Wilson disease

A new disease profile is added to our database – Wilson disease. Wilson disease is an autosomal recessive disorder caused by mutations in the ATP7B gene. ATP7B protein deficiency impairs biliary copper excretion, resulting in positive copper balance, hepatic copper accumulation, and copper toxicity from oxidant damage. Clinical manifestations are caused by copper toxicity and primarily involve the liver and the brain. Because effective treatment is available, it is important to make this diagnosis early. Wilson disease may present as hepatitis, cirrhosis, or as hepatic decompensation, typically in the mid- to late-teenage years in western countries, although the age of presentation is quite broad and extends into the fourth decade of life. o receive a full description of this rare disease absolutely free of charge, please click here and send us a request. The profile was written by our consultant in internal diseases – Dr. Nikolay Botushanov, MD.