Seven patients of Gaucher's disease (5 type 1, 2 type III) were seen over a period of 4 years. The median age of presentation was 12 months. All patients had abdominal distension secondary to spleno-hepatomegaly and failure to thrive. Three had nose bleeds, one had hepato pulmonary syndrome, bone crises and variceal bleeding. Tissue diagnosis was achieved on splenectomy in 2, bone marrow biopsy in 4 and liver biopsy in one patient. The –glucocerebrosidase levels ranged from undetectable to 0.2 mmoles/hour. Osteopenia was present in 5, severe osteoporosis in 2 patients. Enzyme Replacement Therapy (ERT) (glucerebrosidase/imiglucerase, Genzyme) was given to 6 patients in the dose of 60 120 units/kg/2 weekly. All showed an improvement in growth and organomegaly. The abdominal lymph node mass did not resolve in 1 patient. Bone pains and nose bleeds also improved. Two patients succumbed to respiratory complications. The other four patients are doing well on therapy with longest follow up of two and a half years.

ERT is available to patients with Gaucher's disease in India. It is beneficial to a subset of patients, though pulmonary complications may not be prevented.

Pedgastro 2005 - Conference Abstracts.Pediatric Oncall [serial online] 2006 [cited 15 March 2006(Supplement 3)];3. Available from:
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Gaucher_disease_enzyme_replacement_therapy.asp