\uff1b\u82e5\u5df2\u78ba\u8a8d\u70ba\u6b64\u75c7\u60a3\u8005\uff0c\u5247\u53ef\u7d93\u7531\u975c\u8108\u6216\u53e3\u670d\u88dc\u5145\u8089\u9e7c\u3002<\/li>\n<li style=\"text-align: justify;\">\u6cbb\u7642\u76e3\u6e2c\u65b9\u5f0f\uff1a\u5b9a\u671f\u76e3\u6e2c\u6e38\u96e2\u8089\u9e7c\u6fc3\u5ea6, \u5fc3\u81df\u72c0\u614b, \u751f\u9577\u53ca\u767c\u5c55\u72c0\u614b\u3002\u900f\u904e\u65b0\u751f\u5152\u7be9\u6aa2\u65e9\u671f\u8a3a\u65b7\u51fa\u7684\u60a3\u8005\uff0c\u53ef\u4ee5\u5f9e\u5c0f\u958b\u59cb\u670d\u85e5\u88dc\u5145\u8089\u9e7c\uff0c\u7dad\u6301\u8840\u6f3f\u5167\u6b63\u5e38\u8089\u9e7c\u6fc3\u5ea6\u3002\u9019\u4e9b\u5b69\u5b50\u56e0\u70ba\u5728\u5668\u5b98\u53d7\u5230\u640d\u5bb3\u524d\u51fa\u73fe\u524d\u5c31\u958b\u59cb\u63a7\u5236\u8089\u9e7c\u6fc3\u5ea6\uff0c\u56e0\u6b64\u5b69\u5b50\u7684\u5065\u5eb7\u72c0\u6cc1\u901a\u5e38\u4e0d\u932f\uff0c\u751f\u9577\u8207\u767c\u80b2\u4e5f\u6b63\u5e38\uff0c\u8207\u4e00\u822c\u4eba\u5065\u5eb7\u72c0\u6cc1\u5dee\u7570\u4e0d\u5927\u3002<\/li>\n<\/ul>\n<h3><strong><span style=\"font-size: 14pt;\">\u539f\u767c\u6027\u8089\u9e7c\u7f3a\u4e4f\u75c7\u7684\u7be9\u6aa2\u65b9\u6cd5<\/span><\/strong><\/h3>\n<ul>\n<li style=\"text-align: justify;\">\u6aa2\u9a57\u65b9\u5f0f\uff1a\u751f\u5316\u6aa2\u9a57\uff0c\u4f7f\u7528\u542b\u7a69\u5b9a\u540c\u4f4d\u7d20\u6a19\u8a18\u7684\u5167\u90e8\u6a19\u6e96\u54c1\uff08Internal Standard\uff09\u6eb6\u5291\u8403\u53d6\u4e7e\u71e5\u8840\u9ede\u4e2d\u7684\u8102\u80aa\u9178\uff0c\u518d\u4ee5\u4e32\u806f\u8cea\u8b5c\u5100\uff08MS\/MS\uff09\u9032\u884c\u5206\u6790\u3002\uff08111.3-\u81f3\u4eca\uff09<\/li>\n<li style=\"text-align: justify;\">\u6aa2\u9a57\u8a66\u5291\uff1aNeoBase<sup>TM<\/sup>\u00a02 Non-derivatized MSMS kit\uff08PerkinElmer\uff09<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>\u4ec0\u9ebc\u662f\u539f\u767c\u6027\u8089\u9e7c\u7f3a\u4e4f\u75c7\uff1f \u4eba\u9ad4\u7531\u98df\u7269\u4e2d\u651d\u53d6\u651d\u53d6\u8089\u9e7c (carnitine)\u5f8c\uff0c\u7d30\u80de\u5229\u7528\u5b83\u5c07\u8102\u80aa\u9178\u904b\u9001\u5230\u7c92\u817a\u9ad4\u9032 &#8230; <a title=\"\u539f\u767c\u6027\u8089\u9e7c\u7f3a\u4e4f\u75c7 (PCD)\" class=\"read-more\" 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