RARE BLOOD DISEASES: GAUCHER DISEASE. CASE DESCRIPTION

Abstract

Gaucher disease is the most common form of hereditary enzymopathies included in the group of lysosomal storage diseases. The disease is based on a hereditary deficiency in the activity of the enzyme glucocerebrosidase (also called glucosylceramidase or acid β-glucosidase) which is involved in the degradation of cellular metabolic products. Gaucher disease is a systemic disease characterized by the same type of clinical manifestations (hepatosplenomegaly, cytopenias, lesions of the skeletal system) but an extremely heterogeneous clinical course. In the article, the authors describe their own clinical case of Gaucher disease in a teenage girl. A long past history of he¬terogeneous clinical symptoms, the complexity of differential diagnosis and interpretation of existing deviations within the course of the single systemic process were noted. The high effectiveness of modern enzyme replacement therapy has been demonstrated.