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肝豆状核变性(HLD),又称Wilson病,是一种常染色体隐性遗传的铜代谢障碍引起的家族性疾病,是目前能用药物治疗的几种先天性代谢障碍疾病之一,如能及早诊治,病情可能停止发展或获得缓解。我院自1993～1997年共收治34例,对其中误诊的26例(误诊率为76.5％)作一分析,旨在探讨误诊的原因及减少误诊的对策,以提高早期诊断及治疗水平。 1 临床资料 1.1 一般资料 26例中男15例,女11例,年龄6～36岁,平均年龄14岁,慢性起病20例,亚急性起病6例,误诊时间20天至
Hepatolenticular degeneration (HLD), also known as Wilson’s disease, is an autosomal recessive copper metabolism disorder caused by familial diseases, is currently able to use drugs to treat one of several congenital metabolic disorders, such as Early diagnosis and treatment, the disease may stop development or ease. In our hospital from 1993 to 1997, a total of 34 cases were treated, of which 26 cases were misdiagnosed (misdiagnosis rate was 76.5%) for an analysis of the reasons for misdiagnosis and reduce misdiagnosis strategies to improve the early diagnosis and treatment. 1 Clinical data 1.1 General information 26 cases, 15 males and 11 females, aged 6 to 36 years, mean age 14 years, 20 cases of chronic onset, subacute onset in 6 cases, misdiagnosis time 20 days to