Table 1.
Clinical characteristics of patients who had NS and presented NPHS1 mutationsa
| NPHS1 | Mutations and Variants Nt change; Aa Change (n) | N | Gender | Age at Onset (yr) | Histology | Response to Steroids | Response to CsA | ESRD (n) | Age at ESRD (yr) |
|---|---|---|---|---|---|---|---|---|---|
| Homozygous or compound heterozygous | c.3233; p.A1078D Homo (1) c.1707 C→A; p.S596R Homo (1) c.3312-1G→A; frameshift Homo (1) [c.658T→G; p.S220A + c.3230A→G; p.N1077S] (1) [c.468C→G; p.Y156X + c.3230A→G; p.N1077S] (1) [c.2491C→T; p.R831C + c.3250insG; p.G1083fsX] (2) [c.2491C→T; p.R831C + c.2131C→T; p.R711C] (1) [c.2614delG; p.N870fsX + c.2776C→T; p.L926F] (1) [c.456delT; p.G153fsX; + c.2131C→A; p.R711S] (1) [c.121delCT; p.N40fsX; + c.1135C→T; p.R379W] (1) | 11 | M: 6 F: 5 | 0.9 (0 to 3) | CNF: 11 | NA: 11 | NA: 11 | 9b | 4 (0 to 14) |
| Heterozygous | c.59-5C→G; frameshift (1) c.563A→T; p.N188I (2) c.1379G→A; p.R460Q (1)c.2491C→T; p.R831C (2) c.2746G→T; p.A916S (1) | 7 | M: 4 F: 3 | 6.5 (1 to 16) | None: 1 FSGS: 2MCN: 3 | Good: 5 Poor: 2 | NA: 2 Good: 4 Poor: 1 | 0 | |
| No NPHS1/NPHS2 mutations | 221 | M: 138F: 83 | 17 (0 to 68) | None: 51 FSGS: 129 IgM: 22 MCN: 19 | NA: 5 Good: 33 Poor: 183 | NA: 128 Good: 46 Poor: 47 | 92 | 21 (3 to 64) |
a
Continuous variables are mean (range). Aa, amino acid; CNF, congenital nephrosis of the Finnish type; Homo, homozygous; IgM, mesangial proliferation with IgM deposition; MCN, minimal-change nephropathy; NA, not administered; NS, nephrotic syndrome; Nt, nucleotide.
b
Two patients died before ESRD.