Maladie de Wilson

Abstract

AbstractWilson’s disease is a autosomal recessive inherited disorder that causes progressive copper overload. The ATP7B gene carried on chromosome 13 encodes an intracellular copper transporter ATP7B protein that allows cellular excretion of excess copper. In Wilson’s disease, the functional deficiency of ATP7B causes a failure in the elimination of copper from the bile, which then accumulates in the liver and is then released in free form into the bloodstream. Wilson’s disease is therefore an initially hepatic disorder which can progress to multisystem involvement with an accumulation of copper in the brain, eye, kidney, etc. if it is not diagnosed early. The first symptoms are most often hepatic in children and neurological in adults. The diagnosis is made on a bundle of clinical, biological and radiological arguments. Interpretation of the cupric balance, typically associating a decrease in ceruloplasminemia and total cupremia with an increase in 24-hour urinary copper excretion, can be difficult, justifying the determination of the free or exchangeable copper. The ratio of exchangeable copper/total copper or REC (relative exchangeable copper) is an excellent diagnostic biomarker. Molecular biology can confirm the diagnosis in 98 % of cases. The treatments combine a copper low diet, copper chelators or zinc salts. Liver transplantation is the treatment for fulminant liver forms and decompensated cirrhosis. This rare genetic disease has a good prognosis if treatment is started early and continued all lifelong. It is therefore important to know the clinical manifestations of the disease and the diagnostic tests in order to evoke it quickly and to then ensure regular clinical and laboratory monitoring of patients.