Table 3.
Genotype-phenotype correlations in pediatric patients with steroid-resistant nephrotic syndrome of AD mutation and AR mutation.
| AD | AR | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| WT1 | TRPC6 | ACTN4 | Others | Total | NPHS1 | NPHS2 | ADCK4 | LAMB2 | Others | Total | ||
| (n = 32) | (n = 6) | (n = 3) | (n = 3) | (n = 44) | (n = 18) | (n = 15) | (n = 13) | (n = 3) | (n = 7) | (n = 56) | ||
| Sex | Male:Female | 8:24 | 4:2 | 1:2 | 2:1 | 15:29 | 14:4 | 9:6 | 4:9 | 0:3 | 5:2 | 32:24 |
| Age of onset | 1–3 m | 3 | 0 | 0 | 0 | 3 (6.8%) | 17 | 2 | 1 | 2 | 0 | 22 (39.3%) |
| 3 m−1 y | 6 | 1 | 0 | 0 | 7 (15.9%) | 0 | 3 | 1 | 1 | 1 | 6 (10.7%) | |
| 1–2 y | 9 | 2 | 0 | 0 | 11 (25%) | 0 | 5 | 3 | 0 | 2 | 10 (17.9%) | |
| 3–5 y | 5 | 1 | 1 | 1 | 8 (18.2%) | 1 | 0 | 2 | 0 | 2 | 5 (8.9%) | |
| 6–12 y | 7 | 2 | 2 | 2 | 13 (29.5%) | 0 | 3 | 6 | 0 | 2 | 11 (19.6%) | |
| ≥12 y | 2 | 0 | 0 | 0 | 2 (4.5%) | 0 | 2 | 0 | 0 | 0 | 2 (3.6%) | |
| Kidney biopsy | FSGS | 8 | 4 | 2 | 1 | 15 (34%) | 1 | 6 | 5 | 1 | 5 | 18 (32.1%) |
| MCD | 1 | 0 | 0 | 0 | 1 (2.2%) | 0 | 1 | 0 | 0 | 0 | 1 (1.8%) | |
| MsPGN | 1 | 0 | 0 | 0 | 1 (2.2%) | 1 | 3 | 1 | 0 | 0 | 5 (8.9%) | |
| Others | 3 | 1 | 0 | 1 | 5 (11.3%) | 0 | 0 | 0 | 0 | 0 | 0 | |
| Not done | 19 | 1 | 1 | 1 | 22 (50%) | 16 | 5 | 7 | 2 | 2 | 32 (57.1%) | |
| Renal outcome at follow-up | Normal eGFR | 6 | 1 | 0 | 2 | 9 (20.5%) | 4 | 8 | 3 | 0 | 3 | 18 (32.1%) |
| CKD stages 2–4 | 4 | 0 | 0 | 0 | 4 (9.1%) | 2 | 0 | 0 | 1 | 1 | 4 (7.1%) | |
| ESKD/RRT | 9 | 5 | 2 | 1 | 17 (38.7%) | 0 | 5 | 6 | 0 | 2 | 13 (23.2%) | |
| Mortality | 8 | 0 | 1 | 0 | 9 (20.5%) | 6 | 0 | 0 | 0 | 1 | 7 (12.5%) | |
| Data unavailable | 5 | 0 | 0 | 0 | 5 (11.4%) | 6 | 2 | 4 | 2 | 0 | 14 (25%) | |
| Family history | Yes | 2 | 0 | 0 | 1 | 3 (6.7%) | 0 | 5 | 6 | 0 | 1 | 12 (21.4%) |
| No | 29 | 6 | 3 | 2 | 40 (91%) | 17 | 10 | 7 | 2 | 5 | 31 (55.4%) | |
| Data unavailable | 1 | 0 | 0 | 0 | 1 (2.2%) | 1 | 0 | 0 | 1 | 1 | 3 (5.3%) | |
| Extrarenal manifestations | Yes | 12 | 0 | 0 | 0 | 12 (27.2%) | 4 | 4 | 0 | 2 | 3 | 13 (23.2%) |
| No | 20 | 6 | 3 | 3 | 32 (72.7%) | 14 | 11 | 15 | 1 | 4 | 43 (76.8%) | |
| Renal transplantation | Yes | 2 | 3 | 0 | 0 | 5 (11.4%) | 0 | 3 | 2 | 0 | 2 | 9 (16.1%) |
| No | 24 | 2 | 3 | 3 | 32 (72.7%) | 12 | 8 | 8 | 0 | 2 | 30 (53.6%) | |
| Data unavailable | 6 | 1 | 0 | 0 | 7 (15.9%) | 5 | 4 | 3 | 3 | 3 | 17 (30.3%) | |
AD, autosomal dominant; AR, autosomal recessive. 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).