IMIGLUCERASE TREATMENT IN GAUCHER’S DISEASE

Uzma Shah, Naila Nadeem, Yousef Husen, Zehra Fadoo

Abstract


Gaucher’s disease is an inherited lysosomal storage disorder with a deficiency of the enzyme
glucocerbrosidase that manifests with clinical features of anemia, hepato-splenomegaly, skeletal
destruction and organ dysfunction due to the accumulation of glucocerbrosides. There are several
types of Gaucher’s disease with varying prognosis and clinical progression of disease. We
describe two cases followed at the Aga Khan University, Karachi, Pakistan, with different forms
of the disorder. The enzyme Imiglucerase (Cerezyme, Genzyme) has been used to treat Type 1
Gaucher disease while the neuronopathic type has been resistant to therapy. We used Imiglucerase
60 µg/kg every 2 weeks in one patient with Type 1 Gaucher disease and followed hepatic, splenic
volumes 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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