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[威尔逊氏病:肝脏疾病的临床谱]

[Wilson's disease: clinical spectrum of liver disease].

作者信息

Ochoa Palominos Alejandra, Ibáñez Samaniego Luis, Catalina Rodríguez María-Vega, Pajares Díaz José, Clemente Ricote Gerardo

机构信息

Sección de Hepatología, Servicio de Aparato Digestivo, Hospital General Universitario Gregorio Marañón, Madrid, España.

出版信息

Gastroenterol Hepatol. 2013 Feb;36(2):86-91. doi: 10.1016/j.gastrohep.2012.07.009. Epub 2012 Oct 22.

Abstract

Wilson's disease is a hereditary autosomal recessive disorder of copper metabolism,characterized by copper accumulation in the liver and brain. This rare entity, which has a broad clinical spectrum, is often difficult to diagnose and should therefore always be suspected in patients with liver disease of unclear cause. We describe two types of manifestation of liver disease in two patients; the first developed fulminant hepatic failure requiring urgent liver transplantation and the second showed advanced chronic liver disease and received standard medical treatment. The objective of this clinical observation is to analyze the diagnosis of Wilson's disease in two patients with distinct onset, illustrating the broad clinical spectrum of the disease, and its treatment.

摘要

威尔逊氏病是一种遗传性常染色体隐性铜代谢紊乱疾病,其特征是铜在肝脏和大脑中蓄积。这种罕见的疾病临床谱广泛,常常难以诊断,因此对于病因不明的肝病患者应始终予以怀疑。我们描述了两名患者肝病的两种表现类型;第一名患者发展为暴发性肝衰竭,需要紧急肝移植,第二名患者表现为晚期慢性肝病并接受了标准药物治疗。本临床观察的目的是分析两名起病不同的威尔逊氏病患者的诊断情况,说明该疾病广泛的临床谱及其治疗方法。

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