Wilson's disease (hepatocerebral dystrophy, Wilson-Konovalov syndrome) is a rather rare genetic disease that is associated with impaired copper metabolism in the body and is accompanied by damage to the liver and central nervous system.
The first such symptoms were recorded back in 1883. The manifestations of the disease were similar to those of multiple sclerosis, so at that time the disease was called "pseudosclerosis". An English neurologist Samuel Wilson engaged in a deep study of this problem, who in 1912 practically completely described the clinic of the disease.
Wilson's disease: causes
As already mentioned, this disease is genetic in nature and is transmitted from parent to child in an autosomal recessive manner. Violation of copper metabolism is associated with a gene mutation located in the long arm of the thirteenth chromosome. It is this gene that encodes a protein of a specific form of ATPase, which is responsible for the transport of copper and its incorporation into ceruloplasmin.
The reasons for this mutation are not yet fully understood. Canonly to say that Wilson's disease is much more often diagnosed among peoples where marriages between close relatives are common. In addition, this syndrome is much more often diagnosed among men and boys aged 15 to 25.
Wilson's disease: main symptoms
This disease can manifest itself in different ways. As a result of metabolic disorders, copper accumulates in the human body, while affecting the liver and lenticular nuclei of the diencephalon.
Patients may present with either hepatic or neurological symptoms. Sometimes there is also pain in the joints, high fever and body aches. Copper accumulation over time, if left untreated, can lead to cirrhosis of the liver. In some cases, neurological symptoms appear first - changes in behavior and emotional state, as well as tremor. Unfortunately, quite often the signs of the disease are perceived as manifestations of adolescence.
Untreated, copper buildup in the body leads to countless disorders, including diabetes, aneurysms, atherosclerosis, and rickets.
Wilson-Konovalov disease: diagnosis
Diagnosis of this disease must necessarily include a biochemical blood test. During a laboratory study of a blood sample, special attention is paid to the level of copper: it will decrease in the blood, since allmolecules of a substance accumulate in tissues. Sometimes a liver biopsy is also necessary. When studying samples in the liver tissue, an increased amount of copper is determined.
There is another important diagnostic moment. When examining the eyes of patients, brownish rings can be seen on the cornea - this is the so-called Kaiser-Fleischer symptom.
Wilson's disease - Konovalov: treatment
To date, the only effective treatment is cuprenil, on the basis of which all existing drugs are made. This substance reduces the level of copper in the body and removes its excess. It is impossible to get rid of the disease forever. But such therapy allows patients to lead normal, active lives.
Unfortunately, if Wilson's disease is detected too late, then damage to the body, especially nerve tissue, is already irreversible. That is why it is so important to diagnose the disease in time and start treatment.
