Table 4.
Reports on FD screening of male dialysis patients
| Authors, Year | First Sampling | Re-Sampling | Plasma Gb3, Lyso-Gb3 | Positive before Genetic Testing | Positive by Genetic Testing | New Discovery Frequency | UnnecessaryRe-Sampling (%) | Unnecessary Genetic Testing (%) | |
|---|---|---|---|---|---|---|---|---|---|
| Screening Cutoffα-GalA Levela | α-Gal A | α-Gal A | |||||||
| Utsumi et al, 2000 (2) | 5.0 | Plasma, 2/440 (0.5) | 2/440 (0.5) | 2/2 (100.0) | 2/440 (0.5) | 0/2 (0.0) | |||
| Nakao et al., 2003 (3) | 29.8 | Plasma, 6/514 (1.2) | WBC, 6/6 (100.0) | Gb3, 6/6 (100.0) | 6/514 (1.2) | 6/6 (100.0) | 6/514 (1.2) | 0/6 (0.0) | |
| Linthorst et al., 2003 (4) | 9.6 | Whole blood, 1/508 (0.2) | 1/508 (0.2) | 1/1 (100.0) | 1/508 (0.2) | 0/1 (0.0) | |||
| Kotanko et al., 2004 (5) | 35.0 | DBS, 53/1516 (3.6) | WBC, 10/53 (18.9) | 10/1516 (0.7) | 4/10 (40.0) | 4/1516 (0.3) | 49/53 (92.5) | 6/10 (60.0) | |
| Ichinose et al., 2005 (6) | 15.4 | Plasma, 3/450 (0.7) | WBC, 1/3 (33.3) | 1/450 (0.2) | 1/1 (100.0) | 1/450 (0.2) | 2/3 (66.7) | 0/1 (0.0) | |
| Tanaka et al., 2005 (7) | 58.2 | Plasma, 11/398 (2.8) | WBC, 1/11 (9.1) | 1/398 (0.3) | 1/1 (100.0) | 1/389 (0.3) | 10/11 (90.9) | 0/1 (0.0) | |
| Bekri et al., 2005 (8) | 55.0 | WBC, 3/59 (5.1) | 3/59 (5.1) | 1/3 (33.3) | 1/59 (1.7) | 2/3 (66.7) | |||
| Merta et al., 2007 (9) | 62.6 | DBS, 58/1521 (3.8) | Plasma, WBC, 4/58 (6.9) | 4/1521 (0.3) | 4/4 (100.0) | 4/1521 (0.3) | 54/58 (93.1) | 0/4 (0.0) | |
| Fujii et al., 2009 (10) | 66.0 | DBS, 25/625 (4.0) | 25/625 (4.0) | 1/25 (4.0) | 1/625 (0.2) | 24/25 (96.0) | |||
| Gaspar et al., 2010 (11) | 48.0 | DBS, 30/543 (5.5) | 30/543 (5.5) | 4/30 (13.3) | 4/543 (0.7) | 26/30 (86.7) | |||
| This study | 54.1 | Plasma, 47/1453 (3.2) | Lyso-Gb3, 3/47 (6.4) | 3/1453 (0.2) | 3/3 (100.0) | 3/1453 (0.2) | 0/3 (0.0) | ||
Data are presented as sample (% positive), unless otherwise indicated. FD, Fabry disease; α-Gal A, α-galactosidase A; Gb3, globotriaosylceramide; lyso-Gb3, globotriaosylsphingosine; WBC, white blood cell; DBS, dried blood spot.
a
Data are presented as the % of control mean or cohort mean.