【摘要】 目的探讨肝豆状核变性的临床特征及误诊的原因。方法回顾性分析我院近3个月收治的2例肝豆状核变性患者,调查其家族史、临床表现、实验室检查、角膜色素环等。结果1例患者有明确家族史,2例患者均以肝功能异常为主要表现,其中1例患者有低钙血症;2例患者进行铜蓝蛋白检测均为阳性;1例患者发现角膜色素环。结论肝豆状核变性是一种常染色体隐性遗传病,由于起病隐匿,临床表现多种多样,容易被误诊,青少年不明原因的肝病要注意本病的可能性,此外还应对确诊患者的一级亲属进行筛查,以便早期发现、早期治疗。更多还原

【Abstract】 Objective To study the clinical feature and the reasons of misdiagnosis for HLD.Methods Retrospective analysis 2 patients of HLD in our hospital in recent three months,investigation their family histories,clinical situations,laboratory examinations,pigmented ring of comea.Results 1 patient has certain family history,2 patients′chief appearances are abnormal liver function and one of them appearance hypocalcemia,their copper-protein degrade obviously and one of them appearance pigmented ring of comea.Conclusion HLD is a kind of autosomal recessive inherited situations,we must consider the possibility of HLD to the teenagers whose liver disease in nubibus reasons and screen the first degree relatives of patients of HLD in order to early discovery and early treatment HLD.更多还原