Table 2 Gene mutations and clinical features
No | Sex | Age at onset | Response for treatment | Pathology | Prognosis | Age at ESRF | Gene | Causative or predisposing mutation | Clinical features | |
|---|---|---|---|---|---|---|---|---|---|---|
15 | M | At birth | No trials | FSGS | ESRF | 11y3m | NPHS2 | c.[412c>t];[503g>a] | p.[R138X];[R168H] | No relapse after renal transplantation at age 11y4m Sister with FSGS died of renal failure at age 5 |
12 | M | 1y9m | Resistant | FSGS | ESRF | 2y2m | LAMB2 | c.[1406g>a];[2095g>c] | p.[R469Qa];[G699R] | No relapse after renal transplantation at age 7y2m No ocular symptoms No affected family members |
10 | M | 5y4m | Initially responsive | FSGS | ESRF | 7y6m | CD2AP | c.221g>t | p.R74Ma | FSGS relapsed after renal transplantation at age 8y1m No affected family members |
11 | M | 5y2m | Responsive Frequently relapse | FSGS | Complete remission | — | CD2AP | c.221g>t | p.R74Ma | No affected family members |
16 | F | 12y5m | Resistant | FSGS | ESRF | 23y11m | TRPC6 | c.2624a>t | p.E875Va | hemodialysis at age 23 Father had proteinuria; grandfather died of renal disease at age 30. |
19 | F | 6y7m | No trials | FSGS | ESRF | 16y6m | WT1 | c. [421a>c;745 c>a] | p.[K141Qa;P249Ta] | Daughter of case 20; bicornuate uterus Grandfather died of renal disease at age 42 |
20 | F | 10y | Unknown | NA | ESRF | 42y | WT1 | c. [421a>c;745 c>a] | p.[K141Qa;P249Ta] | Mother of case 19; bicornuate uterus Father died of renal disease at age 42 |
24 | M | 10y | Resistant | FSGS | ESRF | 16y11m | INF-2 | c.550g>a | p.E184K | No relapse after renal transplantation at age 20 No affected family members |
