Abstract

FIGUEREDO, Diego et al. Experience in the treatment of Gaucher disease with Imiglucerase in the Department of Pediatric Hematology-Oncology at the University Hospital. Pediatr. (Asunción) [online]. 2015, vol.42, n.2, pp.115-119. ISSN 1683-9803.  https://doi.org/10.18004/ped.2015.agosto.115-119.

Introduction: Gaucher disease (GD) is the most common metabolic deposit disorder. It is the result of an autosomal recessive mutation in the gene encoding the glucocerebrosidase enzyme. This enzyme deficiency results in the accumulation of glucosylceramide in the lysosomes of the monocyte macrophage system, leading to the accumulation of glucocerebrosides, causing cellular damage and organ dysfunction. Objectives: To describe the clinical characteristics of patients diagnosed with GD in the Department of Pediatric Hematology-Oncology at University Hospital and evaluate the therapeutic response to Enzyme Replacement Therapy (ERT) with imiglucerase enzyme. Materials and Methods: Cross-sectional study, conducted between January 2005 and December 2013. Results: During the study period 8 patients were diagnosed, 5 of them females. The mean age at diagnosis was 4.5 years. All had splenomegaly, 7 of 8 had hepatomegaly and 5 of 8 had bone involvement at diagnosis. All had hematologic involvement. With ERT, 7 of 8 achieved therapeutic goals. The median time to normalization of hemoglobin was 5 months and for platelets, 11 months. The average time for liver size normalization was 10 months and for spleen size normalization, 14 months. Conclusions: GD has great clinical heterogeneity. The response to ERT is usually excellent, but proper adherence to treatment remains fundamental.

Keywords : Gaucher disease; enzyme replacement; Imiglucerase.

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