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Bilten za hematologiju
2004, vol. 32, iss. 3, pp. 165-168
article language: Serbian
Review Paper
Gaucher disease - type I: Clinical and genetic aspects of the disease and efficacy of enzyme replacement therapy
Suvajdžić-Vuković Nada D.
Univerzitet u Beogradu, Medicinski fakultet, Klinički centar Srbije

Abstract

Gaucher disease (GD), the most prevalent of the genetic lysosomal storage disorders is caused by a severe deficiency of glucocerebrosidase. The accumulation of glucocerebroside in macrophages results in hepatosplenomegaly, cytopenia, bone lesions and variable clinical symptomatology. The most prevalent form of GD is the type I; chronic non-neuronopathic which incidence is 1/100.000-200.000 in the non-Jewish population. The prevalence of the type III (subacute neuronopathic) type is even smaller. Imiglucerase (Cerezyme), a macrophage-targeted recombinant form of the enzyme has proven to be effective in the treatment of type I and III GD. Our aim is to present the clinical aspects of 35 (pts.) with GD and our 2-yr experience with 5 patients. on enzyme replacement therapy (ERT) with Cerezyme. Conclusions: The authors emphasize the role of enzymatic diagnosis and the mutation analysis in GD as well as the role of MRI in the assessment of the bone disease. The efficacy of Cerezyme is shown on 5 patients on ERT.

Keywords

Gaucher disease; genotype; therapy

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