Identification of Fabry's disease by the screening of alpha-galactosidase A activity in male and female hemodialysis patients

Clin Nephrol. 2005 Oct;64(4):281-7. doi: 10.5414/cnp64281.


Background: Although previous studies reported that the prevalence of Fabry's disease was 0.16 - 1.2% in hemodialysis (HD) patients based on measurement of a-galactosidase A (alpha-Gal A) activity, few reports detected female patients by the screening for alpha-Gal A. Here we determined the prevalence of Fabry's disease not only in male but also in female HD patients by measuring alpha-Gal A.

Methods: Plasma alpha-Gal A was measured in 696 consecutive males (n = 401) and females (n = 295) on HD. Patients with low plasma alpha-Gal A were examined for leukocyte alpha-Gal A, and patients with low leukocyte alpha-Gal A underwent alpha-Gal A gene sequence analysis for possible mutations, and family survey.

Results: Among 15 patients with low plasma alpha-Gal A activity, 4 male patients with low leukocyte alpha-Gal A and 1 female patient revealing low plasma alpha-Gal A were detected in 696 HD patients (0.7% of total patients). 3 of these 5 patients were already diagnosed to have the classical type of Fabry's disease. The other 2 patients were newly diagnosed as Fabry's disease, and did not have typical manifestations of Fabry's disease other than renal failure and left ventricular hypertrophy. DNA analysis of these 2 newly diagnosed patients revealed that each had an alpha-Gal missense mutation, previously identified (E66Q, M2961).

Conclusion: Fabry's disease should be considered in the etiology of unexplained end-stage renal disease. Not only affected males but also affected females undergoing HD patients can be readily diagnosed by alpha-Gal A activities and gene analysis. These patients and their family members may benefit from enzyme replacement therapy for Fabry's disease.

Publication types

  • Comparative Study

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Biomarkers / blood
  • DNA / analysis
  • Disease Progression
  • Exons
  • Fabry Disease / enzymology*
  • Fabry Disease / genetics
  • Fabry Disease / therapy
  • Female
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Mutation, Missense
  • Pedigree
  • Renal Dialysis*
  • Severity of Illness Index
  • alpha-Galactosidase / blood*
  • alpha-Galactosidase / genetics


  • Biomarkers
  • DNA
  • alpha-Galactosidase