Prevalence of Fabry disease in male dialysis patients: Argentinean screening study

JIMD Reports
Joaquín FrabasilAndrea B Schenone

Abstract

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by enzyme Alpha-Galactosidase A (α-Gal-A) deficiency, due mutations in GLA gene. Progressive glycolipid accumulation leads to damage in kidney and other organs. The aim of this study was to estimate the prevalence of Fabry disease in Argentinean male patients undergoing dialysis. A prospective screening study was carried out measuring the α-Gal-A activity in dried blood spot (DBS) samples of male patients undergoing dialysis from Argentina. Those patients in which DBS α-Gal-A level was low (<4.0 μmol/hr/L), underwent GLA genetic testing for diagnosis confirmation. Nine thousand six hundred and four dialysis male patients from 264 centers distributed over 20 of the 23 provinces of Argentina were investigated. Twenty-four patients showed a decreased or absent α-Gal-A activity in DBS and although genetic analysis found a variant in the GLA gene in every one of these patients, we could confirm FD diagnosis in 22 cases. The prevalence rate of FD found in Argentinean male dialysis patients was 0.23%. Classic phenotype was observed in 73% of patients, whereas the remaining 27% presented as late-onset variant. This was the largest study carried out in dialysis patients...Continue Reading

References

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Citations

Apr 1, 2020·Jornal brasileiro de nefrologia : ʹorgão oficial de Sociedades Brasileira e Latino-Americana de Nefrologia·Mariana Faucz Munhoz da CunhaFellype Carvalho Barreto
Oct 11, 2020·Biomedicines·Massimiliano VerouxPierfrancesco Veroux
May 18, 2021·Néphrologie & thérapeutique·C VigneauUNKNOWN SNOUFY Investigators Group

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Methods Mentioned

BETA
enzyme replacement therapy
PCR
biopsies

Software Mentioned

PROVEAN
STATA
Human Splicing Finder
PolyPhen

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