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An Immunohistopathologic Study to Profile the Folate Receptor Beta Macrophage and Vascular Immune Microenvironment in Giant Cell Arteritis
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Gaucher's disease.

A L Patel1, W A Shaikh, A K Khobragade

  • 1Department of General Medicine, Grant Medical College, Mumbai, India.

The Journal of the Association of Physicians of India
|July 29, 2009
PubMed
Summary
This summary is machine-generated.

Gaucher's disease, a lysosomal storage disorder, results from beta-glucosidase deficiency causing glucocerebroside accumulation. This case highlights a rare Indian presentation, emphasizing the need for early diagnosis and enzyme replacement therapy.

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Area of Science:

  • Biochemistry
  • Genetics
  • Internal Medicine

Background:

  • Gaucher's disease is a prevalent lysosomal storage disorder.
  • It stems from deficient beta-glucosidase enzyme activity.
  • This leads to glucocerebroside accumulation in macrophage lineage cells.

Observation:

  • Accumulation of glucosylceramide affects multiple organs, including the liver, spleen, bone marrow, lungs, and CNS.
  • Diagnosis is confirmed by serum beta-glucosidase levels below 15% of the mean normal activity.
  • Enzyme replacement therapy is the primary definitive treatment.

Findings:

  • This report details a clinical case of Gaucher's disease in a 21-year-old male.
  • This represents one of the few documented cases of Gaucher's disease in India.
  • The rarity underscores potential underdiagnosis or limited reporting within the region.

Implications:

  • Early diagnosis and intervention are crucial for managing Gaucher's disease.
  • Increased awareness may improve detection rates in India.
  • Further research into genetic variations and treatment accessibility is warranted.