Table 1.
Genotype-phenotype correlations in pediatric patients with steroid-resistant nephrotic syndrome or focal segmental glomerulosclerosis.
| Phenotype | Mutation (+) Patients (n = 127) |
Mutation (−) Patients (n = 164) |
Total Patients (n = 291) |
Mutation Detection Rate | p Value |
|---|---|---|---|---|---|
| Age at onset | |||||
| Congenital | 27 (21.3%) | 8 (4.9%) | 35 (12.0%) | 77.1% | <0.001 b |
| Infantile | 11 (8.7%) | 14 (8.5%) | 25 (8.6%) | 44.0% | |
| 1–6 years | 40 (31.5%) | 74 (45.1%) | 114 (39.2%) | 35.1% | |
| 7–12 years | 32 (25.2%) | 46 (28.0%) | 78 (26.8%) | 41.0% | |
| ≥13 years | 15 (11.8%) | 21 (12.8%) | 36 (12.4%) | 41.7% | |
| Data unavailable | 2 (1.6%) | 1 (0.6%) | 3 (1.0%) | ||
| Sex ratio a (Male:female) | 71:56 | 91:73 | 162:129 | ||
| Family history (+) | 24 (18.9%) | 24 (14.6%) | 48 (16.5%) | 50.0% | |
| Mode of onset | |||||
| Nephrotic syndrome | 61 (48.0%) | 116 (70.7%) | 177 (60.8%) | 34.5% | <0.001 c |
| Proteinuria | 53 (41.7%) | 40 (24.4%) | 93 (32.0%) | 57.0% | |
| CKD/ESRD | 11 (8.7%) | 8 (4.9%) | 19 (6.5%) | 57.9% | |
| Data unavailable | 2 (1.6%) | 0 | 2 (0.7%) | ||
| Steroid responsiveness | |||||
| Responder | 0 | 15 (9.1%) | 15 (5.2%) | 0% | |
| Non-responder | 72 (56.7%) | 119 (72.6%) | 191 (65.6%) | 37.7% | |
| Initial non-responder | 71 | 108 | 179 | 39.7% | |
| Late non-responder | 1 | 11 | 12 | 8.3% | |
| No treatment | 53 (41.7%) | 30 (18.3%) | 83 (28.5%) | 63.9% | <0.001 d |
| Data unavailable | 2 (1.6%) | 0 | 2 (0.7%) | ||
| Renal biopsy | |||||
| FSGS | 78 (61.4%) | 87 (53.0%) | 165 (56.7%) | 47.3% | |
| Minimal change disease | 0 | 31 (18.9%) | 31 (10.7%) | 0% | |
| Others | 20 (15.7%) | 20 (12.2%) | 40 (13.7%) | 50.0% | |
| Not done | 27 (21.3%) | 23 (14.0%) | 50 (17.2%) | 54.0% | |
| Data unavailable | 2 (1.6%) | 3 (1.8%) | 5 (1.7%) | ||
| Renal function at the last FU | <0.001 e | ||||
| Normal eGFR | 17 (13.4%) | 96 (58.5%) | 113 (38.8%) | 15.0% | |
| CKD stages 2–4 | 11 (8.7%) | 18 (11.0%) | 29 (10.0%) | 37.9% | |
| ESRD | 97 (76.4%) | 47 (28.7%) | 144 (49.5%) | 67.4% | |
| Data unavailable | 2 (1.6%) | 3 (1.8%) | 5 (1.7%) | ||
| Duration (years) from onset to ESRD (n = 144) | 3.6 ± 4.3 | 5.0 ± 4.8 | 4.1 ± 4.5 | 0.091 | |
| Recurrence after renal transplantation (n = 100) | 0/64 (0%) | 9/36 (25.0%) | 9/100 (9.0%) | <0.0001 | |
a Sex of patients with WT1 mutations and sex reversal followed by their karyotypes; b Congenital onset group (27/35, 77.1%) versus other onset age groups (98/253, 38.7%); c Nephrotic syndrome group (61/177, 34.5%) versus other mode of onset groups (64/112, 57.1%); d No steroid treatment group (53/83, 63.9%) versus steroid non-responders (72/191, 37.7%); e Among three groups: normal eGFR, CKD stage 2–4, and ESRD groups.; FSGS, focal segmental glomerulosclerosis; eGFR, estimated glomerular filtration rate; CKD, chronic kidney disease; ESRD, end-stage renal disease; FU, follow-up.