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Fabry Disease: Report of Two Cases with Uncommon Presentation
Pallavi Prasad1, Anshima Singh1, Monika Yachha2
1Department of Pathology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
Indian Journal of Nephrology
|January 27, 2023
Summary
Fabry disease (FD), a rare genetic disorder, can be diagnosed early through kidney biopsies and electron microscopy. Prompt diagnosis is crucial for effective enzyme replacement therapy (ERT) and improved patient outcomes.
Area of Science:
- Nephrology
- Genetics
- Lysosomal Storage Disorders
Background:
- Fabry disease (FD) is a rare lysosomal storage disorder causing globotriaosylceramide (GL3) accumulation.
- Complications include renal, cardiac, and cerebrovascular issues, leading to significant morbidity and mortality.
- Early diagnosis is critical for effective enzyme replacement therapy (ERT).
Observation:
- Two young adult males presented with proteinuria to a nephrology department.
- Kidney biopsies were performed, showing findings suggestive of FD.
- Electron microscopy confirmed the diagnosis of Fabry disease.
Findings:
- Kidney biopsy findings can indicate Fabry disease.
- Electron microscopy is essential for conclusive FD diagnosis.
- Early detection through renal manifestations is possible.
Implications:
- Timely diagnosis of FD enables early intervention with ERT.
- Electron microscopy plays a vital role in confirming FD.
- Identifying FD early can prevent severe organ damage and improve prognosis.
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