论文部分内容阅读
Wilson病是一种常染色体隐性遗传病,以铜代谢紊乱为特征,组织内铜持续增高,对肝脏、脑、肾脏、眼和其他器官产生毒性作用。儿童以肝脏损害最常见,表现形式可从单纯转氨酶升高到暴发性肝炎,但神经症状不常见。1956年以来仅有5例成人有肝脏损害表现的Wilson病用青霉胺后出现神经症状的报道,未见导致儿童神经系统损害的报道。现作者报道1例有肝脏损害的儿童Wilson病使用青霉胺后出现神经症状,停药并改用锌治疗后神经症状消失。 患儿,男性,9岁,父母健康,非近亲结婚。因单纯转氨酶升高(约为正常值的两倍)入院。查体仅有肝
Wilson’s disease is an autosomal recessive disorder characterized by disturbances in copper metabolism. Copper continues to increase in the tissues and causes toxic effects on the liver, brain, kidneys, eyes and other organs. Liver damage is most common in children, manifestations can be elevated from simple transaminases to fulminant hepatitis, but neurological symptoms are uncommon. Only five cases of adult Wilson’s disease with liver damage since 1956 reported neurological symptoms of penicillamine, and no reports of neurological damage in children were reported. Now the author reports a case of liver damage in children with Wilson disease after penicillamine neurological symptoms, withdrawal and switch to zinc after treatment of neurological symptoms disappeared. Children, men, 9 years old, healthy parents, non-relatives get married. Due to simple transaminase increased (about twice the normal value) admitted to hospital. Physical examination only liver