Wilson's disease: an analysis of 28 Brazilian children

Abstract

OBJECTIVES:Clinical-laboratory and evolutionary analysis of twenty-eight patients with Wilson's disease.METHODS:Twenty-eight children (twelve females and sixteen males) with Wilson's disease were evaluated retrospectively between 1987 and 2009, with a follow-up of 72 months (1 – 240 months). The clinical, laboratory, and histologic features at diagnosis were recorded at the end of the study.RESULTS:The median age at diagnosis was 11 years (2 – 18 years). Twelve patients were asymptomatic, seven had hepatitis symptoms, five had raised aminotransferase levels, three had hepatomegaly associated with neurological disorders, one had fulminant hepatitis with hemolytic anemia, and six patients presented with a Kayser-Fleischer ring. A histological analysis revealed that six children had chronic hepatitis, seven had cirrhosis, two had steatosis, one had portal fibrosis, and one had massive necrosis. The treatment consisted of D-penicillamine associated with pyridoxine for 26 patients. Adverse effects were observed in the other two patients: one presented with uncontrollable vomiting and the other demonstrated elastosis perforans serpiginosa. At the end of the study, all 26 treated patients were asymptomatic. Twenty-four of the patients were treated with D-penicillamine and pyridoxine, and two were treated with trientine and zinc sulfate. A liver transplant was performed in one patient with fulminant hepatitis, but the final patient died 48 hours after admission to the intensive care unit.CONCLUSIONS:Family screenings associated with early treatment are important in preventing Wilson's disease symptoms and potentially fatal disease progression. The study suggests that Wilson's disease must be ruled out in children older than two years presenting with abnormal levels of hepatic enzymes because of the heterogeneity of symptoms and the encouraging treatment results obtained so far.

A Neglected Case of Wilson Disease

“…There is no single diagnostic test for WD and diagnosis is usually made by lab tests following clinical suspicions (1). Diagnosis is based on low serum copper and ceruloplasmin levels (< 20 mg/dL; immunoassay), high copper concentrations in the liver (> 250 mcg/g dry weight), high copper excretion in the 24-hour urine (> 100 mcg/day), and conducting a penicillamine challenge test (urinary copper excretion > 1,600 or 1,057 mcg/day) (6) if doubt remains, tests should be repeated at a later stage (2).…”

“…Although this disease has been known for almost a century, an exact pathogenesis of the disorder remains unclear (2). A mutation in ATP7B gene that encodes an essential protein for transportation of the cooper is suggested to play a role in WD (1). It is characterized by a disturbance in copper metabolism that leads to copper overload in different tissues of the body (1,3).…”

“…A mutation in ATP7B gene that encodes an essential protein for transportation of the cooper is suggested to play a role in WD (1). It is characterized by a disturbance in copper metabolism that leads to copper overload in different tissues of the body (1,3). The overall clinical picture varies from asymptomatic to acute liver failure (1).…”

“…Wilson's disease (WD), as a progressive hepatolenticular degeneration, is a rare autosomal recessive disease, which affects approximately 1 in 30,000 live births (1,2). Although this disease has been known for almost a century, an exact pathogenesis of the disorder remains unclear (2).…”

“…It is characterized by a disturbance in copper metabolism that leads to copper overload in different tissues of the body (1,3). The overall clinical picture varies from asymptomatic to acute liver failure (1). Systemic accumulation of copper causes typical phenotypes that include progressive liver damage, neurological deficits, psychiatric illnesses, presence of Kayser-Fleischer (KF) rings, renal tubular disorders, arthropathy, cardiomyopathy, and hypoparathyroidism (2).…”