CLINICAL CASES OF GAUCHER DISEASE IN ADULTS

Abstract

Gaucher disease is a rare pathology, which, however, occurs in the practice of doctors in Ukraine, so information about this disease is relevant.

The main body. According to the classification, Gaucher disease is a lysosomal pathology, which is based on hereditary deficiency of the activity of the enzyme glucocerebrosidase. The most common clinical manifestations of Gaucher disease are enlargement of the size of the spleen and liver, the development of anemia, thrombocytopenia, recurrent bone pain, the development of sudden intense ossalgia attacks and more. Bone damage determines the prognosis of the disease, can lead to severe disability with impaired motor function. Since 1991, the first medication for the treatment of this disease, alglucerase, has emerged. Gaucher disease became the first among the diseases of accumulation, which was exposed to therapy with enzyme substitutes. The article deals with the clinical and morphological manifestations of the disease, therapeutic tactics and prognosis. The analysis of a typical clinical case of Gaucher type I disease in two adult patients who were hospitalized in the hematology department of Ternopil University Hospital, who managed to regress the clinical manifestations of this disease.

Conclusions. Timely diagnosis of Gaucher disease enables the appointment of enzyme replacement therapy with Cerezyme, which can extend the patient's life for many years. The patient should be under the supervision of specialists (pediatricians, hematologists). Long-term treatment of Gaucher disease with ceresim completely stabilizes the pathological process, reduces marked changes in the bones and parenchymal organs, significantly improves the life of patients.