Table 1. Clinical features, molecular diagnosis, and outcome data of SRNS patients ( n = 18) .
| Patient identification | Gender | Age at enrollment in the study (mo) | SRNS (1—primary ; 2—secondary) | Onset of symptoms to steroid resistance (mo) | eGFR (mL/min/1.73 m 2 ) | Histopathology (MCD/FSGS) | Response to treatment (CR/PR/NR) | Gene involved | Genetic variant | Status of variant according to the ACMG criteria 18 | Outcome at 3 mo |
|---|---|---|---|---|---|---|---|---|---|---|---|
| P1 | M | 19 | 1 | 3 | 117.5 | MCD | CR | – | Alive | ||
| P2 | M | 40 | 1 | 16 | 87.76 | FSGS | CR | NPHS1 | c.1_274del?(;)c.1234G > T; p.Gly412 Cys | Pathogenic; cannot comment on zygosity as segregation studies were not done in parents | Alive |
| P3 | M | 14 | 1 | 4 | 147.64 | FSGS | CR | – | Alive | ||
| P4 | M | 122 | 2 | 2 | 69.17 | MCD | NR | – | Alive | ||
| P5 | F | 14 | 1 | 5 | 167.26 | MCD | CR | – | Death | ||
| P6 | M | 135 | 1 | 4 | 151.7 | MCD | CR | – | Alive | ||
| P7 | M | 91 | 2 | 13 | 92.51 | FSGS | PR | – | Alive | ||
| P8 | M | 62 | 2 | 23 | 113.57 | FSGS | NR | – | Alive and developed CKD | ||
| P9 | F | 196 | 1 | 2 | 101.87 | FSGS | NR | INF2 | c.574C > A;p.Pro192Thr | Likely pathogenic(heterozygous) | Alive |
| P10 | M | 110 | 1 | 7 | 99.1 | FSGS | NR | NPHS2 | c.695C > T; p.Thr232Ile | Pathogenic (homozygous) | Alive |
| P11 | M | 128 | 1 | 12 | 130.0 | MCD | CR | – | Alive | ||
| P12 | F | 26 | 1 | 4 | 112.8 | MCD | PR | – | Death | ||
| P13 | M | 47 | 1 | 6 | 100.1 | FSGS | CR | – | Alive | ||
| P14 | M | 42 | 2 | 10 | 121.14 | MCD | NR | – | Lost to follow-up | ||
| P15 | F | 27 | 1 | 3 | 90.86 | MCD | PR | – | Alive | ||
| P16 | M | 26 | 1 | 7 | 84.60 | MCD | CR | CRB2 | c.941–3C > T(;) c.2177G > A; p.Arg727His |
Unknown significance | Alive |
| P17 | M | 120 | 2 | 96 | 140.42 | FSGS | CR | – | Alive | ||
| P18 | F | 29 | 2 | 18 | 99.12 | FSGS | CR | – | Alive |
Abbreviations: ACMG, American College of Medical Genetics and Genomics; CR, complete response; eGFR, estimated glomerular filtration rate; FSGS, focal segmental glomerulosclerosis; MCD, minimal change disease; NR, not response; PR, partial response; SRNS, steroid-resistant nephrotic syndrome.