Gaucher disease in six Filipino children: a case series /
Gaucher disease in six Filipino children: a case series /
Mary Anne D. Chiong [and three others]
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.
in: Acta Medica Philippina, 2008 vol 42 (2) pages: 43-47
Gaucher Disease
Glucosylceramidase
Glucosylceramides
Enzyme Replacement Therapy
Hepatosplenomegaly Erlenmeyer Flask Deformity
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.
in: Acta Medica Philippina, 2008 vol 42 (2) pages: 43-47
Gaucher Disease
Glucosylceramidase
Glucosylceramides
Enzyme Replacement Therapy
Hepatosplenomegaly Erlenmeyer Flask Deformity