表现为肝硬化和铜过载的ABCB4疾病——可能与威尔逊病混淆
ABCB4 Disease Presenting with Cirrhosis and Copper Overload-Potential Confusion with Wilson Disease.
作者信息
Shneider Benjamin L
机构信息
Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA.
出版信息
J Clin Exp Hepatol. 2011 Sep;1(2):115-7. doi: 10.1016/S0973-6883(11)60131-X. Epub 2011 Nov 9.
Abstract
A 2-year-old female with cirrhosis was found to have a liver copper of 248 μg/g dry weight. She was eventually diagnosed with ABCB4 disease on the basis of heterozygote A546D and R176W mutations. Her liver disease was partially responsive to ursodeoxycholic acid therapy. Copper overload occurs in cholestatic liver disease and this must be considered to avoid misdiagnosis of Wilson disease.
摘要
一名患有肝硬化的2岁女性被发现肝脏铜含量为248μg/g干重。基于杂合子A546D和R176W突变，她最终被诊断为ABCB4病。她的肝病对熊去氧胆酸治疗有部分反应。胆汁淤积性肝病会发生铜过载，必须考虑到这一点以避免误诊为威尔逊病。
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