Table 1.
Relative numbers of pathogenic COL4A5 and COL4A3/COL4A4 variants in sequenced cohorts with kidney failure
| Cohort | Pathogenic variants detected | Heterozygous COL4A3/ COL4A4 variant | X-linked Alport syndrome (COL4A5 variants) | COL4A3/COL4A4:COL4A5 | Reference |
|---|---|---|---|---|---|
| Transplant series, 1972–2014, excluding 32, where no variant found (n = 73) | n = 73 | n = 15 | n = 57 | 15:57 = 0.3 | Gillion et al.19 |
| CKD, awaiting transplant not considered genetic (n = 57) | n = 6 | n = 1 | n = 2 | 1:2 = 0.5 | Ottlewski, 201820 |
| ESKF with glomerular disease (Supplementary Table S3) | n = 21 | n = 8 | n = 3 | 8:3 = 2.7 | Bullich et al.21 |
| CKD including unknown cause, known familial disease or hypertension (n = 92) | n = 22 | n = 1 | n = 5 | 1:5 = 0.2 | Lata et al.22 |
| CKD (n = 3037 and 2144 with CKD) | n = 307 | n = 27 + 21 = 48 | n = 44 | 48:44 = 1.1 | Groopman et al.23 |
| CKD in pediatric kidney transplant recipients (n = 104) | n = 34 | n = 0 | n = 1 | 0:1 | Mann et al.24 |
| CKD in adults from families, or with extra-renal features, or 20 with neither (n = 114) | n = 42 | n = 2 | n = 5 | 2:5 = 0.4 | Connaughton et al.25 |
CKD, chronic kidney disease; ESKF, end-stage kidney failure.