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Year : 2011  |  Volume : 15  |  Issue : 3  |  Page : 182-186

Gaucher's disease


Department of Internal Medicine, Armed Forces Medical College, Pune, Maharashtra, India

Correspondence Address:
Vijay Bohra
Department of Internal Medicine, Armed Forces Medical College, Pune - 40, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2230-8210.83402

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Gaucher's disease (GD) is the most common amongst the various disorders classified under the lysosomal storage disorders. GD is a model for applications of molecular medicine to clinical delineation, diagnosis, and treatment. The multiorgan and varied presentation of the disease makes it a challenge to diagnose GD early. The advent of enzyme replacement therapy in the early 1990s changed the management, and survival, of patients with GD. In addition to this, development of substrate reduction, pharmacological chaperone, and gene therapies has broadened the horizon for this rare disease. However, in resource-poor countries like ours, optimal management is still a distant dream.


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