Exploration biologique de la maladie de Wilson

Laboratory diagnosis and monitoring of Wilson desease Wilson disease is an autosomal recessive disorder which is characterised by a copper accumulation in various tissues (mostly liver, brain, kidney and cornea). It presents clinically primarily as liver disease, neurological or psychiatric disease and can be very serious. The gene responsible for the disease, ATP7B, a copper transport located on chromosome 13 enables the passage of copper into the secretary pathway where it is incorporated into ceruloplasmin and facilitates the biliary excretion of copper. The disease is associated with mutations in this copper transporting ATPase. Diagnosis is based on clinical and biological parameters (low ceruloplasmin, Kayser-Fleischer ring, hepatic and neurological patterns of the disease) and confirmed using molecular genetic testing: pedigree analysis and research for disease-causing mutations although this is difficult owing to the numerous variants identified so far. Treatment is efficient if taken lifelong and should be monitored biologically (CBC, urinary copper, creatinine, proteinuria, liver tests).