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目的探讨肝豆状核变性的临床特征,旨在提高临床医生对本病的认识。方法回顾分析12例肝豆状核变性患者的临床表现、实验室指标和特殊检查结果。结果 12例患者在就诊过程中均有不同程度的诊断延误,发病年龄为11～46岁,7例治疗后症状缓解,其中5例随访1～5年,病情无变化2例(16.6%),死亡1例(8.3%)。结论本病以肝病为首发症状者居多,易被长期误诊或诊断不明,早期驱铜治疗对预后至关重要。
Objective To investigate the clinical features of hepatolenticular degeneration in order to improve clinicians’ understanding of the disease. Methods Retrospective analysis of 12 cases of hepatolenticular degeneration in patients with clinical manifestations, laboratory indicators and special examination results. Results All the 12 patients had different degrees of diagnosis delay during the treatment. The age of onset was 11-46 years old. The symptoms of 7 patients were relieved after treatment. Among them, 5 cases were followed up for 1 to 5 years, 2 cases were unchanged (16.6%), One patient died (8.3%). Conclusions Most of the patients with liver disease as the first symptom are easy to be misdiagnosed or diagnosed for a long time. Early treatment with copper is crucial for prognosis.