title: [A primer on Wilson disease for the general practitioner].
abstract: Wilson disease (WD) is an inherited disorder of hepatic copper excretion leading to toxic accumulation of copper in the liver as well as the brain, cornea, and other organs. The defect is due to mutations of the copper-transporting ATPase ATP7B. Clinical manifestations are highly variable and comprise acute liver failure, chronic hepatitis and cirrhosis as well as neurological or psychiatric symptoms. The Kayser-Fleischer corneal ring is pathognomonic but absent in about 50% of patients with hepatic manifestations alone. A high index of suspicion in clinically compatible situations is key, with a combination of laboratory tests allowing the diagnosis of WD. Treatment is based on the use of chelating agents, D-penicillamine or trientine. Liver transplantation should be considered for patients with acute liver failure or advanced cirrhosis.
authors: Service de gastroentérologie et d'hépatologie, CHUV, 1011 Lausanne. Philippe.Hiroz@chuv.ch
authors: Philippe
authors: P
authors: Hiroz
authors: Anca
authors: A
authors: Antonino
authors: Christopher
authors: C
authors: Doerig
authors: Isabelle
authors: I
authors: Pache
authors: Darius
authors: D
authors: Moradpour
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics; D044963:Biopsy, Fine-Needle; D027682:Cation Transport Proteins / Q000235:genetics; D000073840:Copper-Transporting ATPases; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D006801:Humans; D008099:Liver / Q000473:pathology; D009154:Mutation
chemical_list: D027682:Cation Transport Proteins; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases