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肝豆状核变性22例临床分析
引用本文:李瑞林,和光祖,陈征起.肝豆状核变性22例临床分析[J].西安交通大学学报(医学版),1990(3).
作者姓名:李瑞林  和光祖  陈征起
作者单位:西安医科大学第二附属医院儿科学教研室 (李瑞林,和光祖),西安医科大学第二附属医院儿科学教研室(陈征起)
摘    要:在1974~1987年收治的22例肝豆状核变性中,以神经系统紊乱为首发症状者15例(68%),以肝病为首发症状者7例(32%)。其中20例查到K—F氏环,5例有溶血性贫血,9例有遗传家族史。提高对本病肝病型的认识,对可疑患儿进行仔细的体格检查和实验室检查及对先证者的同胞和父母进行筛选试验,对于本病的早期诊断有重要意义。

关 键 词:肝豆状核变性  肝病型  筛查

CLINICAL ANALYSIS OF 22 PATIENTS WITH HEPATOLENTICULAR DEGENERATION
Li Rnilin,et al.CLINICAL ANALYSIS OF 22 PATIENTS WITH HEPATOLENTICULAR DEGENERATION[J].Journal of Xi‘an Jiaotong University:Medical Sciences,1990(3).
Authors:Li Rnilin  
Abstract:22 cases of hepatolenticular degeneration from 1974 to 1987 are reported. Among initial symptoms of these cases, 15 showed neurologic dysfuntion, 7 showed liver disease. 20 cases of 22 patients have kayser-Fleischer rungs, 5 cases have hemolytic anemia, 9 cases have genetic family history. In order to increase the knowledge of liver disease, suspicious patients must have physical examination and laboratory tests. Siblings and parents of symptomatic patients must be screened and this is important for early diagnosis.
Keywords:hepatolenticular degeneration  liver disease  screened
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