Revista Paulista de Pediatria
Print version ISSN 0103-0582
SOCIO, Stephania de Andrade et al. Wilson's disease in children and adolescents: diagnosis and treatment. Rev. paul. pediatr. [online]. 2010, vol.28, n.2, pp. 134-140. ISSN 0103-0582. http://dx.doi.org/10.1590/S0103-05822010000200002.
OBJECTIVE: To describe clinical symptoms, laboratory findings at diagnosis and treatment of children and adolescents with Wilson's disease. METHODS: This is a descriptive and retrospective study of a series of 17 children and adolescents with Wilson's disease, assited at the Pediatric Hepatology Ambulatory of the Hospital das Clínicas of Universidade Federal de Minas Gerais, Brazil, from 1985 to 2008. Data were collected by revision of medical charts and during clinical follow-up. RESULTS: Patients were 2.8 to 15.1 years old, with a mean age of 8.8±0.9 years. The disease main presentation was hepatic (53%), followed by the asymptomatic form, diagnosed by family screening. The Kayser-Fleischer ring was observed in 41% of the patients. The ceruloplasmin was altered in 15 out of 17 patients, and the urinary copper varied from 24 to 1000mcg/24h (median: 184mcg/24h). The treatment was stablished with D-penicillamine in all cases. Slight side effects were observed in five children, with no need to interrupt or change medication. Clinical and laboratory responses to treatment, with normalization of aminotransferases levels, were shown in 14 patients after a median of 10.7 months. Although treated, three patients died (one due to fulminant hepatitis and two due to severe hepatic failure). CONCLUSIONS: Wilson's disease is rare in the pediatric group. In children, the main presentation is the liver disease. The diagnosis can be established by reduced ceruloplasmin levels and elevated copper excretion in the 24-hour urine, but it demands high suspicion level. There are good tolerance and response to medical treatment.
Keywords : Wilson's disease; hepatolenticular degeneration; child; hepatic insufficiency.