目的　分析肝豆状核变性患儿的临床特点。方法　回顾性分析13年间确诊的124例肝豆状核变性患儿的临床特征、实验室及影像学检查等结果。结果　124例肝豆状核变性患儿平均起病年龄（9.6±2.7）岁，平均就诊年龄（10.1±2.7）岁。临床分型中，肝型75例（60.5%），脑型19例（15.3%），混合型20例（16.1%），其他型10例（8.1%）。肝型较其他各型起病年龄小，差异有统计学意义（P<0.05）。患儿中K-F环阳性率为82.1%（92/112），铜蓝蛋白异常率为98.4%（122/124），115例行24 h尿铜检查异常率为96.5%（112/115），有阳性家族史者占39.5%（49/124）。结论　儿童肝豆状核变性的临床表现多样，首发症状各异，并且随年龄改变呈现不同临床特点，遇到可疑患儿应及时筛查，以达到早期诊治的目的。

Objectives　To analyze the clinical characteristics of children with hepatolenticular degeneration. Methods　 The clinical features, laboratory and imaging data of 124 children with hepatolenticular degeneration diagnosed in the past thirteen years were retrospectively analyzed. Results　The mean onset age was (9.6±2.7）years and the mean age at diagnosis was (10.1±2.7) years. Clinical classification shows 75 cases (60.5%) of hepatic type, 19 cases (15.3%) of neurological type, 20 cases (16.1%) of mixed type, and 10 cases (8.1%) of others types. The onset age of hepatic type was significantly younger than that of the rest three types (P<0.05). The positive rate of corneal Kayser-Fleischer rings was 82.1% (92/112). The abnormality rate of ceruloplasmin was 98.4% (122/124). Among 115 children had testing of 24 h urine copper, the abnormality rate was 96.5% (112/115). The positive family history accounted for 39.5% (49/124). Conclusions　The clinical characteristics of children with hepatolenticular degeneration are diverse, which have different symptoms at onset, also changed with ages. The screening test should be applied in suspected children for early diagnosis and management.