Table 2.
NPHS2 V260E in 64 black and Indian SSNS and SRNS patients in the discovery cohort
| NPHS2 genotype | Black patients n = 31 |
Indian patients n = 33 |
||
|---|---|---|---|---|
| 260V/V n = 23 | 260E/E n = 8 | 260V/V n = 33 | 260E/E n = 0 | |
| SSNS | 1 | 0 | 14 | 0 |
| SRNS | 22 | 8 | 19 | 0 |
| FSGS | 16 (73%) | 8 (100%) | 14 (74%) | 0 |
| Other histologies | 6 (27%) | 0 | 5 (26%) | 0 |
FSGS, focal segmental glomerulosclerosis; SRNS, steroid-resistant nephrotic syndrome; SSNS, steroid-sensitive nephrotic syndrome.
Only children who showed no remission in proteinuria after a 4-week course of glucocorticoid treatment underwent renal biopsy. Data are the number of NPHS2 V260E genotypes in the nephrotic syndrome discovery cohort. No steroid-sensitive case carried the NPHS2 260E mutation, and the mutation was not observed in Indian patients. NPHS2 V260E homozygosity was specifically associated with FSGS histology.