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目的探讨以肝硬化为主要表现的肝豆状核变性的早期临床表现及早期诊断,旨在提高临床医生对本病的认识,减少误诊。方法回顾12例误诊为肝硬化的患者的早期临床表现、实验室及特殊检查和误诊原因。结果 12例误诊患者中,发病年龄11～46岁,平均年龄32.6岁,主要见于中年人。病程5 d～6年,平均2.6年,误诊时间最长达29个月,有阳性家族史者3例,均为同胞一代发病。分别有11例和5例患者有血清铜蓝蛋白降低和尿铜增加;裂隙灯下角膜K-F环阳性10例。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,中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,以便早期诊断、早期治疗。
Objective To investigate the early clinical manifestations and early diagnosis of hepatolenticular degeneration with liver cirrhosis as the main purpose, to improve clinicians’ awareness of the disease and reduce misdiagnosis. Methods The clinical manifestations of 12 patients with misdiagnosed cirrhosis, laboratory, and the causes of special examinations and misdiagnosis were retrospectively reviewed. Results Of the 12 patients who were misdiagnosed, the age of onset was 11-46 years with a mean age of 32.6 years, mainly in middle-aged people. Duration of 5 d ~ 6 years, an average of 2.6 years, misdiagnosis of up to 29 months, 3 cases of positive family history, all siblings of the incidence. There were 11 cases and 5 cases of patients with decreased serum ceruloplasmin and increased urinary copper; Corneal K-F ring 10 cases under the slit lamp. Conclusions Hepatolenticular degeneration is an autosomal recessive disease. Because of its insidious onset, the clinical manifestations are diverse and easily misdiagnosed. In the middle-aged unknown liver disease, the possibility of this disease should be noted. In addition, First-degree relatives of screening for early diagnosis, early treatment.