从2例患儿的不同结局探讨儿童肝豆状核变性筛查的必要性

The necessity for hepatolenticular degeneration screening among children based on the different results of two cases

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。

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.