GAUCHER'S DISEASE INITIAL EXPERIENCE WITH ENZYME REPLACEMENT THERAPY
Aabha Nagral*, Priya Nisar**, Rashmi Gapchup***, Bharat Parmar****
Departments of Gastroenterology and Paediatrics, Jaslok & Bhatia Hospitals, Mumbai, D. Mangeshkar Hospital, Pune.*, Departments of Gastroenterology and Paediatrics, Jaslok & Bhatia Hospitals, Mumbai, D. Mangeshkar Hospital, Pune.**, Departments of Gastroenterology and Paediatrics, Jaslok & Bhatia Hospitals, Mumbai, D. Mangeshkar Hospital, Pune.***, Departments of Gastroenterology and Paediatrics, Jaslok & Bhatia Hospitals, Mumbai, D. Mangeshkar Hospital, Pune.****
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 hepatopulmonary 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.
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