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目的探讨肝豆状核变性的临床特点。方法回顾分析37例肝豆状核变性患者的临床表现。结果发病年龄6～46岁,平均年龄15.7岁。37例患者中脑型22例,内脏型8例,混合型6例,骨-肌型1例。首发症状为神经精神异常者25例,肝肾损害11例,其他2例。K-F 环阳性36例,血清铜及铜蓝蛋白均降低,尿铜增加,尿隐血和(或)尿蛋白阳性12例。B 超检查37例为肝损图像,其中有肝硬化脾肿大20例。头颅 CT 显示双侧尾状核、豆状核低密度灶31例,CT 阴性6例中有3例 MRI 阳性结论肝豆状核变性多见于青少年发病,以神经精神及肝肾损害表现为主,B 超肝脾检查及头颅 CT 阳性高。
Objective To investigate the clinical features of hepatolenticular degeneration. Methods Retrospective analysis of 37 cases of Wilson’s disease in patients with clinical manifestations. Results The age of onset was 6 ~ 46 years old, with an average age of 15.7 years. Among the 37 patients, there were 22 cases of midbrain type, 8 cases of visceral type, 6 cases of mixed type and 1 case of bone-type. The first symptom of neuropsychiatric disorders in 25 cases, liver and kidney damage in 11 cases, the other 2 cases. K-F ring positive in 36 cases, serum copper and ceruloplasmin were reduced, increased urinary copper, urine occult blood and / or urine protein positive in 12 cases. B-ultrasound examination of 37 cases of liver damage images, including cirrhosis splenomegaly in 20 cases. Head CT showed bilateral caudate nucleus, 31 cases of low density foci of the nucleus pulposus, 3 cases of CT negative 6 cases of MRI positive Conclusion Hepatolenticular degeneration more common in adolescents, with neuropsychiatric and liver and kidney damage performance, B super liver and spleen examination and skull CT positive high.