Wilson-Konovalov's disease - Causes, symptoms and treatment. MF.
A variety of behavioral disorders( attention disorders, hyperactivity, emotional imbalance, hypersexuality, uncriticality) that are often written off by their parents and doctors for "transitional age" or, scientifically, puberty, which occurs from 12 to 16 years, are often among young peoplein girls and from 13 to 17-18 years in boys.Х orosh it would end with "growth sickness", but - time goes by, and parents pay attention that their "child" symptoms do not pass, but intensify. The progress in school is declining, and even the parents are becoming more and more difficult to get in touch with their beloved child-he is rude, foul language, often breaks down into screams, leaves home. .. Jitter( tremor), coordination of movements, bizarre movements in the limbs( dystonia), it becomes an indistinct speech. If you find these symptoms the surest way is to the neurologist, but often the search for this path takes too much time.
The disease was first described in 1912 by A.K.Wilson, in our country - NA.Konovalov. In 1993, a pathological gene was identified, leading to the development of the disease.
Wilson-Konovalov's disease is associated with a mutation leading to a decrease in the concentration in the blood of the carrier protein, ceruloplasmin copper. As a result, the normal distribution of copper is disrupted - too much is accumulated in the body, and the liver and the intermediate brain( the so-called lenticular nuclei) suffer the most from this.
Symptoms of Wilson-Konovalov's disease
Two variants of the debut of Wilson-Konovalov's disease are considered: hepatic( cirrhosis develops) and neurologic( primary lesion of basal ganglia, cerebral cortex and cerebellum, neurologic manifestations are represented by tremor, choreiform movements of limbs, grimacing, ataxia, candevelop epileptic seizures).In the first variant, the disease usually starts at 11 years, with the second variant at 19, but occasionally the disease can manifest itself in the 6 decade of life. Liver and neurologic disorders occur approximately at the same frequency and in the absence of treatment, both types of pathology develop with time. The disease in the initial stages can only be manifested by mental disorders - the patients can be treated for a long time and without results by a psychiatrist. The debut of the disease is also possible with joint damage, fever, hemolytic anemia.
It should be taken into account that the excess copper content in the patient's body leads to the development of liver cirrhosis, impaired glucose tolerance( diabetes mellitus), pathological expansion in a vessel( aneurysm), the development of rickets like the Fanconi syndrome, the accelerated development of atherosclerosis. The disease should be distinguished from multiple sclerosis and the juvenile form of Huntington's chorea.
Etiology of Wilson-Konovalov's disease
The disease is associated with a mutation leading to a decrease in the concentration in the blood of the carrier protein-ceruloplasmin copper. As a result, the normal distribution of copper is disrupted - too much is accumulated in the body, and the liver and the intermediate brain( the so-called lenticular nuclei) suffer the most from this.
Causes of Wilson-Konovalov's disease
The disease is associated with a mutation leading to a decrease in the concentration in the blood of the carrier protein, ceruloplasmin copper. As a result, the normal distribution of copper is disrupted - too much is accumulated in the body, and the liver and the intermediate brain( the so-called lenticular nuclei) suffer the most from this.
Diagnosis of Wilson-Konovalov's disease
Diagnosis of Wilson-Konovalov's disease is based on the determination of the content in the blood of ceruloplasmin, copper and zinc. There is a diagnostic paradox, when analyzing blood, a reduced concentration of copper is detected, this is due to the fact that copper, devoid of the carrier protein, ceruloplasmin, quickly leaves in the tissue. Zinc concentration is also of some importance, with effective treatment, its concentration in the blood rises. In connection with liver and kidney damage, an increase in liver enzymes, aminoaciduria( a condition associated with increased release of amino acids in urine due to kidney damage due to accumulation of copper in them) can be observed. In the study of liver biopsy, an increased content of copper and signs of cirrhosis are found).An important diagnostic feature is the ophthalmologist's disruption of bilateral brownish corneal rings, the origin of which is associated with the deposition of copper. This is the so-called Kaiser Fleischer symptom - it is found in practically all patients with Wilson-Konovalov's disease.
Treatment of Wilson-Konovalov's disease
Many years after the discovery of the disease, before a remedy was found to combat this disease - a drug that reduces the concentration of copper in the body - D-penicylamine( kurenenil).
Lifestyle with Wilson-Konovalov's disease
If med-reducing therapy is started in the early stages of the disease with minor manifestations of neurologic deficits, the condition of patients is completely normalized;in neglected cases, unfortunately this does not happen.
The monitoring of the concentration of ceruloplasmin, copper and zinc in the patient's blood should be performed several times a year. It is also necessary to perform a general and biochemical blood test, the observation of a neurologist and therapist.
Continuous administration of the drug provides a normal, full-fledged standard of living in most patients. Most people continue to work, lead an active life. Outwardly such a person is no different from a healthy person. Although possible side effects associated with therapy: nausea, nephrotic syndrome, myasthenia gravis arthropathy, pemphigus, various neurological disorders, lupus-like syndrome.
Timely diagnosis and treatment in patients with Wilson-Konovalov syndrome is a guarantee of a long and fruitful life.