References | gender | The onset age(year) | Age of ESRD Onset(year) | Mutations Region | Mutations type | Sequence Changes | Protein Changes | Renal Pathology | Therapy | treatment response | Renal outcome | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | This report | female | 8 | 10 | Exon 9 | Missense mutation | c.748C > T | p.R250W | PSG | MP → P + MMF → CTX → HD → KT | Resistant | ESRD |
2 | Li J,Ding J, et al. [12] | female | 0.3 | 3 | Exon 9 | splice mutation | c.IVS9 + 5G > A | p.D396N | FSGS | GC → CsA | Resistant | ESRD |
3 | female | 1 | 1.3 | Exon 9 | Splice mutation | c.IVS9 + 5G > A | p.D396N | — | GC → CTX | Resistant | ESRD | |
4 | Liang-zhong sun.et al. [2] | female | 0.5 | 0.5 | Exon 8 | Missense mutation | c.1097G > A | p.R366H | DMS | _ | — | _ |
5 | female | — | — | Exon 8 | Missense mutation | c.1097G > A | p.R366H | — | _ | — | _ | |
6 | female | — | — | Exon 9 | Missense mutation | c.1180C > T | p.R394W | FSGS | P → FK506 | Complete remission | Normal | |
7 | female | 0.1 | 0.1 | Exon 9 | Missense mutation | c.1180C > T | p.R394W | DMS | _ | — | _ | |
8 | female | — | 9 | Exon 9 | Missense mutation | c.1180C > T | p.R394W | DMS | P → HD → KT | Resistant | Normal | |
9 | Yue Z, et al [4] | female | 0.4 | 0.4 | Intron 9 | splice mutation | c.1228 + 4C > T | _ | _ | - | ESRD | |
10 | female | 9 | _ | Intron 9 | splice mutation | c.1228 + 4C > T | _ | FSGS | P + MP → MZ → MMF → FK506 | — | Normal | |
11 | female | 1 | 6.8 | Intron 9 | splice mutation | c.1228 + 5G > A | _ | MCD | P → MMF → MP + CSA → FK506 | improve | ESRD | |
12 | female | 5 | _ | Exon 9 | Missense mutation | c.1180 C > T | p.R394W | FSGS | P → FK506 | Resistant | Normal | |
13 | female | 0 | 0.2 | Exon 9 | Missense mutation | c.1180 C > T | p.R394W | DMS | - | Complete remission | ESRD | |
14 | Yang Yonghui et al. [11] | female | 0.5 | 0.5 | Exon 8 | Missense mutation | c.1097 G > A | p.R366H | DMS | - | — | ESRD |
15 | female | 2 | _ | Exon 9 | Missense mutation | c.1180C > T | p.R394W | _ | - | — | Normal | |
16 | female | 8.1 | _ | Exon 9 | splice mutation | c.1051A > G | p.D396N | _ | _ | Resistant | ||
17 | male | 6.3 | 6.3 | Exon 8 | Missense mutation | c.1051A > G | p.K351E | _ | HD | Resistant | ESRD |