tailieunhanh - Wilson’s disease in children and adolescents: diagnosis and treatment

In recent years, in other disciplines as well, countries worldwide have been conducting large national studies targeting people. It is thought that each country intends to collect information about the people in these studies as part of its national strategy and accumulate it as intellectual property for the health and medical care of future generations. The United Kingdom, for example, is conducting research to determine the effects of lifestyle, the environment, and genetics, targeting 500,000 adults. [8] Japan launched the BioBank Japan Project and provided approximately 20 billion yen to analyze genes over a period of five years. | Original Article Wilson s disease in children and adolescents diagnosis and treatment Doenga de Wilson em criangas e adolescentes diagnóstico e tratamento Stephania de Andrade Sócio1 Alexandre Rodrigues Ferreira2 Eleonora Druve T. Fagundes3 Mariza Leitão V. Roquete4 Julio Rocha Pimenta5 Lilian de Faria Campoẩ6 Francisco José Penna7 ABSTRACT 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 to years old with a mean age of 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 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. Key-words Wilson s disease hepatolenticular .