儿童肝豆状核变性的临床研究

Clinical study of Wilson's disease in children

目的 总结儿童肝豆状核变性(WD)的诊治经验,探讨监测疗效的敏感指标。方法 分析77例儿童WD临床资料。结果 77例中以肝脏症状、神经／精神症状和其他症状起病者分别为59、13、6例。以肝病起病59例中坚持治疗者可达到或维持临床无症状。暴发性肝炎型5／6例死亡或自动出院。以神经／精神症状起病者4／5例症状明显好转。监测治疗前尿铜平均728.4μg／24 h,青霉胺、硫酸锌及青霉胺+硫酸锌治疗后尿铜分别为792.0、286.1、388.5μg／24 h。结论 儿童WD中以肝病为首发症状者最多见。青霉胺仍是治疗WD的经典药物,治疗期间定期重点随诊肝功能、血常规及尿铜最为重要。

Objective To evaluate the diagnosis and treatment of Wilson's disease (WD) in children and to detect the sensitive criteria for evaluation of curable effect. Methods The clinical data of 77 cases with WD aged under 16 years old were collected, who were treated with penicillamine, with/without zinc salts, follow - up in out patient clinic. Results The initial clinical manifestations were hepatic in 59 cases; neurological in 13 and others in 5 cases. Fifty - nine cases who received treatment remained asymptomatic. Five WD presenting with fulminate hepatic failure died or discharged without treatment. Four patients presenting with neurological symptoms became asymptomatic or much better. The average of 24 hours urine copper before treatment was 728.4 μg, which were 792. 0 μg after treatment with penicillamine, 286.1 μg with penicillamine and zinc salts, 388.5 μg with zinc salts. Conclusions Initial hepatic involvement in WD of children is seen more frequently than others. Penicillamine remains the gold standard therapy for this disease. It is important to maintain the regular tests of liver function, 24 hours urine copper and blood routine during follow- up period.