Table 1. Description of cohorts and patients under study.
| Patient group (cohort) | Origin | N | Mild | Severe | ||||||
| N (%) | Age: mean (SD) | Females: N (%) | with ESKD: N (%) | N (%) | Age: mean (SD) | Females: N (%) | with ESKD: N (%) | |||
| A. Heterozygous mutation carriers of COL4A3-G1334E or COL4A3-G871C or COL4A4-3854delG1 | Cyprus | 102 | 44 (43%) | 60.3 (±10.3) | 26 (59%) | 0 | 58 (57%) | 62.6 (±12.9) | 26 (44%) | 20 (34%) |
| B. Heterozygous mutation carriers of CFHR5 Exons 2–3 duplication2 | Cyprus | 83 | 48 (58%) | 57.5 (±12.9) | 29 (60%) | 0 | 35 (42%) | 58.4 (±11.1) | 8 (23%) | 20 (57%) |
| C. XLAS male patients, mutation carriers of COL4A5-P628L or COL4A5-G624D3 | Cyprus, Greece | 15 | 11 (41%) | 50.8 (±5.3) | 0 | 5 (45%) | 4 (59%) | 50.8 (±5.3) | 0 | 4 (100%) |
| D. Familial cases of MH4 | Cyprus, Greece | 67 | 33 (49%) | 53.8 (±8.9) | 26 (79%) | 0 | 34 (51%) | 56.4 (±12.8) | 13 (38%) | 11 (32%) |
Please note that cohort B1 is the male only patients with CFHR5 nephropathy.
MH: Microscopic Hematuria, ESKD: End Stage Kidney Disease, XLAS: X-linked Alport syndrome.
1
“Mild” patients born before 01/1963. Gender difference (Mild vs Severe) is not significant (p = 0.141).
2
“Mild” patients born before 01/1975. Gender difference (Mild vs Severe) is significant (p = 0.001).
3
“Severe” patients: ESKD≤40 yo.
4
“Mild” patients born before 01/1979. Gender difference (Mild vs Severe) is significant (p = 0.001).