Table 1.
Clinical data according to mutation status for 125 patients from 110 families with NS
| Age at Onset of NS (Mean ± SD [years], Median, Range [years]) | Response to CR (No. of Patients with NR/NG/NA) | Response to IS with/without ACEI (No. of Patients with NR/PR/NG/NA) | Histology (No. of Patients with CNF/DMS/MCNS/FSGS/NP) | ESRD (No. of patients [%]) | Age at ESRD (Mean ± SD [years], Median, Range [years]) | Progression Time to ESRD (Mean ± SD [years], Median, Range [years]) | Kidney Transplant (No. of patients [%]) | |
|---|---|---|---|---|---|---|---|---|
| Total | 17.5 ± 16.5; n = 125 | 78/32/15 | 50/7/36/32 | 3/3/2/108/9 | 69 (55) | 27.3 ± 19.1; n = 69 | 5.3 ± 5.5; n = 69 | 53 (76) |
| 14.0 (0.0 to 56.0) | 24.0 (0.2 to 61.0) | 3.0 (0.0 to 26.0) | ||||||
| Congenital onset | 0.1 ± 0.1; n = 15 | 4/11/0 | 1/0/13/1 | 3/3/0/2/7 | 7 (47) | 1.4 ± 1.2; n = 7 | 1.4 ± 1.2; n = 7 | 5 (71) |
| (0 to 3 months) | 0.1 (0.0 to 0.2) | 1.0 (0.2 to 4.0) | 1.0 (0.2 to 3.9) | |||||
| Infantile onset | 0.8 ± 0.2; n = 8 | 7/0/1 | 4/2/0/2 | 0/0/0/7/1 | 5 (63) | 5.6 ± 0.9; n = 5 | 4.8 ± 0.9; n = 5 | 3 (60) |
| (4 to 12 months) | 0.8 (0.3 to 1.0) | 5.0 (5.0 to 7.0) | 4.3 (4.2 to 6.4) | |||||
| Early childhood onset | 3.4 ± 1.3; n = 24 | 22/1/1 | 15/1/1/7 | 0/0/1/22/1 | 9 (37) | 8.3 ± 5.2; n = 9 | 4.5 ± 5.0; n = 9 | 9 (100) |
| (13 months to 5 years) | 3.3 (1.2 to 5.7) | 6.5 (3.0 to 17.0) | 1.9 (1.0 to 13.0) | |||||
| Late childhood onset | 8.1 ± 1.9; n = 13 | 13/0/0 | 12/1/0/0 | 0/0/0/13/0 | 4 (31) | 10.0 ± 3.4; n = 4 | 2.3 ± 1.9; n = 4 | 2 (50) |
| (6 to 12 years) | 7.5 (6.0 to 12.0) | 8.5 (8.0 to 15.0) | 1.5 (1.0 to 5.0) | |||||
| Adolescent onset | 15.6 ± 1.3; n = 9 | 6/2/1 | 5/0/2/2 | 0/0/0/9/0 | 7 (78) | 22.7 ± 4.4; n = 7 | 7.1 ± 4.9; n = 7 | 6 (86) |
| (13 to 17 years) | 16.0 (13.0 to 17.0) | 24.0 (17.0 to 29.0) | 8.0 (2.0 to 13.0) | |||||
| Adult onset | 33.9 ± 10.6; n = 56 | 26/18/12 | 12/4/20/20 | 0/0/1/55/0 | 37 (66) | 41.1 ± 13.0; n = 37 | 6.4 ± 6.4; n = 37 | 26 (70) |
| (>18 years) | 33.0 (18.0 to 56.0) | 40.0 (21.0 to 61.0) | 3.5 (0.0 to 26.0) | |||||
| Patients with 2 NPHS1 mutations | 2.6 ± 6.8; n = 16 | 5/10/1 | 3/1/12/0 | 3/1/0/6/6 | 6 (35) | 1.5 ± 1.3; n = 6 | 1.5 ± 1.3; n = 6 | 4 (67) |
| 0.1 (0.0 to 27.0) | 1.0 (0.2 to 4.0) | 1.0 (0.2 to 3.9) | ||||||
| two severe mutations | 0.1 ± 0.1; n = 12 | 2/10/0 | 0/0/12/0 | 3/1/0/2/6 | 6 (50) | 1.5 ± 1.3; n = 6 | 1.5 ± 1.3; n = 6 | 4 (67) |
| 0.0 (0.0 to 0.1) | 1.0 (0.2 to 4.0) | 1.0 (0.2 to 3.9) | ||||||
| at least one mild mutation | 10.3 ± 11.5; n = 4 | 3/0/1 | 3/1/0/0 | 0/0/0/4/0 | 0 (0) | – | – | – |
| 6.5 (1.0 to 27.0) | ||||||||
| Patients with 2 NPHS2 mutations | 11.8 ± 11.6; n = 19 | 19/0/0 | 13/3/0/3 | 0/0/1/16/2 | 13 (68) | 19.9 ± 14.5, n = 13 | 6.5 ± 3.8, n = 13 | 10 (77) |
| 8.0 (0.02 to 39.0) | 15.0 (5.0 to 50.0) | 5.0 (1.0 to 13.0) | ||||||
| two pathogenic mutations | 2.8 ± 2.6; n = 10 | 10/0/0 | 6/2/0/2 | 0/0/1/7/2 | 6 (60) | 7.6 ± 2.5, n = 6 | 4.2 ± 2.7, n = 6 | 4 (67) |
| 2.3 (0.02 to 8.0) | 7.0 (5.0 to 12.0) | 3.7 (1.0 to 8.0) | ||||||
| one pathogenic mutation + p.R229Q | 21.8 ± 9.1; n = 9 | 9/0/0 | 7/1/0/1 | 0/0/0/9/0 | 7 (78) | 30.4 ± 11.8, n = 71 | 8.4 ± 3.7, n = 7 | 6 (86) |
| 19.0 (10 0.0– 39.0) | 26.0 (15.0 to 50.0) | 9.0 (4.0 to 13.0) | ||||||
| Patients with WT1 mutations | 1.3 ± 1.2; n = 5 | 3/2/0 | 3/2/0/0 | 0/2/0/3/0 | 2 (40) | 0.3 ± 0.2, n = 2 | 0.2 ± 0.2, n = 2 | 1 (50) |
| 1.0 (0.2 to 2.8) | 3.0 (1.0 to 5.0) | 2.4 (0.7 to 4.0) | ||||||
| Patients with TRPC6 mutations | 24.4 ± 16.9; n = 4 | 3/1/0 | 0/1/1/2 | 0/0/0/3/1 | 1 (25) | 39.0, n = 1 | 14.0, n = 1 | 1 (100) |
| 25.0 (7.2 to 41.0) | ||||||||
| Patients with INF2 mutations | 32.0 ± 16.6; n = 5 | 0/5/0 | 0/0/5/0 | 0/0/0/5/1 | 4 (80) | 36.5 ± 17.3, n = 4 | 4.5 ± 4.0, n = 4 | 4 (100) |
| 31.0 (16.0 to 50.0) | 33.5 (21.0 to 58.0) | 4.5 (1.0 to 8.0) |
CR, corticoids; IS, immunosuppressants; MCNS, minimal change nephrotic syndrome; NA, not available; NG, not given; NP, not performed; NR, no response; PR, partial response.