Wilson-Konovalov disease
General characteristics of the disease
Wilson – Konovalov disease, also known as hepatocellular dystrophy or hepatolenticular degeneration, is one of the rare and severe genetic diseases. It is transmitted in an autosomal recessive manner. This means that for the inheritance of Wilson-Konovalov disease, both parents of the child must have the mutant ATP7B gene on the 13th paired chromosome.
Wilson-Konovalov disease manifests itself in childhood or adolescence and is characterized by the accumulation of copper in the body. This leads to liver failure and the development of various neuropsychiatric disorders.
There are forms of Wilson-Konovalov's disease with predominant damage to the liver, central nervous system, or mixed forms of the disease. At the same time, the symptoms of liver damage in a patient appear at the age of 10-15 years, and neurological signs of Wilson-Konovalov disease are formed closer to 20 years.
Wilson-Konovalov's disease occurs on average in 3 cases per 100 thousand people. Carriage of the mutated gene that causes the disease is diagnosed in approximately 0.6% of the world's population. An increased likelihood that both parents will be carriers of this gene exists in closely related marriages.
Symptoms of Wilson-Konovalov disease
In the development of Wilson-Konovalov's disease, two stages can be conditionally distinguished: latent and the stage of clinical manifestations of the disease. Up to 5 years, as a rule, the disease does not manifest itself in any way, and only closer to 7 years in a patient the level of liver enzymes - aminotransferases significantly increases.
The onset of Wilson-Konovalov's disease can be acute and develop with fever, asthenic syndrome and a sharp yellowing of the skin caused by an excess of copper in the body. Further, the disease progresses to steatosis (accumulation of fat in the liver) and liver failure.
The neuropsychiatric manifestations of Wilson-Konovalov disease are also associated with copper deposits in the body. These include speech disorders, weak facial expressions, excessive salivation, tremors, and impaired coordination of movements. Intelligence in Wilson-Konovalov's disease is fully preserved, but at the same time, the patient has impulsive behavior, aggressive reactions and the manifestation of numerous phobias.
Along with the liver, with Wilson-Konovalov disease, the kidneys, heart, bones, joints are affected. At the last stage of the disease, in the absence of adequate treatment, the patient falls into a coma.
Diagnostics of the Wilson-Konovalov disease
The initial stage in the diagnosis of Wilson-Konovalov disease is a physical examination. Already during it, a likely symptom of the disease turns out to be a symptom typical of this disease - the Kaiser-Fleischer ring. It is a yellow-brown outline around the periphery of the cornea of the eye.
The next stage in the diagnosis of Wilson-Konovalov disease is laboratory tests of the patient's blood and urine. The preliminary diagnosis confirms the detection of an increased level of hepatic enzymes and daily excretion of copper in urine.
The instrumental methods for diagnosing Wilson-Konovalov disease include ultrasound, MRI and CT. Thanks to them, an enlargement of the liver and spleen (hepato- and splenomegaly), as well as the destruction of subcortical neural nodes in the brain, are visualized.
The genetic part of the diagnosis of Wilson-Konovalov disease is testing the blood of the patient and his immediate family for the detection of a pathological gene.
Treatment of Wilson-Konovalov disease
Treatment of Wilson-Konovalov disease is symptomatic. Its purpose is to reduce the amount of copper entering the body and to reduce the existing reserves of copper in the body.
An important part of the treatment for Wilson-Konovalov disease is a lifelong diet. It involves the complete elimination of copper-rich foods from the diet: legumes, coffee, chocolate, nuts, etc.
Medical treatment of Wilson-Konovalov disease is carried out with the help of drugs that remove copper from the body. For this purpose, the patient is prescribed D-penicillamine, as well as zinc salts. Drug treatment of Wilson-Konovalov disease occurs according to an individual scheme with a gradual increase in drug doses.
An integral part of therapy is regular preventive examinations of the patient every 6-12 months, control over the effectiveness of treatment of Wilson-Konovalov disease with the help of physical examinations, blood and urine tests, monitoring of liver and kidney functions.
With the development of liver failure, surgical treatment of Wilson-Konovalov's disease is performed - transplantation of a healthy liver to the patient. In the case of successful organ survival, the patient recovers completely and no longer needs lifelong therapy.
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The information is generalized and provided for informational purposes only. At the first sign of illness, see your doctor. Self-medication is hazardous to health!
