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Renal pathological changes in Fabry disease.

A Sessa1, M Meroni, G Battini

  • 1Nefrologia e Dialisi, Ospedale di Vimercate, Italia. adsess@tin.it

Journal of Inherited Metabolic Disease
|January 5, 2002
PubMed
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Fabry disease, a genetic disorder, causes kidney damage due to globotriaosylceramide buildup. Enzyme replacement therapy offers hope for preventing or reversing this progressive renal dysfunction.

Area of Science:

  • Nephrology
  • Genetics
  • Biochemistry

Background:

  • Fabry disease is a rare X-linked lysosomal storage disorder.
  • Deficient alpha-galactosidase A activity leads to globotriaosylceramide (Gb3) accumulation.
  • Kidney involvement is a major complication, affecting renal function.

Purpose of the Study:

  • To describe the renal manifestations of Fabry disease.
  • To outline the progression of kidney damage.
  • To discuss current and emerging management strategies.

Main Methods:

  • Review of clinical and pathological findings in Fabry disease.
  • Ultrastructural analysis of kidney biopsies.
  • Discussion of therapeutic interventions.

Related Experiment Videos

Main Results:

  • Gb3 accumulation in renal cells impairs kidney function, including concentrating ability and potentially causing Fanconi syndrome.
  • Glomerular involvement, particularly podocyte damage, can lead to proteinuria.
  • Progressive renal disease can lead to end-stage renal failure (ESRF).

Conclusions:

  • Fabry nephropathy is characterized by progressive renal dysfunction and potential ESRF.
  • Management involves supportive care and, importantly, enzyme replacement therapy (ERT).
  • ERT holds promise for preventing or reversing renal damage in Fabry disease.