Hepatocerebral dystrophy

Hepatocerebral dystrophy

Hepatocerebral dystrophy (also known as Wilson-Konovalov disease or Westphalian Wilson disease) is a rare hereditary disease characterized by impaired copper metabolism in the body.

The cause of the disease is a mutation in the ATP7B gene, which encodes a protein involved in the transport and removal of copper from the body. Due to a defect in this protein, copper accumulates in the tissues of the liver, brain and other organs.

Clinical manifestations of hepatocerebral dystrophy are very diverse. Children are more likely to experience symptoms of liver damage, such as hepatomegaly, cirrhosis, and jaundice. In adolescents and adults, neurological disorders come to the fore: movement disorders, personality changes, mental disorders.

Diagnosis is based on determining the copper content in tissues and identifying mutations in the ATP7B gene. Treatment consists of prescribing drugs that bind copper in the body, which prevents its toxic effect. With timely diagnosis and adequate treatment, the prognosis for hepatocerebral dystrophy is relatively favorable.