[Wilson disease].
Wilson disease is an autosomal recessive disorder of copper overload. A principal characteristic of this disease is its wide phenotypic and genotypic variability. Its results from mutations of the ATP 7B gene located on chromosome 13, that encodes a hepatic copper transport protein. More than 300 mutations of this gene have been identified. This protein ensures the transport of copper in the hepatocyte, its incorporation with the apoceruloplasmin and its biliary excretion. The clinical manifestations are heterogeneous as well in their presentation, dominated by the neuropsychiatric and hepatic symptoms, as in the age of the first symptoms. Early recognition and initiation of therapy with chelators or zinc are essential for prognosis. Liver transplantation is indicated in cases with fulminant hepatitis, end-stage liver cirrhosis and should be considered in the therapy resistant neurological forms. A regular follow-up with monitoring of adverse effects of treatment and compliance is essential. Any discontinuation of treatments will involve, within a very variable time, but in constant manner, a reappearance or a reaggravation of the signs. Such relapses are often brutal and can be extremely serious, especially since response to subsequent treatment is often poor.
Woimant
F
F
Service de Neurologie, Paris.
Chaine
P
P
Favrole
P
P
Mikol
J
J
Chappuis
P
P
D001921:Brain / Q000378:metabolism / Q000473:pathology; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D003300:Copper / Q000378:metabolism*; D003937:Diagnosis, Differential; D005838:Genotype; D006527:Hepatolenticular Degeneration / Q000235:genetics / Q000378:metabolism* / Q000628:therapy; D006801:Humans; D008279:Magnetic Resonance Imaging; D001523:Mental Disorders / Q000175:diagnosis / Q000523:psychology; D010641:Phenotype
D003300:Copper