DOI: https://doi.org/10.22141/2308-2097.3.57.2015.81538

Gaucher’s Disease (the Modern View on the Problem)

V.B. Yagmur

Abstract


The article presents a literature review of the most common lysosomal storage diseases — Gaucher’s disease. This pathology is caused by a inherited deficiency in glucocerebrosidase that cleaves cerebrosides. Decrease glucocerebrosidase results in the sphingolipids accumulation in the reticuloendothelial system and the health cells are substituted by defective ones. We describe the clinical manifestations of the three forms of the disease, its diagnosis algorithms and advanced specific treatment.


Keywords


Gaucher’s disease; glucocerebrosidase; genetics; enzyme replacement therapy

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