Gauchers Disease: A Case Report
Journal Title: IOSR Journal of Dental and Medical Sciences (IOSR-JDMS) - Year 2017, Vol 16, Issue 3
Abstract
Gaucher disease is the commonest lysosomal storage disorder caused due to deficiency of enzyme Glucocerebrosidase. The overall incidence is about 1: 40000. The main clinical features are organ enlargement (liver and spleen), bone marrow infiltration and skeletal involvement leading to bone pain and pathological fractures. Pancytopenia or thrombocytopenia is the commonest clinical presentation secondary to hypersplenismin type I gauchers disease. Enzyme replacement therapy (ERT) has revolutionized the treatment of Gaucher disease .Symptomatic patients of GD 1 and GD 3 merit treatment. ERT is most effective in reducing the liver and spleen size and the bone symptoms, and improving blood counts. This article describes a case of Gauchers disease in a 19 year old female patient.
Authors and Affiliations
Dr. Ketan Mhatre, Dr. S Mahore, Dr. K Bothale, Dr. A Patrikar
Keywords
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- EP ID EP593507
- DOI 10.9790/0853-160303107110
- Views 57
- Downloads 0
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