Table 2.
Renal phenotype of patients with severe NPS nephropathy.
| Case | Sex | Age at onset of proteinuria | Degree of proteinuria | Age of ESRD | Age at the last follow-up | CKD stage | LMX1B variants |
|---|---|---|---|---|---|---|---|
| 5 | M | 7 | 1.5–2.0 g/day | 15 | 49 | 5 | c.783dupC (p.(Val262ArgfsTer)) |
| 6 | M | 9 | 1.5–2.5 g/day | – | 23 | 4 | c.793G>C (p.(Val265Leu)) |
| 7 | M | 3 | Nephrotic | 16 | 21 | 5 | c.793G>T (p.(Val265Phe)) |
| 8 | F | 3 | Nephrotic | – | 20 | 3 | c.793G>T (p.(Val265Phe)) |
| 13 | F | 7 | Nephrotic | – | 25 | 4 | c.819+1G>A |
Detailed clinical manifestations of patients with severe CKD or ESRD are shown.