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Crescentic glomerulonephritis in a patient with heterozygous Fabry's disease
Kanako Shimazu1, Yoshiyuki Tomiyoshi, Shigehisa Aoki
1Department of Internal Medicine, Saga Medical School, Nabeshima 5-1-1, Saga 849-8501, Japan.
Insights
This case review discusses a rare instance of co-occurring Fabry disease and crescentic glomerulonephritis in a 58-year-old woman. The study highlights the diagnostic challenges and progression of kidney failure in this combined condition.
Area of Science:
- Nephrology
- Genetics
- Pathology
Background:
- Fabry disease is a rare genetic lysosomal storage disorder.
- Immune complex crescentic glomerulonephritis is a severe form of kidney inflammation.
Observation:
- A 58-year-old woman presented with symptoms suggestive of kidney disease.
- Initial renal biopsy revealed characteristic features of Fabry disease.
- A subsequent biopsy showed the development of crescentic glomerulonephritis.
Findings:
- Diagnosis confirmed by pathological findings and low alpha-galactosidase activity.
- Electron microscopy identified typical myelin figures in visceral epithelial cells.
- Progressive renal failure correlated with the emergence of glomerular crescents.
Implications:
- This case underscores the importance of considering co-existing renal pathologies.
- Early diagnosis and management are crucial for patients with Fabry disease and GN.
- Understanding combined pathologies aids in predicting disease progression and treatment strategies.
Abstract:
A 58-year-old woman who suffered from a heterozygous Fabry's disease and immune complex crescentic glomerulonephritis (GN) is reviewed. The diagnosis was made on the basis of the pathologic findings and peripheral leukocyte alpha-galactosidase activity. Light microscopy revealed a vacuolization of epithelial cells and electron microscopy showed myelin figures in the cytoplasm of visceral epithelial cells typical of Fabry's disease at the first renal biopsy. During the following 4 months she developed progressive renal failure and a second renal biopsy disclosed the formation of cellular crescents in 7 of 11 glomeruli observed. A rare case of combined Fabry's disease and crescentic glomerulonephritis is discussed.