Abstract
Hepatosplenomegaly occurs in many diseases. Physicians of various specialties often encounter it in their practice. It is the main clinical symptom in a number of rare (orphan) diseases and in Gaucher disease, in particular. A detailed description of this hereditary disease related to lysosomal storage diseases is presented in the Article as well as its modern diagnostic and treatment features. A clinical case of a six y/o pediatric patient with hepatosplenomegaly who was diagnosed with Gaucher disease type 1 based on a complex of laboratory and instrumental examination methods and prescribed with pathogenetic enzyme replacement therapy is observed.
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