Abstract

MATOS, Catarina et al. Persistently and asymptomatic raised liver enzymes as a form of presentation of Wilson's disease at pediatric age. Nascer e Crescer [online]. 2015, vol.24, n.2, pp.56-63. ISSN 0872-0754.

Background: Wilson's disease is a rare autosomal recessive disorder characterized by a change in the transport of copper in the liver, with progressive accumulation in this and other organs such as brain, kidney and cornea. Phenotypic expression of the disease varies widely and can range from elevated liver enzymes, fatty liver or gallstones in asymptomatic patients, to cirrhosis and fulminant hepatic failure, or disabling neuropsychiatric disease. Aim: To characterize a sample of patients with Wilson´s disease. Patients and Methods: Retrospective survey including children diagnosed with Wilson´s disease between 2002 and 2011 according to the criteria of the European Association for the Study of the Liver (2012). We analyzed family history; age, clinical data, imaging and histology at the time of diagnosis; genetic analysis; treatment and side effects; follow-up and current status. Results: We identified  five  patients. Three had a family history of disease. All were asymptomatic and had maintained raised liver enzymes. No patient had clinical stigmata of chronic liver disease. One female patient had overweight. All were treated with D-penicillamine, withdrawn in two patients because of side effects. Currently all patients remain asymptomatic, without evidence of progression of liver disease, with a median follow-up of 5 years and 3 months. Discussion: Our series show that Wilson´s disease may be present with raised liver enzymes in asymptomatic children. The overweight patient alerts us to screen the disease in overweight/ obese patients with raised liver enzymes and/or steatosis persisting for more than six months after weight loss.

Keywords : Wilson´s disease; D-penicilamine; raised liver enzymes; fatty liver children; copper metabolism.

        · abstract in Portuguese     · text in Portuguese     · Portuguese ( pdf )