G.P. SMIRNOVA^{1, 2}, S.N. DURYAGINA², YU.V. SMORODINA², I.A. KARATAEVA², D.S. IVANOVA¹, YU.S. SEKAREVA¹

 ¹Northern State Medical University, Arkhangelsk

²Arkhangelsk Children’s Clinical Hospital named after P.G. Vyzhletsov, Arkhangelsk

Contact details:

Smirnova G.P. — PhD (Medicine), Associate Professor of the Department of Pediatrics

Address: 51 Troitsky prospekt, 163069 Arkhangelsk, Russian Federation, tel.: +7-902-194-87-39, e-mail: sovas1962@gmail.com

Gaucher disease is an orphan autosomal recessive disorder. The article presents three clinical cases of Gaucher type 1 which can manifest itself with symptoms such as splenomegaly, hepatomegaly, thrombocytopenia, anemia and bone damage, requiring differential diagnosis with hemoblastoses, liver diseases and diseases of the musculoskeletal system. The authors present modern data on the epidemiology, pathogenesis, up-to-date classification and diagnostics of GD. Timely diagnosis and treatment of the disease can improve the prognosis and quality of life of patients.

Key words: children, Gaucher disease, non-neuronopathic type, hepatosplenomegaly, cytopenia, glucocerebrosidase deficiency, enzyme replacement therapy.

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