Screening of Fabry disease in patients with end-stage renal disease of unknown etiology：the first Thailand study

We aimed to explore the prevalence of Fabry disease in Thai patients who were diagnosed with end-stage renal disease（ESRD） of an unknown origin.Venous blood samples were collected from ESRD patients for biochemical and molecular studies.Alpha-galactosidase A（a-GAL A） screening was performed from dri...

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Published in:Journal of biomedical research 2017-01, Vol.31 (1), p.17-24
Main Authors: Trachoo, Objoon, Jittorntam, Paisan, Pibalyart, Sarunpong, Kajanachumphol, Saowanee, Suvachittanont, Norasak, Patputthipong, Suthep, Chuengsaman, Piyatida, Nongnuch, Arkom
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Language:English
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Summary:We aimed to explore the prevalence of Fabry disease in Thai patients who were diagnosed with end-stage renal disease（ESRD） of an unknown origin.Venous blood samples were collected from ESRD patients for biochemical and molecular studies.Alpha-galactosidase A（a-GAL A） screening was performed from dried-blood spots using fluorometry.Molecular confirmation was performed using DNA sequencing of the GLA gene.A total of 142 male and female patients were included in this study.Ten patients（7.04%） exhibited a significant decrease in a-GAL A activity.There were no definitive pathogenic mutations observed in the molecular study.However,four patients revealed a novel nucleotide variant at c.l-10 C〉T,which was identified as a benign variant following screening in the normal population.In conclusion,the a-GAL A assay utilizing dried-blood spots revealed a significant false positive rate.There was no definitive Fabry disease confirmed in Thai patients diagnosed with ESRD of unknown etiology.
ISSN:1674-8301
2352-4685
DOI:10.7555/JBR.31.20160063