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

作　　者：Objoon Trachoo Paisan Jittorntam Sarunpong Pibalyart Saowanee Kajanachumphol Norasak Suvachittanont Suthep Patputthipong Piyatida Chuengsaman Arkom Nongnuch 

机构地区：[1]department of medicine,faculty of medicine,ramathibodi hospital,mahidol university,Bangkok 10400,Thailand [2]center for medical genomics,faculty of medicine,ramathibodi hospital,mahidol university,Bangkok 10400,Thailand [3]graduate program in translational medicine,faculty of medicine,ramathibodi hospital,mahidol university,Bangkok 10400,Thailand [4]ramathibodi research center,faculty of medicine,ramathibodi hospital,mahidol university,Bangkok 10400,Thailand [5]department of medicine,uttaradit hospital,Uttaradit 53000,Thailand [6]capd service and training center,banphaeo hospital(public organization)-prommitr branch,Bangkok 10110,Thailand

出　　处：《The Journal of Biomedical Research》2017年第1期17-24,共8页生物医学研究杂志（英文版）

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.

关 键 词：Fabry disease end-stage renal disease（ESRD） Alpha-galactosidase A（α-GAL A） 

分 类 号：R692[医药卫生—泌尿科学]