Table 1.
Characteristics of Fabry disease screening studies in chronic kidney disease patients not on dialysis.
| Study |
Turkmen et al. (T1) |
Yeniçerioglu et al. (T2) |
Lin et al. (T3) |
Auray-Blais et al. (C1) |
|---|---|---|---|---|
| Overall screened | 313 | 1453 | 1012 | 397 |
| Males screened | 167 | 797 | 1012 | 279 |
| Females screened | 146 | 656 | 0 | 118 |
| Screening test | Enzymatic assay | Enzymatic assay | Enzymatic assay | Gb3 and Lsyso-Gb3 urinary assay |
| Confirmation test | DNA test | DNA test | DNA test | Enzymatic assay or/and DNA test |
| FD cases, n | 11 | 3 | 6 | 0 |
| FD prevalence, % | 0.95 | 0.2 | 0.59 | 0 |
| Mutation classic (n) | p.N34H (8) p.F229V (2) p.358delE (1) |
p.T410A (1) p.G138E (1) |
||
| Mutation atypical (n) | A143T variant (1) D313Y variant (2) |
c.639 + 919G > A (3) p.P210S (1) |
||
| GFR, ml/min | 87 (23–126)* | 33.9 ± 3.9** | 50.5 ± 28.0** | |
| Proteinuria | 0.26 (0.07–5.6)*g/g*** | 50 ± 6.2** mg/24 h | 2.0 ± 2.4** g/24 h | |
| FD cases with cardiovascular complications, n | 2 | 2 | 4 | |
| FD cases with cerebrovascular complications, n | 0 | 0 | 2 | |
| FD cases with other signs or symptoms, n | 9 | 2 | 2 |
*
Median (IQR);
**
Mean ± SD;
***
Spot urine total protein/creatinine ratio; FD: Fabry Disease.