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肝豆状核变性是一种常染色体隐性遗传病。1982～2001年我们收治88例,现将诊断体会与治疗效果总结如下。 1.资料与方法:(1)病人:88例,男48例,女40例,发病年龄4.5～15岁,平均9岁。(2)检查:除常规检查外,均在裂隙灯下查角膜K—F环,测血清铜氧化酶吸光度,并进行血铜及24h尿铜测定。(3)诊断标准:排除其他原因的肝病和(或)神经系统异常;或同胞中有本病患者。具备下列4项中之3项或以
Hepatolenticular degeneration is an autosomal recessive disease. We admitted from 1982 to 2001, 88 cases, now the diagnosis and treatment of the results summarized below. 1. Materials and Methods: (1) The patient: 88 cases, 48 males and 40 females, the age of onset 4.5 to 15 years old, average 9 years old. (2) examination: In addition to routine examination, under the slit lamp check corneal K-F ring, serum copper oxidase absorbance, and blood copper and 24h urinary copper determination. (3) diagnostic criteria: exclude other causes of liver disease and / or nervous system abnormalities; or sib patients with the disease. Have the following four in three or