首发表现神经系统症状的肝豆状核变性的临床研究

目的总结以神经系统症状为首发症状的肝豆状核变性(Wilson disease，WD)的临床特点，为提高本病的早期诊断水平提供临床依据。方法分析1997年1月至2003年6月收治的以神经系统症状为首发症状的26例WD患的临床资料。结果WD的首发神经系统症状主要包括锥体外系症状、认知功能障碍、智力下降等。所有患均可见典型K—F环，分别有84．6％、46，2％和56．5％患出现血清铜蓝蛋白下降、血清铜升高和24h尿铜升高；23．1％和53．8％患分别有转氨酶升高和尿常规异常；73．7％患有头颅CT／MRI阳性发现。结论对出现不明原因神经系统症状的儿童和青少年患应注意WD可能性，伴有肝肾功能异常更应高度怀疑。角膜K—F环，血清铜、铜蓝蛋白、24h尿铜测定均为灵敏度和特异性较高的诊断指标，头颅CT／MRI亦有辅助诊断价值。

Clinical study on Wilson's Disease with manifestations of neurologic system as the initial symptoms

Objective To sum up and analyze clinical characteristics of Wilson Disease with neurologic symptoms as the initial symptom and provide clinical evidences for early diagnosis of this kind of WD. Methods Clinical data of 26 Wilson disease patients with neurologic symptoms as the initial symptom were retrospectively analyzed by using SPSS8.0.They were all in patients in Zhanjiang Municipal Center Hospital from Jan. 1997 to Jun 2003. Results Neurologic symptoms of these patients including extrapyramidal symptoms?abnormal cognition?poor intelligence etc. Typical Kayser-Fleischer Ring were found in all patients' hibateral corneas.Blood analysis was observed that the concentration of ceruloplasmin(CP)and 24 hour urine copper excretion decreased in 84.6% and 56.5% of the patients,and total serum copper level elevated in 46.2% of patients.Abnormal high transaminase level and abnormal routine urine data were observed in 23.1% and 53.8% of patients.The results of head CT/MRI Show that pathological changes occurred to 73.7% of the patients. Conclusion Attention should be paid to the children and dolescents who have unknown neurologic symptoms,espically when these symptoms companied with abnormal index of liver function and/or renal function.Kayser-Fleischer Ring?decreased CP and 24 hour urinecopper or elevated serum copper are all high sensitive and spcific diagnostic criteria for WD.Head CT and MRI will be helpful in diagnosis of this disease.