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1 临床资料 1.1 一般资料 肝豆状核变性(HLD)患者15例,男性9例,女性6例,发病年龄5～41岁,有家庭史8例,其中1例同胞2人患此病,族中其他成员(如父母、伯父等)有肝病史者5例。 1.2 首发症状及误诊疾病 5例以肝损害病状起病,发病隐袭,进展缓慢,从发病到来我院就诊时间2个月～48个月不等,曾在不同医院误诊为慢性肝炎2例,肝硬化3例。以精神神经症状为首发症状的病例中,被误诊为病毒性脑炎者5例,风湿性脑炎者3例,精神病者1例。以贫血症状为首发表现者误诊为急性溶血性贫血1例。误诊为慢性肾功能不全者1例。
1 Clinical data 1.1 General information Hepatolenticular degeneration (HLD) in 15 patients, 9 males and 6 females, the age of onset of 5 to 41 years old, 8 cases of family history, of which 1 case of siblings 2 patients, the family Other members (such as parents, uncle, etc.) have a history of liver in 5 cases. 1.2 The first symptom and misdiagnosed disease 5 cases of liver damage onset, onset of insidious, slow progress, come from the onset of our hospital treatment time ranging from 2 months to 48 months, had misdiagnosed as chronic hepatitis in two different hospitals in 2 cases, 3 cases of cirrhosis. In neurological symptoms as the first symptom of cases, were misdiagnosed as viral encephalitis in 5 cases, 3 cases of rheumatic encephalitis, mental illness in 1 case. One case of acute hemolytic anemia was misdiagnosed with anemia as the first manifestation. Misdiagnosed as chronic renal insufficiency in 1 case.