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. 2011 Jul;15(3):182-6.
doi: 10.4103/2230-8210.83402.

Gaucher's disease

Vijay Bohra  1 , Velu Nair
Affiliations

Gaucher's disease

Vijay Bohra et al. Indian J Endocrinol Metab. 2011 Jul.

Abstract

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.

Keywords: Enzyme replacement therapy; Gaucher's disease; glucocerebroside; histiocytes; imiglucerase; β-glucosidase.

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Conflict of interest statement

Conflict of Interest: None declared.

Figures

Figure 1
Figure 1
X pelvis showing osteolytic lesion of proximal end of the right femur
Figure 2
Figure 2
Photomicrograph of bone marrow showing PAS positive foamy histiocytes with crinkled paper appearance
See this image and copyright information in PMC

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