Alpha-Galactosidase A Levels in Colombian Males with End-Stage Renal Disease: Ten Years of Selective Screening in Dried Blood Spots
J. inborn errors metab. screen
; 10: e20210033, 2022. tab, graf
Article
em En
|
LILACS-Express
| LILACS
| ID: biblio-1360545
Biblioteca responsável:
BR1.1
ABSTRACT
Abstract Fabry disease is a metabolic alteration linked to an enzymatic deficiency of Alpha-Galactosidase A, this disorder compromises the sphingolipid metabolism, leading to an accumulation of lysosomal globotriaosylceramide and is inherited in an X-linked recessive way. The diagnostic of this disease, in general, requires the confirmation of below-normal levels of Alpha-Galactosidase A obtained from dried blood spot (DBS) samples, followed by an assessment of the enzyme in leukocytes. We aimed to report the Alpha-Galactosidase A values obtained in Colombian males with end-stage renal disease (ESRD) screened using dried blood spot samples during ten years. This screening was performed with samples sent to the analysis center from 6156 patients between 2006- 2016. All patients with low levels in enzyme activity (compared to the control population) were sent to confirmation through enzyme analysis in isolated leukocytes. 26 males (0.42%) with low levels of Alpha-Galactosidase A were identified (Range 0.0 - 1.14 nmol/ml/hour, cut-off 1.15), 22 patients were subsequently measured in isolated leukocytes having a confirmation of Fabry disease in 5 patients (0.08% of total male population) (Range 0.3 -4.7 nmol/mg prot/h). These results are similar to those reported in studies with comparable characteristics being this the first reporting frequency of Fabry disease among Colombian males with end-stage renal disease.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
LILACS
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
País/Região como assunto:
America do sul
/
Colombia
Idioma:
En
Revista:
J. inborn errors metab. screen
Assunto da revista:
Medicina Cl¡nica
/
Patologia
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
Colômbia
País de publicação:
Brasil