Degeneration Hepatolenticular

Hepatolenticular degeneration: understanding and consequences

Hepatolenticular degeneration, also known as degeneratio hepatolenticularis or Wilson-Konovalov disease, is a rare genetic disorder of copper metabolism. It is characterized by a violation of copper metabolism in the body, which leads to its accumulation in various tissues, especially in the liver, brain and other organs. This disease has a variety of manifestations and can have a serious impact on the health of patients.

Hepatolenticular degeneration is a hereditary disease and is transmitted in an autosomal recessive manner. This means that in order to develop the disease, you must inherit two copies of the defective gene, one from each parent. The genetic defect disrupts the function of a protein called ATP7B, which is responsible for normal copper metabolism in the body. Without the proper functioning of this protein, copper cannot be properly processed and eliminated from the body, causing it to accumulate.

One of the main organs affected by hepatolenticular degeneration is the liver. Excessive accumulation of copper in the liver leads to the development of hepatocellular failure, which is manifested by jaundice, increased activity of liver enzymes and other symptoms associated with impaired liver function. Without timely treatment, the disease can progress and lead to cirrhosis of the liver.

Other organs such as the brain, nervous system, eyes and kidneys may also be affected due to copper accumulation. This can lead to a wide range of symptoms and complications, including movement disorders, mental changes, dementia, anxiety, depression and other neurological manifestations. In some cases, symptoms can be very varied and difficult to diagnose, making it difficult to identify the disease.

The diagnosis of hepatolenticular degeneration is based on clinical manifestations, genetic studies and biochemical tests to determine the copper content in the blood and other tissues. Treatment involves reducing copper accumulation and maintaining optimal copper levels in the body. This is achieved through the use of drugs called chelating agents, which bind copper and help remove it from the body.

It is important to note that hepatolenticular degeneration, also known as degeneratio hepatolenticularis or Wilson-Konovalov disease, is a rare inherited disease that affects the body's copper metabolism. This condition causes copper to accumulate in various tissues, especially the liver and brain, which can lead to serious health consequences.

Hepatolenticular degeneration is inherited in an autosomal recessive manner, meaning both parents must pass on the defective gene for a child to develop the disease. The genetic defect is associated with a mutation in the ATP7B gene, which is responsible for the transport and metabolism of copper in the body. In the presence of a defective gene, a decrease in enzyme activity occurs, which leads to disruption of copper metabolism and its accumulation.

One of the main organs affected by hepatolenticular degeneration is the liver. Excessive accumulation of copper in the liver leads to the development of hepatocellular failure, which is manifested by an increase in liver size, jaundice, impaired liver cell function and other symptoms of liver failure. Without treatment, the disease can progress and lead to cirrhosis of the liver, which can be fatal.

In addition, hepatolenticular degeneration can have negative effects on the brain and nervous system. Copper accumulation in the brain can lead to a variety of neurological manifestations, such as trembling of the limbs, incoordination, muscle weakness, changes in mood and behavior, and progressive mental disorders. In some cases, hepatolenticular degeneration can lead to the development

Degeneration of the hepatorenticular system (disease) is a congenital malformation characterized by impaired outflow of bile through the biliary tract from the liver and deformation of the anterior mediastinum.

Degeneration can be acute (develops within a day) or chronic (affects several years). The acute form is detected almost immediately after the birth of the child by ultrasound, and the chronic form is diagnosed at the age of 2 weeks to 6 months. However, the disease may not appear until the child is 3-5 years old.