摘要
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.
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.
