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[A case of Fabry's disease with chronic renal failure].

T Suzuki1, T Fujino, M Sugasawa

  • 1First Department of Internal Medicine, St. Marianna University School of Medicine, Kanagawa, Japan.

Nihon Jinzo Gakkai Shi
|August 12, 1999
PubMed
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Fabry disease, a genetic disorder affecting alpha-galactosidase (alpha-Gal) activity, can cause progressive renal deterioration. This case highlights potential vascular changes contributing to kidney failure in affected males.

Area of Science:

  • Genetics
  • Biochemistry
  • Nephrology

Background:

  • Fabry disease is an X-linked genetic disorder resulting from deficient alpha-galactosidase (alpha-Gal) activity.
  • This deficiency leads to glycosphingolipid accumulation in various cell types, impacting cardiovascular, renal, and cerebrovascular systems.

Observation:

  • A 36-year-old male with classic Fabry disease symptoms presented with progressive renal deterioration.
  • He exhibited acroparesthesia, angiokeratoma, and hypohidrosis since age 10, diagnosed with Fabry disease at 27 due to low alpha-Gal activity.
  • Renal biopsy revealed glomerular lesions and arterial stenosis, with electron microscopy showing dense deposits in tubules.

Findings:

  • The patient presented with significant renal impairment (serum creatinine 6.9 mg/dl) and proteinuria (3.9 g/day).

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  • Genetic analysis identified a G to A point mutation in exon 1.
  • Pathological findings included sclerotic glomerular lesions, stenotic small renal arteries, and arteriolar changes.

    • Implications:

    • Fabry disease can lead to chronic renal failure, as demonstrated in this case.
    • Degenerative changes in renal vasculature may play a role in the rapid progression of kidney disease.
    • Further research is needed to elucidate the precise mechanisms driving renal deterioration in Fabry disease.