Table 1.
Baseline characteristics of patients
| Characteristics of patients | p.R138Q (n = 39) | Other variants (n = 78) | No pathogenic variant (n = 44) |
|---|---|---|---|
| Homozygous variants | 23 | 43 | - |
| Male, n (%) | 19 (49%) | 44 (56%) | 29 (66%) |
| Familial cases (2 cases/3 cases/NC) | 8 (6/0/2) | 27 (9/4/15) | 5 (5/0) |
| Age at first manifestation (Median/1Q/3Q/NC) | 0.7/0.1/3.4/0 | 1.8/0.5/6.3/1 | 9.0/3.4/25.2/0 |
| Kidney histology | |||
| MCD | 7 (18%) | 13 (17%) | 28 (64%) |
| FSGS | 17 (44%) | 42 (54%) | 9 (20%) |
| DMS | 1 (2%) | 1 (1%) | 2 (5%) |
| Other | 5 (13%)a | 9 (11%)b | 0 |
| NC | 9 (23%) | 13 (17%) | 5 (11%) |
| Age at KF (Median/1Q/3Q/NC) | 7.3/4.2/12.6/0 | 9.2/5.6/14.0/6 | 19.0/6.9/33.3/6 |
| Age at kidney transplantation (Median/1Q/3Q/NC) | 9.0/6.2/13.1/2 | 10.7/7.6/14.8/4 | 20.5/9.1/36.5/2 |
DMS, diffuse mesangial sclerosis; FSGS, focal segmental glomerulosclerosis; KF, kidney failure; MCD, minimal change disease; NC, not communicated.
a
Mesangial proliferative glomerulonephritis (1), mesangiocapillary glomerulonephritis (3), Alport syndrome (1).
b
Mesangial proliferative glomerulonephritis (4), mesangiocapillary glomerulonephritis (3), C3 glomerulopathy / membranoproliferative glomerulonephritis (1), no lesions (1).