Clinical and Morphological Characteristics and Treatment of Gaucher Disease

Abstract

Gaucher disease is a rare genetic pathology with a frequency of 1/50 000 cases. Types II and III of the disease, manifested in children and adolescents, with severe course, disability and high mortality, require special attention. The aim of the study was to evaluate the clinical and morphological data of a patient with Gaucher disease type 1, a rare disease, in one center.

Methods. The data of a patient with Gaucher disease type 1 who was treated in the surgical department of the Republican Specialized Scientific and Practical Medical Center of Oncology and Radiology of the Ferghana branch of the Republic of Uzbekistan in 2020 were analyzed.

Conclusion. Gaucher disease is a rare lysosomal disease affecting many body systems. It leads to irreversible consequences in patients whose diagnosis is delayed. The main treatment method was enzyme replacement therapy. Since this is a rare and multisystem disease with many complications, it is especially important for the treatment of types 2 and 3 of the disease in children and adolescents, who are acute and have high mortality. Therefore, molecular genetic research methods should be introduced for early detection and diagnosis in patients with Gaucher disease.