{"id":624,"date":"2016-04-11T08:50:20","date_gmt":"2016-04-11T00:50:20","guid":{"rendered":"http:\/\/web.csh.org.tw\/web\/222010\/?p=624"},"modified":"2017-05-04T14:31:12","modified_gmt":"2017-05-04T06:31:12","slug":"624","status":"publish","type":"post","link":"https:\/\/web.csh.org.tw\/web\/222010\/?p=624","title":{"rendered":"\u3010\u5c0f\u5152\u79d1\u3011\u5152\u7ae5\u6642\u671f\u795e\u7d93\u9000\u5316\uff0d\u5c3c\u66fc\u5339\u514b\u6c0f\u75c7(Niemann-Pick Disease)"},"content":{"rendered":"<p><!--more--><\/p>\n<h4 style=\"text-align: right;\" align=\"center\">\u6587\/\u5c0f\u5152\u79d1 \u8521\u653f\u9053 \u4e3b\u6cbb\u91ab\u5e2b<\/h4>\n<p>\u300c\u4ee5\u6b23\u570b\u5c0f\u4e00\u5e74\u7d1a\u6642\uff0c\u66fe\u662f\u73ed\u4e0a\u8aaa\u6545\u4e8b\u6bd4\u8cfd\u51a0\u8ecd\uff1b\u537b\u5728\u570b\u5c0f\u4e8c\u5e74\u7d1a\u6642\uff0c\u5abd\u5abd\u767c\u73fe\u5979\u773c\u7403\u7121\u6cd5\u5782\u76f4\u5411\u4e0b\u79fb\u52d5\u3001\u5b57\u8d8a\u5beb\u8d8a\u5927\u3001\u8ab2\u696d\u6f38\u6f38\u8ddf\u4e0d\u4e0a\u3002\u773c\u79d1\u3001\u8166\u79d1\u3001\u9023\u7cbe\u795e\u79d1\u90fd\u770b\u4e86\uff0c\u6aa2\u9a57\u90fd\u6b63\u5e38\u3002\u8dd1\u904d\u5404\u5bb6\u91ab\u9662\uff0c\u6b77\u664218\u500b\u6708\u7684\u714e\u71ac\uff0c\u624d\u8a3a\u65b7\u51fa\u662f\u7f55\u898b\u7684\u907a\u50b3\u57fa\u56e0\u75be\u75c5\uff0cC\u578b\u5c3c\u66fc\u5339\u514b\u6c0f\u75c7\u300d\u3002<\/p>\n<p>\u5c3c\u66fc\u5339\u514b\u75c7(Niemann-Pick Disease)\uff0c\u662f\u4e00\u7a2e\u9ad4\u67d3\u8272\u9ad4\u96b1\u6027\u907a\u50b3\u6eb6\u5c0f\u9ad4(lysosome)\u8102\u8cea\u4ee3\u8b1d\u7570\u5e38\uff0c\u5c0e\u81f4\u904e\u91cf\u8102\u8cea\u7d2f\u7a4d\u65bc\u809d\u81df\u3001\u814e\u81df\u3001\u813e\u81df\u3001\u9aa8\u9ad3\u7b49\uff0c\u751a\u81f3\u8166\u90e8\uff0c\u800c\u9020\u6210\u9019\u4e9b\u5668\u5b98\u7684\u75c5\u8b8a\u3002\u81e8\u5e8a\u4e0a\u4e3b\u8981\u53ef\u5206\u70ba A\u3001B\u3001C\u4e09\u578b\u3002A\u3001B\u578b\u5c6c\u65bc\u9178\u6027\u795e\u7d93\u9798\u78f7\u8102\u9176(Acid Sphingomyelinase, ASM)\u7f3a\u4e4f\u6216\u6d3b\u6027\u4e0d\u8db3\uff0cC\u578b\u5c6c\u65bc\u7d30\u80de\u5167\u81bd\u56fa\u9187\u4ee3\u8b1d\u3001\u904b\u8f38\u969c\u7919\uff0c\u800c\u9178\u6027\u795e\u7d93\u9798\u78f7\u8102\u9176\u5247\u662f\u6b63\u5e38\u6216\u8f15\u5fae\u7f3a\u4e4f\u3002\u56b4\u91cd\u7684\u795e\u7d93\u7cfb\u7d71\u5f71\u97ff\u4e3b\u8981\u767c\u751f\u5728A\u3001C\u578b\uff0cB\u578b\u5247\u7121\u795e\u7d93\u7cfb\u7d71\u7684\u554f\u984c\u3002<\/p>\n<p>\u76ee\u524d\u53f0\u7063\u591a\u70baC\u578b\u3002\u4f30\u8a08C\u578b\u5c3c\u66fc\u5339\u514b\u6c0f\u75c7(NP-C)\u7684\u767c\u751f\u7387\u7d04\u70ba15\u842c\u5206\u4e4b\u4e00\u3002\u73fe\u4eca\u5df2\u77e5NP-C1\u6216NP-C2\u57fa\u56e0\u7684\u7a81\u8b8a\u662f\u5c0e\u81f4NP-C\u7684\u4e3b\u56e0\uff0cNP-C1\u57fa\u56e0\u6d89\u53ca\u7684\u86cb\u767d\u8207\u79fb\u9664\u7d30\u80de\u4e2d\u7684\u81bd\u56fa\u9187\u548c\u8102\u8cea\u6709\u95dc\uff0cNP-C2\u5247\u8207\u80fd\u548c\u81bd\u56fa\u9187\u7d50\u5408\u7684\u904b\u8f38\u86cb\u767d\u6709\u95dc\u300295%\u7684NP-C\u75c5\u4eba\u4e3b\u8981\u662f\u7b2c18\u5c0d\u67d3\u8272\u9ad4\u4e0a\u7684NP-C1\u57fa\u56e0\u7a81\u8b8a\uff0c\u5176\u9918\u7d045%\u7684\u75c5\u4eba\u662f\u7b2c14\u5c0d\u67d3\u8272\u9ad4\u4e0aNP-C2\u57fa\u56e0\u7a81\u8b8a\u3002<\/p>\n<p>\u81e8\u5e8a\u75c7\u72c0<\/p>\n<p>NP-C\u5178\u578b\u7684\u767c\u75c5\u6642\u9593\u7d04\u662f\u5728\u7ae5\u5e74\u7684\u4e2d\u81f3\u5f8c\u671f(2-6\u6b72\u5de6\u53f3)\uff0c\u5e38\u898b\u7684\u75c7\u72c0\u5982\uff1a<\/p>\n<p>l\u00a0\u00a0 \u7b28\u62d9(Clumsiness)\u548c\u6b65\u614b\u4e0d\u7a69(Ataxia)\u3002<\/p>\n<p>l\u00a0\u00a0 \u9032\u884c\u6027\u6838\u4e0a\u51dd\u8996\u9ebb\u75fa(Vertical supranuclear gaze palsy, VSGP)\uff1a\u9019\u662fNP-C\u767c\u75c5\u65e9\u671f\u53ef\u80fd\u51fa\u73fe\u4e14\u6700\u5e38\u898b\u7684\u75be\u75c5\u8868\u5fb5\u4e4b\u4e00\u3002\u4e00\u958b\u59cb\u60a3\u8005\u6703\u6709\u5411\u4e0a\u5782\u76f4\u6383\u8996\u7684\u884c\u70ba\uff0c\u4e4b\u5f8c\u773c\u7403\u7e31\u5411\u6383\u8996\u7684\u901f\u5ea6\u6703\u9010\u6f38\u6e1b\u6162\u3001\u7d42\u81f3\u55aa\u5931\uff0c\u75be\u75c5\u665a\u671f\u6a6b\u5411\u6383\u8996\u80fd\u529b\u4e5f\u53ef\u80fd\u53d7\u640d<a title=\"\" href=\"https:\/\/web.csh.org.tw\/web\/222010\/wp-admin\/post-new.php#_ftn1\"><sup><sup>[1]<\/sup><\/sup><\/a><sup>,<a title=\"\" href=\"https:\/\/web.csh.org.tw\/web\/222010\/wp-admin\/post-new.php#_ftn2\"><sup>[2]<\/sup><\/a><\/sup>\u3002(\u57161)<\/p>\n<table border=\"1\" width=\"548\" cellspacing=\"0\" cellpadding=\"0\">\n<tbody>\n<tr>\n<td valign=\"top\" width=\"234\"><img loading=\"lazy\" decoding=\"async\" class=\"aligncenter wp-image-625\" title=\"20160411-1\" src=\"https:\/\/web.csh.org.tw\/web\/222010\/wp-content\/uploads\/2016\/04\/20160411-1.png\" alt=\"\" width=\"230\" height=\"146\" \/><\/td>\n<td valign=\"top\" width=\"314\">\u57161.<\/p>\n<p>l \u8f15\u5ea6\u5782\u76f4\u6383\u8996\u53d7\u640d\uff0c\u60a3\u8005\u4ecd\u80fd\u5920\u67e5\u627e\uff0c\u4f46\u4e0d\u80fd\u5f80\u4e0b\u770b\u3002<\/p>\n<p>l \u91cd\u5ea6\u5782\u76f4\u6383\u8996\u969c\u7919\uff0c\u60a3\u8005\u4e0d\u80fd\u518d\u5411\u4e0a\u6216\u8005\u5411\u4e0b\u770b\u3002<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<ul>\n<li>\u8a8d\u77e5\u80fd\u529b\u9000\u5316(Presenile cognitive decline or dementia)\u3002<\/li>\n<li>\u808c\u8089\u5f35\u529b\u4f4e\u4e0b(Hypotonia)\u3002<\/li>\n<li>\u767c\u97f3\u56f0\u96e3(Dysarthria)\u3002<\/li>\n<li>\u5927\u7d041\/3\u7684NP-C\u60a3\u8005\u6703\u6709\u5c40\u90e8\u6216\u5168\u8eab\u6027\u7684\u7672\u7647\u767c\u4f5c\u60c5\u5f62\u3002<img loading=\"lazy\" decoding=\"async\" class=\"aligncenter size-full wp-image-626\" title=\"20160411-2\" src=\"https:\/\/web.csh.org.tw\/web\/222010\/wp-content\/uploads\/2016\/04\/20160411-2.png\" alt=\"\" width=\"628\" height=\"377\" srcset=\"https:\/\/web.csh.org.tw\/web\/222010\/wp-content\/uploads\/2016\/04\/20160411-2.png 628w, https:\/\/web.csh.org.tw\/web\/222010\/wp-content\/uploads\/2016\/04\/20160411-2-300x180.png 300w\" sizes=\"(max-width: 628px) 100vw, 628px\" \/><\/li>\n<\/ul>\n<p align=\"center\">\u57162:\u4e0d\u540c\u5e74\u9f61\u51fa\u73fe\u4e0d\u540c\u7684NP-C\u795e\u7d93\u53ca\u5167\u81df\u75c7\u72c0<\/p>\n<p align=\"center\">(\u8cc7\u6599\u4f86\u6e90:\u7ffb\u8b6f\u81eaVanier MT. Orphanet J Rare Dis. 2010 Jun 3;5:16)<\/p>\n<p>\u9752\u5c11\u5e74\u6216\u6210\u4eba\u6642\u671f\u624d\u767c\u75c5\u7684\u60a3\u8005\uff0c\u75c5\u7a0b\u9032\u5c55\u76f8\u5c0d\u7de9\u6162\uff0c\u4f46\u4ecd\u53ef\u80fd\u8868\u73fe\u524d\u8ff0\u8207\u795e\u7d93\u7cfb\u7d71\u76f8\u95dc\u7684\u75c7\u72c0\uff0c\u4e26\u51fa\u73fe\u660e\u986f\u7684\u5fc3\u7406\u75be\u60a3\u5982\u6182\u9b31\u75c7\u6216\u7cbe\u795e\u5206\u88c2\u75c7(\u57162)\u3002<\/p>\n<p>\u8a3a\u65b7<\/p>\n<ul>\n<li>\u8840\u6db2\u6aa2\u9ad4\u53ef\u6e2c\u5b9achitotriosidase \u6d3b\u6027\u3002\u56b4\u91cd\u5132\u7a4d\u7684\u60a3\u8005\u6709\u4e0a\u5347\u7684\u60c5\u5f62\u3002\u4f46\u90e8\u5206\u60a3\u8005\u56e0\u70bachitotriosidase \u57fa\u56e0\u7570\u5e38\uff0c\u7121\u6cd5\u88fd\u9020chitotriosidase\u3002<\/li>\n<li>\u8840\u6db2\u6aa2\u9ad4\u53ef\u6e2c\u5b9aplasma oxysterols\u3002\u56b4\u91cd\u5132\u7a4d\u7684\u60a3\u8005\u6703\u6709\u8f03\u591a\u7684oxysterols\uff0c\u4f46\u5728\u75c7\u72c0\u8f03\u8f15\u7684\u60a3\u8005oxysterol\u6578\u503c\u53ef\u80fd\u6b63\u5e38\u3002<\/li>\n<\/ul>\n<p>\u78ba\u8a8d\u8a3a\u65b7\u65b9\u5f0f\u5305\u542b\uff1a<\/p>\n<ul>\n<li>\u751f\u5316\u6aa2\u6e2c(Filipin test)\uff1a\u9935\u98df\u7d30\u80de\u541e\u55dcfilipin (\u4e00\u7a2echolesterol)\uff0c\u4ee5\u986f\u5fae\u93e1\u89c0\u5bdf\u7d30\u80de\u662f\u5426\u80fd\u4ee3\u8b1dcholesterol\uff0c\u662f\u5426\u51fa\u73fe\u8102\u8cea\u5206\u5b50\u56e4\u7a4d\u73fe\u8c61\u3002\u6b64\u6aa2\u6e2c\u9700\u8981\u4f7f\u7528\u60a3\u8005\u7684\u76ae\u819a\u7e96\u7dad\u82bd\u7d30\u80de(\u4ee5\u76ae\u819a\u5207\u7247\u53d6\u5f97\u76ae\u819a\u7d30\u80de\u5f8c\u52a0\u4ee5\u57f9\u990a\u6578\u5468\u5f8c\u53ef\u5f97)\u9032\u884c\u6e2c\u5b9a\u3002<\/li>\n<li>\u5206\u5b50\u907a\u50b3\u5b78\u6aa2\u6e2c(Genetic test)\uff1a\u5229\u7528DNA\u6aa2\u6e2cNPC1\u57fa\u56e0\u7a81\u8b8a\u3002<\/li>\n<\/ul>\n<p>\u6cbb\u7642\u539f\u5247<\/p>\n<p>\u7531\u65bcNP-C\u662f\u4e00\u7a2e\u6f38\u9032\u6027\u75be\u75c5\uff0c\u56e0\u6b64\u53ca\u65e9\u8a3a\u65b7\u3001\u53ca\u65e9\u63a5\u53d7NP-C\u75be\u75c5\u7279\u5b9a\u7642\u6cd5\uff0c\u4ee5\u78ba\u4fdd\u60a3\u8005\u9054\u5230\u7a69\u5b9a\u6216\u5ef6\u7de9\u75be\u75c5\u60e1\u5316\uff0c\u4e26\u7dad\u6301\u8eab\u9ad4\u529f\u80fd\u53ca\u751f\u6d3b\u54c1\u8cea\u7684\u95dc\u9375\uff0c\u9019\u662f\u76ee\u524dNP-C\u7279\u5b9a\u6cbb\u7642\u6240\u80fd\u9054\u5230\u7684\u6700\u4f73\u6cbb\u7642\u76ee\u6a19\u3002\u5176\u4ed6\u6cbb\u7642\u7b56\u7565\u540c\u6642\u5305\u542b\u975e\u7279\u7570\u6027\u4e4b\u75c7\u72c0\u7642\u6cd5\u3002<\/p>\n<ul>\n<li>NP-C\u75be\u75c5\u7279\u5b9a\u7642\u6cd5\uff1a\u53ef\u6e1b\u7de9\u75be\u75c5\u7684\u60e1\u5316\u901f\u5ea6\uff1b\u9019\u7a2e\u85e5\u7269\u70ba\u9798\u7cd6\u8102\u5408\u6210\u6291\u5236\u5291\uff0c\u65bc2009\u5e741\u6708\u5728\u6b50\u76df\u53d6\u5f97\u4e0a\u5e02\u8a31\u53ef\uff0c\u53ef\u6e1b\u7de9\u8102\u80aa\u5206\u5b50\u5806\u7a4d\u73fe\u8c61\u3002\u7814\u7a76\u986f\u793a\uff0c\u6b64\u85e5\u7269\u53ef\u6539\u5584\u6216\u7a69\u5b9aNP-C\u5152\u7ae5\u3001\u9752\u5c11\u5e74\u53ca\u6210\u4eba\u60a3\u8005\u6f38\u9032\u6027\u795e\u7d93\u7cfb\u7d71\u75be\u75c5\u7684\u91cd\u8981\u75c5\u5fb5\u3002<\/li>\n<li>\u75c7\u72c0\u7642\u6cd5\uff1a\u75c7\u72c0\u7642\u6cd5\u7121\u6cd5\u5f71\u97ff\u75be\u75c5\u7684\u60e1\u5316\uff0c\u4f46\u53ef\u6539\u5584\u751f\u6d3b\u54c1\u8cea\u3002<\/li>\n<\/ul>\n<p>\u53c3\u8003\u8cc7\u6599:<\/p>\n<ol>\n<li>\u7f55\u898b\u907a\u50b3\u75be\u75c5\u4e00\u9ede\u901a(http:\/\/www.genes-at-taiwan.com.tw\/genehelp\/database)<\/li>\n<li>Vanier MT. Niemann-Pick disease type C. Orphanet J Rare Dis 2010;5:16.<\/li>\n<li>NPC Info (<a href=\"http:\/\/www.niemann-pick-c.com\/\">http:\/\/www.niemann-pick-c.com\/<\/a>)<\/li>\n<\/ol>\n<div>\n<hr align=\"left\" size=\"1\" width=\"33%\" \/>\n<p><a title=\"\" href=\"https:\/\/web.csh.org.tw\/web\/222010\/wp-admin\/post-new.php#_ftnref1\">[1]<\/a> Patterson MC, Hendriksz CJ, Walterfang M, et al, on behalf of the NP-C Guidelines Working Group. Recommendations for the diagnosis and management of Niemann\u2013Pick disease type C: An update. Mol Genet Metab 2012. 106(3):330-344.<\/p>\n<div>\n<p><a title=\"\" href=\"https:\/\/web.csh.org.tw\/web\/222010\/wp-admin\/post-new.php#_ftnref2\">[2]<\/a> Wijburg FA, Sedel F, Pineda M, et al. Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C. Neurology 2012;78(20):1560-7.<\/p>\n<\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[13],"tags":[],"class_list":["post-624","post","type-post","status-publish","format-standard","hentry","category-doc-heaedu"],"_links":{"self":[{"href":"https:\/\/web.csh.org.tw\/web\/222010\/index.php?rest_route=\/wp\/v2\/posts\/624"}],"collection":[{"href":"https:\/\/web.csh.org.tw\/web\/222010\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/web.csh.org.tw\/web\/222010\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/web.csh.org.tw\/web\/222010\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/web.csh.org.tw\/web\/222010\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=624"}],"version-history":[{"count":7,"href":"https:\/\/web.csh.org.tw\/web\/222010\/index.php?rest_route=\/wp\/v2\/posts\/624\/revisions"}],"predecessor-version":[{"id":1689,"href":"https:\/\/web.csh.org.tw\/web\/222010\/index.php?rest_route=\/wp\/v2\/posts\/624\/revisions\/1689"}],"wp:attachment":[{"href":"https:\/\/web.csh.org.tw\/web\/222010\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=624"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/web.csh.org.tw\/web\/222010\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=624"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/web.csh.org.tw\/web\/222010\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=624"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}