Abstract

LAVAUT SANCHEZ, Kalia et al. Clinical, biochemical and molecular features and the treatment of two patients presenting with Gaucher's disease. Rev Cubana Hematol Inmunol Hemoter [online]. 2010, vol.26, n.1, pp. 54-61. ISSN 1561-2996.

Gaucher's disease is a hereditary entity related to sphingolipids metabolism with an autosomal recessive hereditary pattern determined by a failure of the acid b-glucosidase enzyme. In present paper authors present the case of two pediatric patients (1 female and 1 male) both presenting with anemia and hepatosplenomegaly by ultrasound (US). Bone marrow aspirate showed infiltration by storage cells, low levels of enzymatic activity of b-glucocerebroside and a molecular diagnosis of potential known mutations confirmed the disease in both patients, who are under treatment with substitutive enzymatic therapy (imiglucerase) with a favorable course in clinical and humoral features.

Keywords : Gaucher's disease; substitutive enzymatic therapy; b-glucosidase; imiglucerase.

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