IMIGLUCERASE TREATMENT IN GAUCHER’S DISEASE
AbstractGaucher’s disease is an inherited lysosomal storage disorder with a deficiency of the enzymeglucocerbrosidase that manifests with clinical features of anemia, hepato-splenomegaly, skeletaldestruction and organ dysfunction due to the accumulation of glucocerbrosides. There are severaltypes of Gaucher’s disease with varying prognosis and clinical progression of disease. Wedescribe two cases followed at the Aga Khan University, Karachi, Pakistan, with different formsof the disorder. The enzyme Imiglucerase (Cerezyme, Genzyme) has been used to treat Type 1Gaucher disease while the neuronopathic type has been resistant to therapy. We used Imiglucerase60 µg/kg every 2 weeks in one patient with Type 1 Gaucher disease and followed hepatic, splenicvolumes and blood counts. Treatment with Imiglucerase resulted in a decrease in splenic size,reduced requirements for transfusions and an improvement in cardiopulmonary symptoms.Keywords: Gaucher; Imiglucerase
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