Table 1.
Genotype-phenotype correlations in pediatric patients with steroid-resistant nephrotic syndrome.
| CNS | Infantile | 1–2 years | 3–5 years | 6–12 years | ≥12 years | Total patient | P-value | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| n = 35(12.4%) | n = 29 (10.2%) | n = 91 (32.2%) | n = 46 (16.3%) | n = 72 (25.4%) | n = 10 (3.5%) | n = 283 | ||||||||||
| Mutation | Mutation | Mutation | Mutation | Mutation | Mutation | Mutation | Mutation | Mutation | Mutation | Mutation | Mutation | Mutation | Mutation | |||
| (−) | (+) | (−) | (+) | (−) | (+) | (−) | (+) | (−) | (+) | (−) | (+) | (−) | (+) | |||
| n = 10 | n = 25 | n = 16 | n = 13 | n = 70 | n = 21 | n = 31 | n = 15 | n = 43 | n = 29 | n = 7 | n = 3 | n = 177 | n = 106 | |||
| Sex | Male:female | 7:3 | 15:10 | 5.11 | 7:6 | 42:28 | 8.13 | 16.15 | 8:7 | 29:14 | 11.18 | 2:5 | 1:2 | 101:76 | 50:56 | |
| Response to steroid | No treatment | 6 | 18 | 0 | 2 | 0 | 0 | 2 | 0 | 0 | 1 | 0 | 0 | 8 (4.5%) | 21 (19.8%) | |
| Initial non-respond | 3 | 5 | 14 | 9 | 50 | 16 | 16 | 14 | 36 | 19 | 4 | 3 | 123 (69.5%) | 66 (62.3%) | ||
| Late non-responder | 0 | 0 | 2 | 0 | 7 | 0 | 7 | 0 | 4 | 1 | 2 | 0 | 22 (12.4%) | 1 (0.9%) | ||
| Data unavailable | 1 | 2 | 0 | 2 | 13 | 5 | 6 | 1 | 3 | 8 | 1 | 0 | 24 (13.6%) | 18 (17.0%) | ||
| Response to immune therapy | No treatment | 7 | 22 | 9 | 8 | 11 | 9 | 7 | 4 | 9 | 12 | 1 | 1 | 44 (24.9%) | 56 (51.9%) | |
| Responder | 0 | 1 | 1 | 0 | 28 | 1 | 12 | 0 | 19 | 0 | 3 | 0 | 63 (35.6%) | 2 (1.9%) | ||
| Non-responder | 3 | 2 | 6 | 5 | 31 | 11 | 12 | 11 | 15 | 17 | 3 | 2 | 70 (39.5%) | 48 (46.2%) | <0.001a | |
| Kidney biopsy | FSGS | 1 | 1 | 5 | 3 | 18 | 6 | 16 | 9 | 19 | 15 | 1 | 3 | 60 (33.9%) | 37 (34.9%) | <0.01f |
| MCD | 0 | 0 | 1 | 0 | 17 | 0 | 8 | 0 | 10 | 4 | 2 | 0 | 38 (21.5%) | 4 (3.8%) | <0.01f | |
| MsPGN | 0 | 1 | 0 | 2 | 9 | 3 | 4 | 0 | 2 | 1 | 1 | 0 | 16 (9%) | 7 (6.6%) | ||
| Others | 1 | 0 | 0 | 0 | 6 | 1 | 0 | 2 | 10 | 1 | 3 | 0 | 20 (11.3%) | 4 (3.8%) | ||
| Not done | 8 | 23 | 10 | 8 | 20 | 11 | 3 | 4 | 1 | 8 | 0 | 0 | 42 (23.7%) | 54 (51.0%) | ||
| Family history | Yes | 1 | 1 | 3 | 2 | 6 | 4 | 3 | 1 | 3 | 6 | 0 | 1 | 16 (8.8%) | 14 (13.2%) | |
| No | 8 | 24 | 12 | 10 | 60 | 17 | 27 | 14 | 39 | 22 | 7 | 2 | 153 (86.2%) | 90 (84.9%) | <0.01d | |
| Data unavailable | 1 | 0 | 1 | 1 | 4 | 0 | 1 | 0 | 1 | 1 | 0 | 0 | 8 (4.5%) | 2 (1.8%) | ||
| Extrarenal manifestations | Yes | 4 | 8 | 2 | 5 | 5 | 4 | 5 | 6 | 7 | 3 | 0 | 0 | 23 (11.5%) | 26 (24.5%) | |
| No | 6 | 17 | 14 | 8 | 65 | 17 | 26 | 9 | 36 | 26 | 7 | 4 | 154 (87%) | 80 (75.5%) | <0.001e | |
| Renal outcome at follow-up | Normal eGFR | 1 | 5 | 7 | 3 | 31 | 5 | 11 | 8 | 16 | 7 | 2 | 0 | 68 (38.4%) | 28 (26.4%) | |
| CKD stages 2–4 | 0 | 0 | 1 | 1 | 3 | 0 | 6 | 1 | 7 | 5 | 2 | 2 | 19 (10.8%) | 9 (8.5%) | <0.01b | |
| ESKD/RRT | 0 | 0 | 1 | 3 | 7 | 10 | 6 | 4 | 6 | 11 | 0 | 0 | 20 (11.3%) | 28 (26.4%) | <0.01c | |
| Mortality | 4 | 8 | 2 | 3 | 5 | 3 | 0 | 1 | 0 | 1 | 0 | 0 | 11 (6.2%) | 16 (15.1%) | ||
| Data unavailable | 5 | 12 | 5 | 3 | 24 | 3 | 8 | 1 | 14 | 5 | 3 | 1 | 59 (33.3%) | 25 (23.6%) | ||
| Renal transplantation | Yes | 0 | 0 | 0 | 1 | 3 | 7 | 0 | 0 | 1 | 6 | 0 | 0 | 4 (2.2%) | 14 (13.2%) | |
| No | 6 | 20 | 11 | 10 | 34 | 12 | 18 | 11 | 37 | 19 | 4 | 2 | 110 (62.1%) | 74 (70%) | ||
| Data unavailable | 4 | 5 | 5 | 2 | 33 | 2 | 13 | 4 | 5 | 4 | 3 | 1 | 63 (35.6%) | 18 (17.0%) | ||
a
respond to immune thearpy group vs. non-responders.
b
normal eGFR vs. CKD stage 2–4.
c
CKD stage 2–4 vs. groups(ESKD+Mortality).
d
groups with family history vs. groups without family history.
e
groups with extrarenal manifestations vs. groups without extrarenal manifestations.
f
FSGS vs. MCD.
CNS, congenital nephrotic syndrome; FSGS, focal segmental glomerulosclerosis; MCD, Minimal change disease; MsPGN, Mesangial proliferative glomerulonephritis; eGFR, estimated glomerular filtration rate; CKD, chronic kidney disease; ESKD, end-stage renal disease; RRT, Renal replacement therapy (hemodialysis, peritoneal dialysis, kidney transplantation).