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%）>150 μg/24 h。存在K-F环 10例（26.3%）。19例患儿行ATP7B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 of 38 children with WD were analyzed retrospectively. Results　 In the 38 cases (15 males and 23 females), the median age at diagnosis was 6 years, and the average interval between onset and confirmed diagnosis was 5.7 months. The median course of disease was 2 months and the longest was 3 years. Hepatic dysfunction was the most common initial symptom (71.1%), and 27 cases had glutamic acid aminotransferase > 2 ULT (71.1%); Serum ceruloplasmin decreased obviously in 3 cases (94.7%), copper oxidase was significantly reduced in 37 cases (97.4%); 24 h urine copper increased in 33 cases,  in which 32 cases (84.2%) had >150 μg/24 h. The K-F rings were presented in 10 cases (26.3%). ATP7B gene sequencing was performed in 19 cases, and the positive rate was 83.3%. Conclusions　Onset with liver lesions was common in children with WD, The combination of the results of serum ceruloplasmin, copper oxidase, and 24 h urine copper may made a clinical diagnosis. For a highly suspected case with inadequate evidence, the ATP7B gene detected is helpful.