Bekri (France)3232. Bekri S, Enica A, Ghafari T, et al. Fabry disease in patients with end-stage renal failure: the potential benefits of screening. Nephron Clin Pract. 2005;101(1):c33-38. doi: 10.1159/000085709. https://doi.org/10.1159/000085709...
|
59 |
WBC α-Gal A |
DNA Mutation Analysis |
23 to 89 |
1 |
1.69 |
Terryn (Belgium)3333. Terryn W, Poppe B, Wuyts B, et al. Two-tier approach for the detection of alpha-galactosidase A deficiency in a predominantly female haemodialysis population. Nephrol Dial Transplant. 2008; 23(1):294-300. doi: 10.1093/ndt/gfm532. https://doi.org/10.1093/ndt/gfm532...
|
180 |
DBS α-Gal A |
WBC α-Gal A |
18 to 60 |
1 |
0.56 |
De Schoenmakere (Belgium)3434. De Schoenmakere G, Poppe B, Wuyts B, et al. Two-tier approach for the detection of alpha-galactosidase A deficiency in kidney transplant recipients. Nephrol Dial Transplant. 2008;23(12):4044-4048. doi: 10.1093/ndt/gfn370 https://doi.org/10.1093/ndt/gfn370...
|
278 |
DBS α-Gal A |
DNA Mutation Analysis |
18 to No limit |
1 |
0.35 |
Tanaka (Japan)3535. Tanaka M, Ohashi T, Kobayashi M, et al. Identification of Fabry’s disease by the screening of alpha-galactosidase A activity in male and female hemodialysis patients. Clin Nephrol. 2005;64(4):281-287. doi: 10.5414/cnp64281. https://doi.org/10.5414/cnp64281...
|
401 |
Plasma α-Gal A |
WBC α-Gal A |
19 to 95 |
4 |
1 |
Utsumi (Japan)3636. Utsumi K, Kase R, Takata T, et al. Fabry disease in patients receiving maintenance dialysis. Clin Exp Nephrol. 2000;4(1):49-51. doi: 10.1007/s101570050061. https://doi.org/10.1007/s101570050061...
|
440 |
Plasma α-Gal A |
WBC α-Gal A |
NR |
2 |
0.45 |
Ichinose (Japan)3737. Ichinose M, Nakayama M, Ohashi T, et al. Significance of screening for Fabry disease among male dialysis patients. Clin Exp Nephrol. 2005;9(3):228-232. doi: 10.1007/s10157-005-0369-4. https://doi.org/10.1007/s10157-005-0369-...
|
450 |
Plasma α-Gal A |
WBC α-Gal A and DNA mutation analysis |
26 to 89 |
1 |
0.22 |
Linthorst (Netherlands)3838. Linthorst GE, Hollak CE, Korevaar JC, et al. Alpha-Galactosidase a deficiency in Dutch patients on dialysis: a critical appraisal of screening for Fabry disease. Nephrol Dial Transplant. 2003;18(8):1581-1584. doi: 10.1093/ndt/gfg194. https://doi.org/10.1093/ndt/gfg194...
|
508 |
Whole Blood α-Gal A |
DNA Mutation Analysis |
>18 |
1 |
0.2 |
Nakao (Japan)3939. Nakao S, Kodama C, Takenaka T, et al. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a ‘‘renal variant’’ phenotype. Kidney Int. 2003;64(3):801-807. doi: 10.1046/j.1523-1755.2003.00160.x. https://doi.org/10.1046/j.1523-1755.2003...
|
514 |
Plasma α-Gal A |
Lymphocytes α-Gal A and DNA mutation analysis |
20 to 90 |
6 |
1.17 |
Maslauskiene (Lithuain)4040. Maslauskiene R, Bumblyte IA, Sileikiene E, et al. The prevalence of Fabry’s disease among male patients on hemodialysis in Lithuania (A screening study). Medicina (Kaunas). 2007;43(Suppl 1):77-80
|
536 |
DBS α-Gal A |
No other method reported |
NR |
0 |
0 |
Gaspar (Spain)4141. Gaspar P, Herrera J, Rodrigues D, et al. Frequency of Fabry disease in male and female haemodialysis patients in Spain. BMC Med Genet. 2010;11(1):19. doi: 10.1186/1471-2350-11-19. https://doi.org/10.1186/1471-2350-11-19...
|
543 |
DBS α-Gal A |
DNA mutation analysis |
20.7 to 91.1 |
3 |
0.55 |
Nishino (Japan)4242. Nishino T, Obata Y, Furusu A, et al. Identification of a novel mutation and prevalence study for Fabry disease in Japanese dialysis patients. Ren Fail. 2012;34(5):566-570. doi: 10.3109/0886022X.2012.669300. https://doi.org/10.3109/0886022X.2012.66...
|
557 |
DBS α-Gal A |
DBS α-Gal A |
NR |
1 |
0.17 |
Kikumoto (Japan)4343. Kikumoto Y, Sugiyama H, Morinaga H, et al. The frequency of Fabry disease with the E66Q variant in the a-galactosidase A gene in Japanese dialysis patients: a case report and a literature review. Clin Nephrol. 2012;78(3):224-229. doi: 10.5414/cn107097. https://doi.org/10.5414/cn107097...
|
545 |
DBS α-Gal A |
No other method reported |
NR |
1 |
0.18 |
Porsch (Brazil)4444. Porsch DB, Nunes AC, Milani V, et al. Fabry disease in hemodialysis patients in southern Brazil: prevalence study and clinical report. Ren Fail. 2008;30(9):825-830. doi: 10.1080/08860220802353777. https://doi.org/10.1080/0886022080235377...
|
558 |
DBS α-Gal A |
Plasma α-Gal A |
NR |
2 |
0.36 |
Okur (Turkey)4545. Okur I, Ezgu F, Biberoglu G, et al. Screening for Fabry disease in patients undergoing dialysis for chronic renal failure in Turkey: identification of new case with novel mutation. Gene. 2013;527(1):42-47. doi: 10.1016/j.gene.2013.0 https://doi.org/10.1016/j.gene.2013.0...
|
615 |
DBS α-Gal A |
WBC α-Gal A and DNA mutation analysis |
18 to 90 |
2 |
0.32 |
Fujii (Japan)4646. Fujii H, Kono K, Goto S, et al. Prevalence and cardiovascular features of Japanese hemodialysis patients with Fabry disease. Am J Nephrol. 2009;30(6):527-535. doi: 10.1159/000250968. https://doi.org/10.1159/000250968...
|
625 |
DBS α-Gal A |
Plasma α-Gal A |
19 to 91 |
1 |
0.16 |
Ucar (Turkey)3131. Kalkan Uçar S, Sozmen E, Duman S, Başçi A, Çoker M. Alpha‐Galactosidase A Activity Levels in Turkish Male Hemodialysis Patients. Ther Apher Dial. 2012;16(6):560-565. doi: 10.1111/j.1744-9987.2012.01092.x. https://doi.org/10.1111/j.1744-9987.2012...
|
808 |
Plasma α-Gal A |
DNA Mutation Analysis |
23 to 81 |
2 |
0.24 |
Lv et al (China)4747. Lv YL, Wang WM, Pan XX, et al. A successful screening for Fabry disease in a Chinese dialysis patient population. Clin Genet. 2009;76(2):219-221. doi: 10.1111/j.1399-0004.2009.01166.x. https://doi.org/10.1111/j.1399-0004.2009...
|
876 |
DBS α-Gal A |
WBC α-Gal A |
18 to 87 |
2 |
0.23 |
Doi (Japan)4848. Doi K, Noiri E, Ishizu T, et al. High-throughput screening identified disease-causing mutants and functional variants of agalactosidase A gene in Japanese male hemodialysis patients. J Hum Genet. 2012;57(9):575-579. doi: 10.1038/jhg.2012.68. https://doi.org/10.1038/jhg.2012.68...
|
1080 |
Plasma α-Gal A |
WBC α-Gal A |
NR |
2 |
0.19 |
Maruyama (Japan)3030. Maruyama H, Takata T, Tsubata Y, et al. Screening of male dialysis patients for Fabry disease by plasma globotriaosylsphingosine. Clin J Am Soc Nephrol. 2013;8(4):629-636. doi: 10.2215/CJN.08780812. https://doi.org/10.2215/CJN.08780812...
|
1453 |
Plasma α-Gal A |
Lyso-Gb3 |
25.3 to 95.0 |
1 |
0.07 |
Kotanko (Austria)4949. Kotanko P, Kramar R, Devrnja D, et al. Results of a nationwide screening for Anderson-Fabry disease among dialysis patients. J Am Soc Nephrol. 2004;15(5):1323-1329. doi: 10.1097/01.asn.0000124671.61963.1e. https://doi.org/10.1097/01.asn.000012467...
|
1516 |
DBS α-Gal A |
WBC α-Gal A and DNA mutation analysis |
NR |
4 |
0.26 |
Merta (Czech)2626. Merta M, Reiterova J, Ledvinova J, et al. A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population. Nephrol Dial Transpl. 2007;22(1):179-186 doi: 10.1093/ndt/gfl528. https://doi.org/10.1093/ndt/gfl528...
|
1521 |
DBS α-Gal A |
Plasma α-Gal A/WBC α-Gal A |
NR |
4 |
0.26 |
Spada (Italy)2727. Coutinho MP, Araújo JCB, Santos TM, et al. Screening for fabry disease among dialysis patients in brazil: findings from the first 18 months of a nationwide study. J Adv Med Res. 2017;21(1):1-16. doi: 10.9734/BJMMR/2017/32156. https://doi.org/10.9734/BJMMR/2017/32156...
|
1765 |
DBS α-Gal A |
Plasma α-Gal A |
NR |
4 |
0.22 |
Saito (Japan)1717. Saito O, Kusano E, Akimoto T, et al. Prevalence of Fabry disease in dialysis patients: Japan Fabry disease screening study (J-FAST). Clin Exp Nephrol. 2015;20(2):284-293. doi: 10.1007/s10157-015-1146-7. https://doi.org/10.1007/s10157-015-1146-...
|
5408 |
Plasma α-Gal A |
WBC α-Gal A |
5 to 98 |
2 |
0.04 |
Silva (Brazil)2828. Silva CAB, Barreto FC, Dos Reis MA, et al. Targeted screening of Fabry disease in male hemodialysis patients in Brazil highlights importance of family screening. Nephron. 2016;134(4):221-230. doi: 10.1159/000448740. https://doi.org/10.1159/000448740...
|
2583 |
DBS α-Gal A |
DNA Mutation analysis |
18 to 91 |
3 |
0,12 |
Coutinho (Brazil)2727. Coutinho MP, Araújo JCB, Santos TM, et al. Screening for fabry disease among dialysis patients in brazil: findings from the first 18 months of a nationwide study. J Adv Med Res. 2017;21(1):1-16. doi: 10.9734/BJMMR/2017/32156. https://doi.org/10.9734/BJMMR/2017/32156...
|
2956 |
DBS α-Gal A |
DNA Mutation analysis |
NR |
31 |
1 |
Uribe & Gamba (Colombia) |
6156
|
DBS α-Gal A
|
WBC α-Gal A
|
18 to 93
|
5
|
0.08
|
Frabasil (Argentina)29
|
9604 |
DBS α-Gal A |
DBS α-Gal A |
25 to 67 |
22 |
0.23 |
All Mean |
0.38
|
|
|
|
|
|
SD |
0.39
|
|
|
|
|
|
SE |
0.07
|
|
|
|
|
|