Gaucher Disease in Six Filipino Children: a Case Series
Keywords:
Gaucher Disease, acid beta-glucosidase, glucocerebroside, hepatosplenomegaly, erlenmeyer flask deformity, enzyme replacement therapy
Abstract
Six Filipino children with Gaucher disease are presented. All patients manifested marked hepatosplenomegaly, hematologic and skeletal abnormalities. The diagnosis was confirmed through bone marrow aspiration by demonstration of the characteristic ‘Gaucher cells’ and by leukocyte enzyme assay indicating deficient acid beta-glucosidase. Mutation analysis of the GBA gene was done in one patient. Two patients are receiving enzyme replacement therapy.
Published
2008-12-03
How to Cite
1.
Chiong MAD, Estrada SC, Cutiongco-de la Paz EMC, Yaplito-Lee J. Gaucher Disease in Six Filipino Children: a Case Series. Acta Med Philipp [Internet]. 2008Dec.3 [cited 2024Apr.18];42(2). Available from: https://actamedicaphilippina.upm.edu.ph/index.php/acta/article/view/2404
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Section
Articles