Abstract
Background. The purpose is to evaluate clinical and morphological data from a patient with Gaucher disease type 1, a rare disease, in a single centre.
Methods. Data from a patient with type 1 Gaucher disease treated in a surgical department of the Republican Specialized Scientific and Practical Medical Center of Oncology and Radiology Fergana Branch Republic of Uzbekistan in 2020 were assessed.
Results. We examined a male patient who was admitted to our center. Did this patient have a tumor of the spleen - lymphoma? liver cirrhosis, ascites, hepatosplenomegaly, moderate anemia, chronic calculous cholecystitis, chronic catarrhal gastroduodenitis. 2–3-degree varicose veins of the esophagus. esophagitis. were performed splenectomy.
Conclusion Gaucher disease is a rare lysosomal storage disease that affects many systems. It causes irreversible morbidity in patients in whom diagnosis is delayed. The main treatment modality was enzyme replacement therapy. Because it is a rare and multisystem disease, with many complications, it is especially important for types 2 and 3 of the disease in children and adolescents, which have an acute course and high mortality. therefore, for early detection and diagnosis in patients with Gaucher disease, molecular genetic research methods should be introduced.