Table 2.
Clinical characteristics of patients who had NS and presented NPHS2 mutationsa
| NPHS2 | 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.419delG; p.G140fsX Homo (5) c.413G→A; p.R138Q Homo (3) c.506T→C; p.L169P Homo (2) [c.412C→T; p.R138X + c.413G→A; p.R138Q] (2) [c.419delG; p.G140fsX + c.506T→C; p.L169P] (1) [c.413G→A; p.R138Q + c.538G→A; p.V180M] (1) [c.413G→A; p.R138Q + c.855_56delAA; p. Q285fsX] (1) [c.413G→A; p.R138Q + c.973C→T; p.H325Y] (1) [c.467_468insT; p.L156fsX + c.538G→A; p.V180M] (1) | 17 | M: 11 F: 6 | 4 (0 to 18) | None: 4 FSGS: 11 IgM: 1 MCN: 1 | Poor: 17 | NA: 9 Good: 1 Poor: 8 | 13 | 8 (3 to 20) |
| p.P20L heterozygous | c.59C→T; p.P20L (6) | 6 | M: 5F: 1 | 15 (2 to 64) | None: 2 FSGS: 3 IgM: 1 | Good: 2 Poor: 4 | NA: 4 Good: 1 Poor: 1 | 2 | 8 (7 to 9) |
| p.R229Q heterozygous | c.686G→A; p.R229Q (21) | 21 | M: 13 F: 8 | 12 (1 to 42) | None: 7 FSGS: 8 IgM: 3 MCN: 3 | Good: 6 Poor: 15 | NA: 12 Good: 8 Poor: 1 | 6 | 22 (1 to 50) |
| Others | c.419delG; p.L139fsX (1) c.451 + 3insA; frameshift (1) c.555delT; p.M184fsX (1)c.631T→A; p.S211T (1) c.872G→A; p.R291Q (2) | 6 | M: 4 F: 2 | 10 (1 to 34) | None: 2 FSGS: 2 MCN: 2 | Good: 3 Poor: 3 | NA: 4 Good: 1 Poor: 1 | 2 | 22 (6 to 38) |
| No NPHS1/NPHS2 mutations | 221 | M: 138 F: 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).