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Renal involvement in Anderson-Fabry disease
Adalberto Sessa1, Mietta Meroni, Graziana Battini
1Nephrology and Dialysis Unit, Vimercate Hospital, Via C. Battisti 23, 20059 Vimercate, Italy. adsess@tin.it
Journal of Nephrology
|May 31, 2003
Summary
Anderson-Fabry disease is a rare genetic disorder causing progressive buildup of glycosphingolipids. Enzyme replacement therapy with alpha-galactosidase A shows promise for treating this condition.
Area of Science:
- Biochemistry
- Genetics
- Nephrology
Background:
- Anderson-Fabry disease (AFd) is an X-linked lysosomal storage disorder.
- It results from deficient alpha-galactosidase A (alpha-gal A) activity, leading to glycosphingolipid (GL) accumulation.
- Clinical manifestations are more severe in males, affecting skin, nerves, eyes, heart, brain, and kidneys.
Observation:
- Kidney involvement in AFd includes GL accumulation in all renal cell types.
- This leads to a spectrum of renal lesions and progressive kidney function impairment.
- Electron microscopy reveals characteristic osmiophilic inclusion bodies in renal cells.
Findings:
- End-stage renal failure (ESRF) is common in males, often leading to death by the fifth decade.
- Dialysis and transplantation do not halt cardiovascular or cerebrovascular complications.
- Enzyme replacement therapy with purified alpha-Gal A appears effective and safe.
Implications:
- Early diagnosis and treatment are crucial for managing AFd complications.
- Enzyme replacement therapy offers a potential therapeutic strategy for AFd.
- Further research is needed to fully understand long-term outcomes of enzyme replacement therapy.