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肝豆状核变性(Wilson病),是铜代谢障碍常染色体隐性遗传病。我于1986年收治5例,现报告如下。 5例中男3例,女2例;年龄7～12岁。家族史中,例1、例5两者生母铜氧化酶均降低,无临床症状;例5之弟有夜盲、视物不清的病史。例1表现以神经系统症状为主;例2黄疸,肝大1yr余,曾误诊为肝炎,肝硬化;例3水肿,蛋白尿2yr余,误诊为肾病;例4以骨骼症状为主,误诊为关节炎,低磷抗D性佝偻病,例5贫血、水肿、间断夜盲为主症。5例患儿均有典型的K—J环和不同程度的贫血,铜氧化酶均降低,
Wilson’s disease (Wilson’s disease) is an autosomal recessive disorder of copper metabolism. I admitted in 1986, 5 cases, are as follows. 5 males in 3 cases, 2 females; aged 7 to 12 years. Family history, case 1, case 5 both mother copper oxidase are reduced, no clinical symptoms; 5 younger brother had night blindness, blurred vision of the disease history. Example 1 manifested nervous system symptoms; Example 2 jaundice, liver 1yr more than had been misdiagnosed as hepatitis, cirrhosis; case 3 edema, proteinuria 2yr more than misdiagnosed as kidney disease; 4 cases of skeletal symptoms, misdiagnosed as Arthritis, low-phosphorus anti-Rarytic rickets, case 5 anemia, edema, intermittent night blindness-based disease. 5 cases of children have a typical K-J ring and varying degrees of anemia, copper oxidase are reduced,