A man with type III glycogenosis associated with cirrhosis and portal hypertension.
A man with type III glycogenosis associated with cirrhosis and portal hypertension.
复制标题
一名患有与肝硬化和门静脉高压相关的 III 型糖原增多症的男性。
DOI：
10.1016/0016-5085(93)91088-y
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发表时间：
1993
期刊：
影响因子：
29.4
通讯作者：
Lucey,MR
中科院分区：
文献类型：
--
作者：
Markowitz,AJ;Chen,YT;Muenzer,J;Delbuono,EA;Lucey,MR
III型糖原沉积症是一种遗传性糖原代谢紊乱，由淀粉酶-1，6-糖苷酶(去分支酶)活性降低或缺失引起，在成人中并不经常与肝硬变和门脉高压有关。本文报告一位有文献记载的IIIa型糖原增多症的成年高加索人，其临床表现为继发于肝硬变的静脉曲张出血。未发现其他原因引起的肝硬变。
Type III glycogenosis, an inherited disorder of glycogen metabolism that results from reduced or absent activity of the enzyme amylo-1,6-glycosidase (debranching enzyme), has not been frequently associated with cirrhosis and portal hypertension in adults. An adult Caucasian man with well-documented type IIIa glycogenosis, who presented with a variceal hemorrhage secondary to hepatic cirrhosis, is described here. No other cause of cirrhosis was found.