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Wilson-Konovalov disease: causes
Last reviewed: 19.10.2021
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Wilson-Konovalov's disease (hepatolenticular degeneration) is a hereditary disease and is transmitted by an autosomal recessive type.
The disease occurs with a frequency of 1:30 000 people. The abnormal gene responsible for the development of the disease is localized in the region of the XIII chromosome. Each patient is a homozygous carrier of this gene. The disease is spread all over the world, but is more common among Jews of Eastern European origin, Arabs, Italians, Japanese, Chinese, Indians and in populations where closely related marriages are frequent.
The cause of changes in the liver and central nervous system, the appearance of the Kaiser-Fleischer ring in the cornea, the damage to the kidneys and other organs is an increased accumulation of copper in the tissues.
With Wilson's disease, the excretion of copper with bile is reduced, while the release of copper in the urine is increased. However, the level of copper in the serum is usually reduced. The amount of ceruloplasmin related to 2- globulins, which provides transport of copper in plasma, is reduced.
Normally, of 4 mg of copper consumed daily with food, about 2 mg is absorbed and the same amount is excreted in the bile, which ensures a balance of copper in the body. With Wilson's disease, the excretion of copper and bile amounts to only 0.2-0.4 mg, which, despite the increase in urinary excretion to 1 mg / day, leads to excessive accumulation in the body.