目的 总结与探讨我院肝豆状核变性患儿的临床资料，提高对该病的认识及诊治水平。方法 总结回顾性分析38例肝 豆状核变性儿童的临床特点、实验室结果、影像学特征、治疗及预后。根据平均年龄分为小年龄组和大年龄组，通 过统计学分析比较组间差异。结果 患儿确诊平均年龄6.5岁。首发症状以肝功能损害为主18例，神经系统症状为主 11例，混合型有4例(肝功能损害合并神经系统症状)，其它类型有5例。34例患儿行血铜蓝蛋白检测，91.2%(31/34) 低于正常水平。18例患儿行24小时尿铜检测，其中88.9%(16/18)高于正常水平。检查角膜K-F环29例，12例阳性。 大年龄组与小年龄组间存在统计学差异(P<0.05)。头颅CT或核磁检查15例，8例表现为双侧基底节区对称性密度改 变或异常信号影。结论 儿童肝豆状核变性临床表现复杂多样，应提高对本病的认知水平，尽早诊断，改善预后。

Objective Clinical data of children with Wilson Disease (WD) was reviewed to make early diagnosis and improve the prognosis. Methods The clinical and laboratory characteristics of 38 children with Wilson Disease were investigated and retrospectively analyzed. All patients were divided into two groups as younger age group and elder age group. Differences between groups were further analyzed. Results The mean age at diagnosis was 6.5 years old. The initial manifestations were impairment of liver function (18cases), symptoms of central nervous system (11cases), mixed symptoms of both organs (4cases), and others (5cases). Serum ceruloplasmin level was decreased in 31cases (91.2%). Fleischer ring was checked in 29 patients and only 12 cases were positive, which made a difference between the two age groups. Brain CT or MRI was performed in 15 cases, and symmetrical abnormal signal of bilateral basal ganglia area was found in 8 cases. Conclusion Clinical manifestations of Wilson Disease in children are complex and diverse. Further research is needed to make early diagnosis and improve prognosis.