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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[1] Left ventricular hypertrophy and end-stage renal failure of unknown etiology: Fabry disease?
Arevalo-Gomez, A.
Rivera-Garcia, S.
Lopez-Muniz, A.
Barriales-Villa, R.
[J]. REVISTA CLINICA ESPANOLA, 2012, 212 (05): : 265 - 266
[2] End-stage renal disease in patients with Fabry disease
Obrador, GT
Ojo, A
Thadhani, R
[J]. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2002, 13 (06): : S144 - S146
[3] Screening for Fabry disease in male patients with end-stage renal disease in western France
Vigneau, C.
Germain, D. P.
Larmet, D.
Jabbour, F.
Hourmant, M.
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[4] End-stage renal disease in Fabry disease
Granata, A.
Romeo, G.
Gulisano, S.
Leonardi, G.
Romano, R.
Manca, E.
Fiumara, A.
Sicurezza, E.
[J]. CLINICAL THERAPEUTICS, 2007, 29 : S20 - S20
[5] Fabry disease in patients with end-stage renal failure: The potential benefits of screening
Bekri, S
Enica, A
Ghafari, T
Plaza, G
Champenois, I
Choukroun, G
Unwin, R
Jaeger, P
[J]. NEPHRON CLINICAL PRACTICE, 2005, 101 (01): : C33 - C38
[6] MORTALITY IN PATIENTS WITH FABRY DISEASE AND END-STAGE RENAL FAILURE
Karovaikina, Ekaterina
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[J]. Nature Clinical Practice Nephrology, 2007, 3 (10): : 525 - 526
[8] FAMILY SCREENING FOR FABRY DISEASE BASED ON MALE INDEX CASES WITH END-STAGE RENAL DISEASE
Silva, Cassiano A. B.
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Barreto, Fellype C.
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[9] Prevalence of end-stage renal failure in patients diagnosed with Fabry disease
Franco, A.
Torras, J.
Torra, R.
Valverde, V.
Herrera, J.
Pintos-Morell, G.
Paniagua, J.
Gomez, E.
Torregosa, V.
Hernandez, S.
West, M.
[J]. INTERNATIONAL JOURNAL OF CLINICAL PHARMACOLOGY AND THERAPEUTICS, 2009, 47 : S137 - S138
[10] End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry
Ortiz, Alberto
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Germain, Dominique P.
Mignani, Renzo
Oliveira, Joao Paulo
Villalobos, Jacobo
Vujkovac, Bojan
Waldek, Stephen
Wanner, Christoph
Warnock, David G.
[J]. NEPHROLOGY DIALYSIS TRANSPLANTATION, 2010, 25 (03) : 769 - 775

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