34例肝豆状核变性病例临床分析

Clinical Analysis of 34 Cases with Hepatolenticular Degeneration

目的总结肝豆状核变性（WD）的临床特点,为早期诊治提供临床依据.方法回顾性分析34例肝豆状核变性患者的临床资料.结果 34例患者中误诊率高达70.6%.患者中血清铜蓝蛋白下降27例,占79.4%;24 h尿铜排泄量增加16例,占47.1%;血清铜下降18例,占52.9%;出现K-F环共27例,平均阳性率为79.4%.结论出现不明原因的肝脏损害、锥体外系症状的青少年患者,以及不足40岁的帕金森患者,应该注意这些疾病与WD病的鉴别,及早检查肝功能、血清铜、铜蓝蛋白等指标.

Objective To summarize clinical characteristics of hepatolenticular degeneration in order to provide clinical evidences for the early diagnosis and treatment of this disease.Method A retrospective analysis of clinical data from 34 patients with hepatolenticular degeneration was performed.Results 34 patients were misdiagnosed as high as 70.6%,including 27 cases with decreased serum ceruloplasmin,accounting for 79.4%,16 cases with increased copper excretion in urine during 24 hours,accounting for 47.1%,18 cases with declined serum copper,accounting for 52.9%.27 cases with K-F ring appearance in which the average positive rate accounted for 79.4%.Conclusion Adolescent patients with liver damage and extrapyramidal symptoms whose causes are unknown,and some Parkinson's patients who are less than 40 years old should be paid more attention to be differentiated with WD,and their liver function,serum copper,blood ceruloplasmin should be detected as early as possible.