Gaucher Disease in Six Filipino Children: a Case Series

Authors

  • Mary Anne D. Chiong
  • Sylvia C. Estrada
  • Eva Maria C. Cutiongco-de la Paz
  • Joy Yaplito-Lee

DOI:

https://doi.org/10.47895/amp.v42i2.2404

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.

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Published

2008-12-03

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Section

Articles

How to Cite

1.
Gaucher Disease in Six Filipino Children: a Case Series. Acta Med Philipp [Internet]. 2008 Dec. 3 [cited 2025 Apr. 4];42(2). Available from: https://actamedicaphilippina.upm.edu.ph/index.php/acta/article/view/2404

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