Table 2.
Clinical characteristics of cohort
| Total cohort | Steroid-resistant nephrotic syndrome | Steroid-sensitive nephrotic syndrome | Haematuria/ Alport syndrome | |
| Total patients | 302 | 255 | 12 | 35 |
| Male (%) | 165 (54.6) | 138 (54.1) | 10 (83.3) | 17 (48.6) |
| Age at onset/testing*in years (%) | ||||
| 0–0.25 | 32 (10.6) | 31 (12.2) | 1 (8.3) | 0 (0) |
| 0.25–1 | 16 (5.3) | 13 (5.1) | 0 (0) | 3 (8.6) |
| 1–12 | 147 (48.7) | 125 (49.0) | 9 (75) | 13 (37.1) |
| 13–18 | 45 (14.9) | 40 (15.7) | 1 (8.3) | 4 (11.4) |
| >18 | 62 (20.5) | 46 (18.0) | 1 (8.3) | 15 (42.9) |
| Family history positive/number with data available (%) | 58/183 (31.7) | 35/147 (23.8) | 1/8 (12.5) | 22/28 (78.6) |
| Consanguinity/number with data available (%) | 17/141 (12.1) | 13/117 (11.1) | 3/9 (33.3) | 1/15 (6.7) |
| Ethnicity (% of patients where data available) | ||||
| White | 99 (65.8) | 83 (66.4) | 3 (37.5) | 13 (76.5) |
| Indian | 14 (9.4) | 12 (9.6) | 2 (25) | 0 (0) |
| Black African/Caribbean | 7 (4.7) | 5 (4.0) | 1 (12.5) | 1 (5.9) |
| Pakistani | 6 (4.0) | 3 (2.4) | 2 (25) | 1 (5.9) |
| Bangladeshi | 2 (1.3) | 2 (1.6) | 0 (0) | 0 (0) |
| Asian | 2 (1.3) | 2 (1.6) | 0 (0) | 0 (0) |
| Middle Eastern | 2 (1.3) | 2 (1.6) | 0 (0) | 0 (0) |
| Arabic | 2 (1.3) | 2 (1.6) | 0 (0) | 0 (0) |
| Mixed | 3 (2.0) | 3 (2.4) | 0 (0) | 0 (0) |
| Other | 13 (8.7) | 11 (8.8) | 0 (0) | 2 (11.8) |
| No ethnicity data available | 152 | 130 | 4 | 18 |
| Biopsy findings (% of patients where data available); number (%) with genetic diagnosis | ||||
| FSGS | 115 (71.9); 27 (23.5) | 109 (82.0); 26 (23.9) | 3 (33.3); 0 (0) | 3 (16.7); 1 (33.3) |
| MCD | 11 (6.9); 0 (0) | 8 (6.0); 0 (0) | 3 (33.3); 0 (0) | 0 (0) |
| Mesangioproliferative GN | 3 (1.9); 0 (0) | 3 (2.3); 0 (0) | 0 (0) | 0 (0) |
| DMS | 5 (3.1); 2 (40.0) | 4 (3.0); 2 (50.0) | 1 (11.1); 0 (0) | 0 (0) |
| Finnish type | 2 (1.3); 2 (100) | 2 (1.5); 2 (100) | 0 (0) | 0 (0) |
| Alport | 8 (5.0); 7 (87.5) | 0 (0) | 0 (0) | 8 (44.4); 7 (87.5) |
| TBMN | 4 (2.5); 1 (25.0) | 0 (0) | 0 (0) | 4 (22.2); 1 (25.0) |
| Other | 12 (7.5); 3 (25.0) | 7 (5.3); 3 (42.9) | 2 (22.2); 0 (0) | 3 (16.7); 0 (0) |
| No biopsy data available/not biopsied | 142 | 122 | 3 | 17 |
| Total with likely pathogenic variants (%) | 71 (23.5) | 54 (21.2) | 0 (0) | 17 (48.6) |
*For patients where no data were available for age at disease onset, the age at genetic testing was used.
DMS, diffuse mesangial sclerosis; FSGS, focal segmental glomerulosclerosis; GN, glomerulonephritis; MCD, minimal change disease; TBMN, thin basement membrane nephropathy.