Abstract:

Wilson's disease (WD), also known as hepatomegaly, is an autosomal recessive genetic disease. It develops mostly in children and adolescents, with various clinical manifestations and lack of specificity. Lack of awareness of the disease among primary care physicians leads to high rates of missed diagnosis and misdiagnosis. It is rare to see patients with acute liver failure as the first manifestation of the disease. In this paper, we report a case of Wilson's disease diagnosed as slow-onset acute hepatic failure due to fever at Binzhou Medical University Hospital, who had adverse reactions during the maintenance treatment with penicillamine, and review the relevant literatures to improve clinicians' understanding of Wilson's disease and diagnosis and treatment levels.

Key words:

Wilson's disease, Liver failure, Case report

摘要：

Wilson病又称肝豆状核变性，是一种常染色体隐性遗传病，多在儿童和青少年时期发病，临床表现多种多样，缺乏特异性。基层医生对该病缺乏认识，导致漏诊、误诊率较高，而首发表现为急性肝衰竭的患者少见。本文报道滨州医学院附属医院收治的1例因发热出现慢加急性肝衰竭后确诊为Wilson病的患者，应用青霉胺维持治疗过程中出现不良反应，并复习相关文献，以提高临床医师对Wilson病的认识及诊治水平。

关键词:

Wilson病, 肝衰竭, 病例报告