Wilson-Konovalov's disease

General characteristic of a disease

Wilson-Konovalov's disease, it is hepatocellular dystrophy or a hepatolenticular degeneration, - one of a rare and serious genetic illness. It is transferred on autosomal recessively type. And it means that for inheritance of a disease of Wilson-Konovalov both parents of the child have to have a mutant gene of ATP7B in the 13th pair chromosome.

Wilson-Konovalov's disease is shown in the childhood or youthful age and characterized by accumulation of copper in an organism. It leads to a liver failure and development of various neuromental disturbances.

There are forms of a disease of Wilson-Konovalov with preferential damage of a liver, TsNS or the mixed disease forms. At the same time symptoms of damage of a liver at the patient are shown at the age of 10-15 years, and neurologic symptoms of a disease of Wilson-Konovalov form closer by 20 years.

Wilson-Konovalov's disease meets on average in 3 cases on 100 thousand people. The carriage of the mutated gene causing a disease is diagnosed approximately for 0,6% of the population of Earth. The increased probability that both parents will be carriers of this gene, exists in closely related marriages.

Symptoms of a disease of Wilson-Konovalov

In a course of a disease of Wilson-Konovalov it is possible to allocate two stages conditionally: latent and stage of clinical displays of a disease. Up to 5 years, as a rule, the disease does not prove in any way, and only closer by 7 years at the patient the level of liver enzymes – aminotransferases significantly increases.

The onset of the illness of Wilson-Konovalov can be acute and develop from temperature increase, an asthenic syndrome and sharp yellowing of the integuments caused by a copper surplus in an organism. Further the disease progresses to a steatosis (accumulation in a fat liver) and a liver failure.

Neuromental displays of a disease of Wilson-Konovalov are also connected with deposits of copper in an organism. Carry alalias, a weak mimicry, excessive salivation, a tremor, lacks of coordination of movements to them. The intelligence at Wilson-Konovalov's disease completely remains, but at the same time at the patient the impulsive behavior, aggressive reactions and manifestation of numerous phobias are observed.

Along with a liver at Wilson-Konovalov's disease kidneys, heart, bones, joints are surprised. At the last stage of a disease in the absence of adequate treatment the patient fells into a coma.

Diagnosis of a disease of Wilson-Konovalov

The initial stage of diagnosis of a disease of Wilson-Konovalov is physical inspection. Already during it the symptom, typical for this disease, - Kayser-Fleischer's ring appears a probable symptom of a disease. It represents a yellowy-brown inking on the periphery of a cornea of an eye.

The following stage of diagnosis of a disease of Wilson-Konovalov – laboratory blood analyses and the patient's urine. The preliminary diagnosis confirms detection of the increased level of liver enzymes and daily release of copper in urine.

Refer to tool diagnostic methods of a disease of Wilson-Konovalov ultrasonography, MPT and KT. Thanks to them increase in a liver and spleen (gepato-and a splenomegaly), and also destruction of subcrustal neural nodes in a brain is visualized.

Genetic part of diagnosis of a disease of Wilson-Konovalov consists testing of blood of the patient and his immediate family regarding detection of a pathological gene.

Treatment of a disease of Wilson-Konovalov

Treatment of a disease of Wilson-Konovalov symptomatic. Its purpose – reduction of amount of the copper coming to an organism and decrease in already available copper reserves in an organism.

Important part of treatment of a disease of Wilson-Konovalov is the lifelong diet. She assumes a complete elimination from a diet of the food stuffs rich with copper: bean, coffee, chocolate, nuts etc.

Drug treatment of a disease of Wilson-Konovalov is performed by means of the drugs bringing copper out of an organism. For this purpose to the patient D-Penicillaminum, and also zinc salts are appointed. Drug treatment of a disease of Wilson-Konovalov happens according to the individual scheme to gradual increase in doses of drugs.

Therapy component - regular routine inspections of the patient each 6-12 months, control over efficiency of treatment of a disease of Wilson-Konovalov by means of physical inspections, blood tests and urine, monitoring of functions of a liver and kidneys.

At development of a liver failure surgical treatment of a disease of Wilson-Konovalov – transplantation to the patient of a healthy liver is carried out. In case of successful survival of body of the patient completely recovers and does not need lifelong therapy any more.