Wilson disease

Definition

Wilson disease is an autosomal recessive disorder characterised by the toxic accumulation of copper, mainly in the liver and central nervous system. It is a rare disease with an estimated incidence in France of between 1/30 000 and 1/100 000 new cases per year. The prevalence is estimated at 1 in 25 000. Symptomatic patients may present with hepatic, neurologic or psychiatric forms. Diagnosis depends the clinical and phenotypic evidence for the disease and on the detection of the associated genetic anomalies. The disease results from mutations in the ATP7B gene on chromosome 13. The discovery of the gene has led to a better understanding of cytosolic copper trafficking and its relationship with ceruloplasmin synthesis. This disease can be efficiently treated by chelation and zinc therapy. Liver transplantation is the recommended therapy for patients with fulminant hepatitis, or in those with relentless progression of hepatic dysfunction despite drug therapy.

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