Table 4.
Mutation screening results.
| WT1 | NPHS1 | NPHS2 | ADCK4 | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Heterozygous | Compound heterozygous | Hom mutation | Compound heterozygous | Hom mutation | Compound heterozygous | |||||||
| Non-truncating | Truncating | Truncating +truncating | Truncating +missense | Missense | Truncating | Truncating + truncating | Truncating + missense | Missense | Missense + missense | Truncating + missense | ||
| (n = 12) | (n = 20) | (n = 9) | (n = 9) | (n = 2) | (n = 4) | (n = 5) | (n = 4) | (n = 6) | (n = 4) | (n = 3) | ||
| Age of onset | 1–3 m | 2 | 1 | 9 | 8 | 0 | 0 | 1 | 1 | 1 | 0 | 0 |
| 3 m−1 y | 3 | 3 | 0 | 0 | 0 | 3 | 0 | 0 | 0 | 0 | 1 | |
| 1–2 y | 5 | 4 | 0 | 0 | 0 | 1 | 2 | 2 | 2 | 1 | 0 | |
| 3–5 y | 0 | 3 | 0 | 1 | 0 | 0 | 1 | 0 | 1 | 0 | 1 | |
| 6–12 y | 1 | 6 | 0 | 0 | 1 | 0 | 1 | 1 | 2 | 3 | 1 | |
| ≥12 y | 1 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | |
| Renal Outcome at follow-up | Normal eGFR | 1 | 5 | 2 | 2 | 1 | 2 | 3 | 2 | 2 | 1 | 0 |
| CKD stages 2–4 | 1 | 3 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
| ESKD/RRT | 2 | 6 | 1 | 0 | 0 | 1 | 2 | 2 | 2 | 2 | 2 | |
| Mortality | 5 | 3 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
| Data unavailable | 3 | 3 | 3 | 3 | 1 | 1 | 0 | 0 | 2 | 1 | 1 | |
CKD, chronic kidney disease; ESKD, end-stage kidney disease; RRT, Renal replacement therapy (hemodialysis, peritoneal dialysis, kidney transplantation).