GAUCHER DISEASE IN ASTRAKHAN REGION: CLINICAL PICTURE, FEATURES OF MODERN DIAGNOSTICS AND THERAPY

Abstract

Gaucher disease belongs to the group of hereditary orphandiseases. The frequency of the Gaucher disease in the general population is 1 : 40 000 - 1 : 70 000. Gaucher disease is a rare autosomal recessive disease, therefore it is more often observed in siblings and is caused by a hereditary deficiency of the hydrolytic enzyme - glucocerebrosidase. Red blood cells and white blood cells, which completed their life cycle with physiological apoptosis in ordinary places of phagocytosis (spleen, liver, lungs), are the sites of accumulation of glucocerebrosides. When their lipid membrane is broken down, glucocerebrosides are released. Deficiency of the glucocerebrosidase enzyme leads to the accumulation of glucocerebroside in the cells of phagocytic mononuclear cells, which leads to the formation of specific Gaucher cells. The article analyzes all diagnosed cases of Gaucher disease in the Astrakhan region.