儿童肝豆状核变性97例分析

目的 总结儿童肝豆状核变性的临床表现以及肝脏组织病理学特点.方法 对97例确诊为肝豆状核变性儿童的就诊原因、临床表现、实验室及肝脏活组织病理学检查结果进行回顾性分析.结果 患者以肝功能异常或肝病表现就诊为主(74%).97例(100%)患者均有肝脏损害,44例(45%)神经系统异常,95例行K-F环检查患者中63例呈阳性;94例行血铜蓝蛋白检测患者中,91例降低,3例正常;37例患者行24 h尿铜检测,其中＞100 μg者25例.17例行病理检查的患者肝组织均有不同程度的炎症及纤维化,其中8例有脂肪变性,3例有糖原累积样改变.结论 儿童肝豆状核变性以肝病表现为主,角膜K-F环、血清铜蓝蛋白、24 h尿铜检查在早期诊断中均存在一定困难,肝脏病理检查对诊断有一定参考价值.

Clinical features of hepatolenticular degeneration in children

OBJECTIVE: To review the clinical features and liver pathology in children with hepatolenticular degeneration. METHODS: Clinical manifestations and results of lab tests and liver biopsies of 97 cases diagnosed as hepatolenticular degeneration in Children's Hospital of Fudan University from Jan 1990 to Nov 2006 were reviewed. RESULTS: Manifestations of liver malfunction were the most common reason (74%) for their clinic visits. All cases showed liver involvement and nervous system involvement was found in 45%. Positive K-F rings were detected in 63 of 95 cases; ceruloplasmin level was low in 91 of the 94 cases, and 24 hour urinary copper excretion exceeded 100 microg in 25 out of 37 cases who had had this test. Seventeen cases had a liver biopsy. Various levels of inflammation and fibrosis were noted in all 17 biopsies; 8 of the 17 also had steatosis and 3 of the 17 also had glycogen accumulation. CONCLUSION: Liver abnormality is a consistent feature in children with hepatolenticular degeneration. Corneal K-F rings, serum ceruloplasmin and the 24-hour urinary copper test have limited values for an early diagnosis of the disease. Liver pathology can be a reference in the diagnosis of hepatolenticular degeneration.