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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.

Vijay Bohra1, Velu Nair

  • 1Department of Internal Medicine, Armed Forces Medical College, Pune, Maharashtra, India.

Indian Journal of Endocrinology and Metabolism
|September 8, 2011
PubMed
Summary
This summary is machine-generated.

Gaucher's disease (GD), a common lysosomal storage disorder, presents diagnostic challenges due to its varied symptoms. While advanced therapies improve management, access remains limited in resource-poor regions.

Keywords:
Enzyme replacement therapyGaucher's diseaseglucocerebrosidehistiocytesimigluceraseβ-glucosidase

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Area of Science:

  • Lysosomal storage disorders
  • Molecular medicine
  • Genetics

Background:

  • Gaucher's disease (GD) is the most prevalent lysosomal storage disorder.
  • Its complex, multi-organ presentation complicates early diagnosis.
  • GD serves as a key model for molecular medicine's role in disease management.

Purpose of the Study:

  • To review the diagnostic and therapeutic advancements in Gaucher's disease.
  • To highlight the impact of molecular medicine on GD patient outcomes.
  • To discuss the challenges in optimal GD management, particularly in resource-limited settings.

Main Methods:

  • Literature review of Gaucher's disease research.
  • Analysis of diagnostic criteria and clinical presentations.
  • Evaluation of therapeutic strategies, including enzyme replacement and novel gene therapies.

Main Results:

  • Enzyme replacement therapy (ERT) significantly improved GD patient survival since the 1990s.
  • Substrate reduction, chaperone, and gene therapies offer expanded treatment options.
  • Early diagnosis remains challenging due to the disease's heterogeneous manifestations.

Conclusions:

  • Molecular medicine has revolutionized Gaucher's disease management.
  • Despite therapeutic progress, equitable access to optimal care is a global challenge.
  • Further efforts are needed to ensure comprehensive GD treatment in resource-poor countries.