Table 3.
FD (+) | FD (−) | Total | |
---|---|---|---|
Lyso-Gb3 (+) | 1 | 2 | 3 |
Lyso-Gb3 (−) | 0 | 33 | 33 |
Total | 1 | 35 | 36 |
Sensitivity (%) | 100 | ||
Specificity (%) | 94.3 |
In total, we performed α-galactosidase A gene analysis for 36 male dialysis patients with low α-galactosidase A activity. We found one FD (+) patient with class 1 mutation (p.Yl73X) and 35 FD (−) patients consisting of 9 FD (−) patients with class 2 mutation (p.E66Q) and 26 FD (−) patients without a GLA mutation. The sensitivity was calculated by dividing the number of lyso-Gb3 (+) patients by the total number of total FD (+) patients. The specificity was calculated by dividing the number of lyso-Gb3 (−) patients by the number of total FD (−) patients. Lyso-Gb3, globotriaosylsphingosine; FD, Fabry disease; GLA, α-galactosidase A gene.