title: [Wilson's disease].
abstract: Wilson's disease is an autosomal recessive disorder of copper excess. This illness results from mutations of the ATP7B gene chromosome 13. The discovery of the gene allowed a better understanding of cytosolic copper trafficking its relationship with ceruloplasmin synthesis. Symptomatic patients may present with hepatic, neurologic or psychiatric forms. Clinical and phenotypic evidences provide only presumptive arguments for this disease which can be routinely assessed by molecular analysis. This disease can be efficiently treated by chelation and zinc therapy. Liver transplantation is the therapy to patients with hepatic fulminant course, or in those with relentless progression of hepatic dysfunction in spite of medical therapy.
authors.affiliation: Département des maladies du foie, centre hépato-biliaire et unité Inserm U 785, hôpital Paul-Brousse, Villejuif. jean-charles.duclos-vallee@pbr.ap-hop-paris.fr
authors.forename: Jean-Charles
authors.initials: JC
authors.lastname: Duclos-Vallée
authors.forename: Philippe
authors.initials: P
authors.lastname: Ichaï
authors.forename: Philippe
authors.initials: P
authors.lastname: Chapuis
authors.forename: Micheline
authors.initials: M
authors.lastname: Misrahi
authors.forename: France
authors.initials: F
authors.lastname: Woimant
mesh_terms: D006527:Hepatolenticular Degeneration / Q000175:diagnosis / Q000628:therapy; D006801:Humans