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摘要：
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摘要：对四川省妇幼保健院收治的2例肝功能异常儿童进行生物化学及基因检测，2例患
儿均确诊为肝豆状核变性，病例1以肝衰竭并溶血性贫血为主要表现，反复行人工肝治
疗但病情无好转，家属放弃治疗后死亡；病例2体格检查发现肝功能异常，口服锌剂治
疗后肝功能正常，随访近2年无不适。肝豆状核变性患儿出现临床症状后再就诊往往存
在诊断延迟，因此有必要进行儿童肝豆状核变性的早期筛查。
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Abstract: Biochemical and genetic detection were performed in two children with abnormal
liver function in Sichuan Provincial Hospital for Women and Children. The two cases were
diagnosed as hepatolenticular degeneration. The main symptom of case one was liver failure
complicated with hemolytic anemia, who was given several artificial liver treatments,
however, the condition did not improve. Finally, the case died after the family members
gave up treatment. Case two was found abnormal liver function after physical examination
and was given oral zinc treatment, who had no symptom in follow-up for nearly 2 years.
The diagnosis of hepatolenticular degeneration in children with clinical manifestations is
often delayed, therefore, it is necessary to screen hepatolenticular degeneration early among
children.
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