儿童肝豆状核变性38例临床分析

Clinical analysis of hepatolenticular degeneration in 38 children

目的探讨儿童肝豆状核变性(WD)的临床特征及诊断。方法回顾分析38例WD患儿的临床资料。结果38例患儿中男15例、女23例,确诊时中位年龄6.0岁,起病到确诊时的病程平均5.7个月,中位病程2个月,最长3年。以肝功能异常首发者最为常见(71.1%),其中谷氨酸氨基转移酶>2倍正常上限者27例(71.1%);血铜蓝蛋白明显降低36例(94.7%),铜氧化酶明显降低37例(97.4%);33例检测24小时尿铜均升高,其中32例(84.2%)>150μg/24 h。存在K-F环10例(26.3%)。19例患儿行ATP 7 B基因测序,阳性率83.3%。结论儿童WD起病以肝脏病变为多,结合血铜蓝蛋白、铜氧化酶以及24 h尿铜测定基本可作出临床诊断。对于高度怀疑但依据不足的患儿行ATP7B基因检测有助于早期明确诊断。

Objective To explore the clinical characteristics and diagnosis of hepatolenticular degeneration(WD)in children.Method The clinical data of38children with WD were analyzed retrospectively.Results In the38cases(15males and23females),the median age at diagnosis was6years,and the average interval between onset and confirmed diagnosis was5.7months.The median course of disease was2months and the longest was3years.Hepatic dysfunction was the most common initial symptom(71.1%),and27cases had glutamic acid aminotransferase>2ULT(71.1%);Serum ceruloplasmin decreased obviously in3cases(94.7%),copper oxidase was significantly reduced in37cases(97.4%);24h urine copper increased in33cases,in which32cases(84.2%)had>150μg/24h.The K-F rings were presented in10cases(26.3%).ATP7B gene sequencing was performed in19cases,and the positive rate was83.3%.Conclusions Onset with liver lesions was common in children with WD,The combination of the results of serum ceruloplasmin,copper oxidase,and24h urine copper may made a clinical diagnosis.For a highly suspected case with inadequate evidence,the ATP7B gene detected is helpful.