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

被引：1

作者：

Objoon Trachoo ^{[1
,2
,3
]}

Paisan Jittorntam ^{[4
]}

Sarunpong Pibalyart ^{[1
]}

Saowanee Kajanachumphol ^{[4
]}

Norasak Suvachittanont ^{[1
]}

Suthep Patputthipong ^{[5
]}

Piyatida Chuengsaman ^{[6
]}

Arkom Nongnuch ^{[1
]}

机构：

[1] Department of Medicine,Faculty of Medicine,Ramathibodi Hospital,Mahidol University

[2] Center for Medical Genomics,Faculty of Medicine,Ramathibodi Hospital,Mahidol University

[3] Graduate Program in Translational Medicine,Faculty of Medicine,Ramathibodi Hospital,Mahidol University

[4] Ramathibodi Research Center,Faculty of Medicine,Ramathibodi Hospital,Mahidol University

[5] Department of Medicine,Uttaradit Hospital 6. CAPD Service and Training Center,Banphaeo Hospital(Public Organization)-Prommitr Branch

来源：

The Journal of Biomedical Research | 2017年 / 31卷 / 01期

关键词：

Fabry disease; end-stage renal disease(ESRD); Alpha-galactosidase A(α-GAL A);

D O I：

暂无

中图分类号：

R692 [肾疾病];

学科分类号：

1002 ; 100210 ;

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.

引用

页码：17 / 24

页数：8

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