肝豆状核变性是先天性钢代谢障碍性疾病，呈常染色体隐性遗传。由于钢代谢的紊乱，并在肝、脑、肾及角膜等处的沉积，临床表现多样，有多系统器官的损害，易误诊。本文对我院近5年来收治的17例患儿进行临床与遗传规律分析如下。临床资料一、17例首诊者中，男5例，女12例，年龄4 Wilson’s disease is a congenital steel metabolism disorders, was autosomal recessive. Due to the disorder of steel metabolism, and in the liver, brain, kidney and cornea deposition, clinical manifestations of diverse, there is more damage to the system organs, easily misdiagnosed. 17 cases of children admitted to our hospital in the past 5 years clinical and genetic analysis as follows. Clinical data A, 17 cases of first diagnosis, 5 males and 12 females, age 4