Diseases that develop due to a genetic factor are considered quite rare, but the longer a person lives, the more often they arise in medical practice.
Congenital pathologies are one of the most difficult in the treatment, because in fact before the doctors it becomes a task to deceive nature and correct its mistakes.
Wilson-Konovalov's disease was described in 1912 by the English neurologist Samuel Wilson, who identified a number of symptoms of hepato-cerebral dystonia, cirrhosis of the liver and combined them under the name "progressive lenticular degeneration."
The essence of the disease lies in the fact that the body accumulates an excessive amount of copper, namely, in its most important vital organs - the brain and liver.
In a normal amount, copper is involved in the formation of nerve fibers, bones, the production of collagen and the pigment of melanin. But when the process of copper withdrawal is violated (and this is the essence of the problem of the disease), it can endanger life. Normally, copper is digested with food and is excreted by bile, in the formation of which the liver is actively involved. If the disease is not treated, then the forecast is unfavorable.
Probability of development of Wilson-Konovalov's disease
Out of 100 thousand people in total, doctors find this pathology in only three. It is transmitted autosomally recessively, which means that the probability of its development is in those people whose both parents have a mutant ATP7B gene in the 13th chromosome pair. Genetics estimated that this gene is approximately in 0.6% of the world's population. In a special group of risk children who are born in a close relationship.
Symptoms of Wilson-Konovalov's disease
The disease can manifest itself in childhood or adolescence in the form of neuropsychiatric disorders and liver failure.
Doctors distinguish three forms of the disease:
- the disorder affects only the liver;
- the disturbance affects only the activity of the central nervous system;
- with a mixed form, there are manifestations of both forms.
Also in the disease there are 2 stages, this is a kind of incubation period of Wilson-Konovalov's disease:
- latent - 5-7 years;
- stage of clinical manifestations.
There are two types of disease:
- acute - in 25% suddenly there is jaundice, the temperature rises, liver failure;
- chronic - a slow manifestation of the disease, which occurs in 8-16 years.
When hepatic disorders occur, the following symptoms occur:
- nasal bleeding;
- fatigue and weakness;
- decreased appetite and working capacity;
- stool instability and bloating;
- dull pain in the liver;
- itching;
- increased body temperature;
- jaundice ;
- edema;
- bleeding in the stomach and intestines.
In the case of violations of the central nervous system, the following symptoms occur:
- manifestation of symptoms by the age of 20;
- "Masky face";
- copious salivation;
- speech disorder and coordination of movements;
- tremor;
- athetosis;
- aggression - hysterical and panic conditions.
Among the special signs of the disease - the formation of a brown ring along the edge of the cornea of the eye.
Complications of Wilson-Konovalov's disease
The consequences of Wilson-Konovalov's disease in the absence of treatment are large. There is a violation in many organs and systems:
- skin - increased pigmentation, blue holes on the nails;
- kidneys - stones in the kidneys , swelling of the legs;
- heart - rhythm disturbance;
- joints - are affected in 20-50% of cases;
- bones - their fragility increases, fractures are frequent;
- endocrine system - a delay in sexual development, men may have an increase in the mammary glands, women have a problem with the bearing of the fetus.
Diagnosis of Wilson-Konovalov's disease
The following methods are used for diagnostics:
- inspection with a slit lamp;
- determination of the level of ceruloplasmin;
- determination of copper in daily urine and serum.
Treatment of Wilson-Konovalov's disease
Treatment involves both medication and dietary measures:
- diet with Wilson-Konovalov disease - table number 5 with the limitation of copper to 1 mg per day;
- drug Kuprenil;
- Uniatio;
- vitamin B6.