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Wilson-Conovalov Disease - Causes
Medical expert of the article
Last reviewed: 04.07.2025
Wilson-Konovalov disease (hepatolenticular degeneration) is a hereditary disease and is transmitted in an autosomal recessive manner.
The disease occurs with a frequency of 1:30,000 of the population. The abnormal gene responsible for the development of the disease is localized in the region of chromosome XIII. Each patient is a homozygous carrier of this gene. The disease is widespread throughout the world, but is more common among Jews of Eastern European origin, Arabs, Italians, Japanese, Chinese, Indians and in populations where consanguineous marriages are common.
The cause of changes in the liver and central nervous system, the appearance of the Kayser-Fleischer ring in the cornea, damage to the kidneys and other organs is increased accumulation of copper in the tissues.
In Wilson's disease, bile copper excretion is decreased, while urinary copper excretion is increased. However, serum copper levels are usually decreased. The amount of ceruloplasmin, an a 2 -globulin that transports copper in plasma, is decreased.
Normally, of the 4 mg of copper consumed daily with food, about 2 mg is absorbed and the same amount is excreted with bile, which ensures the balance of copper in the body. In Wilson's disease, the excretion of copper with bile is only 0.2-0.4 mg, which, despite an increase in excretion with urine to 1 mg/day, leads to its excessive accumulation in the body.