Open AccessPrevalence of Fabry disease in male dialysis patients: Argentinean screening study
Author(s) -
Frabasil Joaquín,
Durand Consuelo,
Sokn Silvia,
Gaggioli Daniela,
Carozza Patricia,
Carabajal Ricardo,
Politei Juan,
Sche Andrea B.
Publication year - 2019
Publication title -
jimd reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.412
H-Index - 25
ISSN - 2192-8312
DOI - 10.1002/jmd2.12035
Subject(s) - fabry disease , dialysis , medicine , hemodialysis , disease , kidney disease , dried blood spot , genetic testing , gastroenterology , pediatrics , surgery , biology , genetics
Background 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. Methods 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. Results 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. Conclusion 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 from a same country at a worldwide level and the first study performed in Argentina.