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Related Experiment Videos

[Enzyme replacement therapy in Fabry's disease].

L Alvarez1, C del Pozo, M Trigueros

  • 1Secci6n de Nefrología, Hospital de Alcoy, Alicante.

Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia
|August 2, 2005
PubMed
Summary

Enzyme replacement therapy for Fabry disease improved kidney function in a patient with chronic renal failure. Treatment reduced disease manifestations and improved renal function after therapy cessation.

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Area of Science:

  • Nephrology
  • Genetics
  • Metabolic Disorders

Background:

  • Fabry disease is a rare genetic disorder causing globotriaosylceramide accumulation.
  • Chronic renal failure is a common complication of Fabry disease.
  • Enzyme replacement therapy (ERT) aims to restore alpha-galactosidase A activity.

Observation:

  • A 56-year-old man with chronic renal failure was diagnosed with Fabry disease.
  • Diagnosis was confirmed by low alpha-galactosidase A activity and genetic mutation.
  • Percutaneous kidney biopsy revealed globotriaosylceramide deposits.

Findings:

  • The patient received enzyme replacement therapy with alpha-galactosidase A.
  • After 18 months of ERT, a repeat kidney biopsy showed persistent renal deposits.

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  • Six months post-therapy, renal function improved, and classic Fabry disease symptoms resolved.

    • Implications:

    • ERT may stabilize or improve renal function in Fabry disease patients.
    • Long-term monitoring is crucial to assess treatment efficacy and disease progression.
    • This case highlights the potential benefits of ERT in managing Fabry nephropathy.