肝豆状核变性是一种常染色体隐性遗传性疾病,主要是铜代谢障碍引起铜离子向全身各内脏器官沉积。由于铜离子沉积于各脏器的程度因人而异,症状亦迥异多样,故易被延误诊断和治疗。我院统计272例肝豆状核变性的住院病人中,120例(44.11％)曾分别在内、儿、神经及精神科被长期误诊,兹分析如下。一、一般资料(一)性别与年龄男71例,女49例;发病年龄最小6岁,最高54岁,10岁以下9例,11～40岁106例(88.33％),40岁以上5例。(二)诊断依据 272例病人除有肝脏肿大、或/及锥体外系症状和角膜色素环外,亦均具有铜氧化酶低于0.2活力单位,尿铜超过100μg/24h等实验 Wilson’s disease is an autosomal recessive disease, mainly due to copper metabolism caused by the deposition of copper ions to the body of various organs. Due to the deposition of copper ions in various organs vary from person to person, the symptoms are also diverse and diverse, it is easy to be delayed diagnosis and treatment. Statistics of 272 cases of hepatolenticular degeneration hospitalized patients, 120 cases (44.11%) were in, children, neurological and psychiatric were long-term misdiagnosis, it is analyzed as follows. First, the general information (a) sex and age, 71 males and 49 females; the youngest minimum age of 6 years, up to 54 years old, 10 years of age in 9 cases, 11 to 40 years in 106 cases (88.33%), 40 years of age in 5 cases . (B) based on the diagnosis of 272 patients with the exception of liver enlargement, and / or extrapyramidal symptoms and corneal pigment ring, also have less than 0.2 activity units of copper oxidase, urine copper over 100μg / 24h and other experiments