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Related Experiment Videos

Fabry disease: a morphologic study of 11 cases.

Edgar G Fischer1, Michael J Moore, Donna J Lager

  • 1Department of Laboratory Medicine and Pathology, Mayo Foundation, Rochester, MN, USA. efischer@salud.unm.edu

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc
|June 27, 2006
PubMed
Summary

Fabry disease, a genetic disorder causing kidney damage, shows characteristic myelin-like inclusions in podocytes. This study details renal pathology in 11 patients, highlighting disease progression and distinct deposits.

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Area of Science:

  • Nephrology
  • Genetics
  • Pathology

Background:

  • Fabry disease is a genetic metabolic disorder due to alpha-galactosidase A deficiency.
  • Glycosphingolipid deposition in kidney cells leads to myelin-like inclusions and can cause end-stage kidney disease.
  • No recent renal biopsy series focusing on Fabry disease pathology has been published.

Purpose of the Study:

  • To review clinical and pathological findings in kidney biopsies from patients with Fabry disease.
  • To characterize light and electron microscopy findings, including novel deposits.
  • To analyze disease presentation and progression in relation to sex and age.

Main Methods:

  • Retrospective review of kidney biopsies diagnosed with Fabry disease.
  • Analysis of clinical data, light microscopy, and electron microscopy findings.

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  • Identification and characterization of cellular inclusions and deposits.

    • Main Results:

    • Eleven patients (6 males, 5 females) with Fabry disease were identified.
    • Males presented earlier than females; proteinuria and decreased renal function were common.
    • Light microscopy showed podocyte vacuolization and sclerosis; electron microscopy revealed myelin-like inclusions and unexpected membrane-like deposits associated with GBM duplications in three males.

    Conclusions:

    • Fabry disease kidney pathology is characterized by myelin-like inclusions in podocytes.
    • Novel membrane-like deposits associated with glomerular basement membrane duplications may represent endothelial cell remnants.
    • The study provides updated pathological insights into Fabry disease, emphasizing the need for detailed renal biopsy analysis.