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

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

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 Fabr...

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Veröffentlicht in:JIMD reports 2019-07, Vol.48 (1), p.45-52
Hauptverfasser: Frabasil, Joaquín, Durand, Consuelo, Sokn, Silvia, Gaggioli, Daniela, Carozza, Patricia, Carabajal, Ricardo, Politei, Juan, Schenone, Andrea B.
Format: Artikel
Sprache:eng
Schlagworte:
Age
Child development
dialysis screening
dried blood spots
Enzymes
epidemiology
Fabry disease
Genotype & phenotype
Hemodialysis
Kidney diseases
Males
Medical screening
Mutation
Plasma
prevalence
Research Report
Research Reports
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Beschreibung
Zusammenfassung: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 (
ISSN:2192-8312
2192-8304
2192-8312
DOI:10.1002/jmd2.12035