Werlin S L, Grand R J, Perman J A, Watkins J B
Pediatrics. 1978 Jul;62(1):47-51.
Wilson's disease, an autosomal recessive disorder of copper metabolism, may defy diagnosis in children. The classical triad of Kayser-Fleischer rings, neurologic dysfunction, and hypoceruloplasminemia may be absent. Patients may be seen initially with acute or chronic hepatitis, hemolytic anemia, or neurologic dysfunction. Guidelines are presented for diagnosis of Wilson's disease based on a review of 25 pediatric and adolescent patients. A high index of suspicion in necessary so that therapy with penicillamine may be begun before irreversible liver or neurologic damage occurs. The prognosis is excellent when diagnosis and treatment are established early.
威尔逊病是一种常染色体隐性铜代谢紊乱疾病，在儿童中可能难以诊断。凯泽-弗莱舍尔环、神经功能障碍和低铜蓝蛋白血症这一典型三联征可能并不存在。患者最初可能表现为急性或慢性肝炎、溶血性贫血或神经功能障碍。本文基于对25例儿科和青少年患者的回顾，提出了威尔逊病的诊断指南。必须保持高度怀疑，以便在不可逆转的肝脏或神经损伤发生之前开始使用青霉胺进行治疗。如果早期确诊并治疗，预后良好。
