Wilson's disease, Wilson-Konovalov's disease (Wilson S Disease)

Wilson's disease, Wilson-Konovalov's disease (Wilson S Disease) is a congenital disorder of copper metabolism, which is characterized by insufficient levels of ceruloplasmin in the body, which forms a non-toxic compound with copper under normal conditions. This can lead to the deposition of free copper in liver and brain cells, causing jaundice, cirrhosis, mental retardation, and Parkinson's-like symptoms. A characteristic brownish ring appears on the cornea of ​​the eye, known as the Kayser-Fleischer ring.

Wilson's disease is a rare hereditary disorder that runs in families in an autosomal recessive manner. This means that the disease can only occur in people who inherit two copies of the defective gene from each parent. If a person has only one copy of the defective gene, then they are a carrier of the gene but do not show symptoms of the disease.

Diagnosis of Wilson's disease includes testing blood and urine copper levels, as well as a liver biopsy to determine tissue copper levels. In addition, neurological tests are performed to evaluate brain and eye function.

Treatment for Wilson's disease involves removing excess copper from the body with medications such as penicillamine, trimethoprim and cysteamine. These drugs help bind free copper and remove it from the body through the kidneys. If necessary, other treatments, including a liver transplant, may also be used.

The prognosis of the disease depends on how quickly the diagnosis was made and treatment started. If the disease is detected at an early stage and treatment is started immediately, the prognosis is usually favorable. However, if the disease is not detected in time, it can lead to serious complications, including liver and brain dysfunction.

Wilson's disease is a serious condition that can lead to serious complications if not treated promptly. Therefore, it is important to consult a doctor if you suspect you have this disease. Early detection and treatment of Wilson's disease can help prevent serious complications and improve the prognosis of the disease.

Wilson-Konovalovo disease (Wilson S) is a congenital disorder of copper metabolism. Accumulation of copper in the lysosomes of hepatocytes with the development of cirrhosis and a number of neurological symptoms is characteristic. Caused by insufficient production of copper transport proteins by cerebrosyl and copper vinkelide. It is characterized by dermatopathic and neuropsychiatric symptoms (disc atrophy, psychosis, dementia). To detect the disease, a biopsy of the liver and skin is used for morphological study. Diagnosis is carried out by a hepatologist; recommendations for the treatment of diseases are based on specific metabolism and severe

Wilson-Wilson Konovalov diseases are congenital disorders of copper metabolism. If copper is deposited in various organs and tissues, this is fraught with the development of severe complications - liver cirrhosis and nervous disorders. Medical genetic studies have revealed disorders of the copper-containing enzyme. They

Basic principles of treatment Wilson's disease (WD) type 1 is a hereditary slow progressive disease of the liver and central nervous system caused by impaired copper metabolism. Wilson's disease affects 0.01-0.05% of the population[9]. Deficiency of this element in most cases is inherited in an autosomal recessive manner[11]. Hereditary deficiency of cerulloplasmin and increased copper content is the pathogenetic basis of the syndrome. Laboratory indicators: Increase in γ-glutamate transferase activity by 4-7 times. AST hyperenzymemia occurs in 36% of boys and 27.5% of patients in girls. Decrease in total protein content to 54 g/l in boys 2-4 years old; more than half of the patients. An increase in cholinesterase activity in children is accompanied by a decrease in its values ​​in adults with Gunderson syndrome [7–9]. Morphological signs of the disease are observed in all organs and tissues, but morphologically the most pronounced are dystrophic changes in the nervous system (various degrees of gliosis, single or multiple hemorrhages) [10–15]: damage to the pancreas (with chronic pancreatitis); necrotic changes in neurocytes of the cerebral cortex; microcystic changes in the temporal bone; testicular atrophy; ovarian cystosis; congenital cardiomyopathy and others[4]. **The etiotropic principle of treating the disease is based on two main points