Wilson’s Disease

Wilson’s disease is an autosomal recessive disorder, caused by a defect of the ATP-ase copper transporting -polypeptide (ATP7B) gene, located on chromosome 13. It is characterized by copper deposition in the liver, cornea, central nervous system, kidney, and erythrocytes, as a result of the absence or dysfunction of the copper-transporting P-type adenosine triphosphatase, and leads to impaired biliary copper excretion and disturbed holoceruloplasmin synthesis. The Wilson's disease protein is predominantly present in trans-Golgi vesicles in the pericanalicular area, whereas relatively small amounts of the protein appear to localize in the canalicular membrane. As a result, copper first accumulates in the liver, and then, when available sites are saturated, copper increases in the systemic circulation and accumulates in extrahepatic tissues &. The overall incidence of the disease is of 1 per 200.000 newborns &.
Clinical manifestations of the disease rarely appear before the age of 3 years. Wilson’s disease in children mainly affects the liver, ranging from fulminant hepatic failure to chronic hepatitis or cirrhosis. Adults usually manifest symptoms of neurological disease.
Liver histological findings may vary with the severity of the disease from fatty infiltration with glycogen-filled hepatocyte to peri-portal fibrosis, inflammatory cell infiltrate, and macronodular cirrhosis.
Wilson’s disease diagnosis may be problematic and is based upon clinical, laboratory and histological evaluation. The treatment of choice is based on administration of D-Penicillamine as a copper chelating agent. In case of serious or persistent adverse effects of penicillamine, others copper chelators, such as trientine or elemental zinc, can be used. 
Liver transplantation is indicated in patients exhibiting decompensated advanced liver disease and in patients unresponsive to medical treatment. The first case of successful liver transplantation for Wilson’s disease was reported by Dubois and associates in 1971 &. Liver transplantation is now considered the treatment of choice of Wilson’s disease with fulminant hepatic failure of decompensated chronic disease. After transplantation an initial period of cupruresis is followed by normalization of serum copper, ceruloplasmin and liver copper content &; neurological impairment, if present, completely recovers &.