Wilson-Konovalov's Disease: Causes, Symptoms and Treatment

Wilson-Konovalov disease is a rare disease that is caused by excessive accumulation of copper in the body due to its slow and incorrect excretion and as a result of its deposition in tissues and internal organs (in the liver, cornea of the eyes, kidneys, brain). Causes of the disease

This disease is caused genetically. Wilson-Konovalov's disease at the heart of its clinical manifestations is a violation of the copper exchange processes. In a normal body, most of this chemical element, absorbed into the blood from the intestine, is excreted in the urine and bile. Wilson-Konovalov's disease causes a violation of the metabolic process of copper in the liver (synthesis of ceruloplasmin-a copper-binding protein) and excretion of it with bile. As a consequence, the level of unbound copper significantly increases in blood.

Wilson-Konovalov's disease is inherited by the fathers in an autosomal recessive type. The percentage of diseases is much higher in countries and regions where marriages between relatives are traditionally accepted. The frequency of generic cases of this disease exceeds 60%. There are three genotypic types of the disease:

• Western . Begins in 10-16 years with a lesion of the liver. Then there is a neurological symptomatology.
• Slavic . Begins, as a rule, in 20-35 years. In this case, a relatively small lesion of the liver and neurological symptoms are observed.
• Atypical . It is manifested only by a decrease in the level of cerulplasmine. Clinical signs of the disease are not observed.

The consequences of copper accumulation in various internal organs

Accumulation of copper in the kidneys leads to the development of glomerulonephritis and as a consequence to the violation of the processes of filtration of proteins and ions. The result is excessive excretion from the body with urine. When copper accumulates in the corneas of the eye, this does not affect the motor function of the eyeball and does not lead to visual impairment, but causes a discoloration of the circles on the iris. This is one of the characteristic features by which Wilson-Konovalov's disease is easily determined. Photos on which the yellowish circles on the iris are visible to the naked eye, speak for themselves. Copper, accumulating in the brain, leads to the appearance of a whole list of neurological symptoms. Accumulation of it in the liver causes damage to this organ, which leads to violations of its functions, increased intoxication in the body and cirrhosis.

Wilson-Konovalov's disease: symptoms

The initial manifestation of this disease can be blurred speech and difficulty in performing small movements. There is also a trembling of the head and upper limbs during exercise and at rest, as well as stiffness of muscles and movements. The disease proceeds progressively, with alternating exacerbations and remissions. The lethal outcome is most often observed in children with hepatic disease.

Treatment

To treat this disease apply drugs that normalize the exchange of copper in the body. They are prescribed only on an individual basis, depending on the form and activity of the disease. Doses are increased simultaneously with the control of copper in the blood. These drugs are heavily carried by the body and have strong side effects, so together with them are prescribed fortifying agents and vitamins. Patients are encouraged to adhere to a diet that excludes from the diet products with a high content of copper (fish, chocolate, mushrooms, liver, cocoa).