Wilson's disease (hepatocerebral dystrophy,Wilson-Konovalov syndrome) is a rather rare genetic disease that is associated with a violation of copper metabolism in the body and is accompanied by damage to the liver and central nervous system.
For the first time similar symptoms have been fixed yetin 1883. Manifestations of the disease were similar to those of multiple sclerosis, so at that time the disease was called "pseudosclerosis." A profound study of this problem was undertaken by the English neurologist Samuel Wilson, who in 1912 practiced in full the clinic of the disease.
Wilson's disease: causes
As already mentioned, this disease isgenetic character and transmitted from parent to child by autosomal recessive type. The violation of the metabolism of copper is associated with a mutation of the gene located in the long arm of the thirteenth chromosome. It is this gene that encodes a protein of a specific form of ATPase that is responsible for the transport of copper and its incorporation into ceruloplasmin.
The causes of this mutation have not been fully explored yet. One can only 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, whose age ranges from 15 to 25 years.
Wilson's disease: the main symptoms
This disease can manifest itself in different ways. As a result of metabolic disturbances, copper accumulates in the human body, while damaging the liver and lenticular nuclei of the intermediate brain.
In patients, the disease can manifest itself eitherhepatic, or neurologic symptoms. Sometimes there is also pain in the joints, intense heat and body aches. Accumulation of copper with time in the absence of treatment can lead to cirrhosis of the liver. In some cases, the neurological symptoms are manifested first - a change in behavior and emotional state, as well as tremor. Unfortunately, quite often the signs of the disease are perceived as manifestations of the adolescent period.
In the absence of treatment, the copper accumulated in the body leads to an endless number of disorders, including diabetes mellitus, aneurysms, atherosclerosis and rickets.
Wilson-Konovalov's Disease: Diagnosis
Diagnosis of this disease must necessarilyinclude a biochemical blood test. During a laboratory study of a blood sample, special attention is paid to the level of copper: in the blood, it will decrease, since all the molecules of matter accumulate in the tissues. Sometimes a liver biopsy is also necessary. When studying the samples in the hepatic tissue, an increased amount of copper is detected.
There is one more important diagnostic moment. When examining the eyes of patients on the cornea, you can see brownish rings - this is the so-called Kaiser-Fleischer symptom.
Wilson-Konovalov's disease: treatment
To date, the only effectivea means of treatment is the banknut, on the basis of which all existing preparations are made. This substance reduces the level of copper in the body and removes its excess. Get rid of the disease forever can not. But such therapy allows patients to lead a normal, active life.
Unfortunately, if Wilson's disease is detectedtoo late, then damage to the body, especially nervous tissue, is irreversible. That is why it is so important to diagnose the disease in time and start treatment.</ p>