Table 1.
Clinical features of affected and unaffected family members
| Family ID | Age at presentation | Renal phenotype | ESRD | Comments |
|---|---|---|---|---|
| I:2 | Unknown | Haematuria/nephrotic-range proteinuria. Renal biopsy non-diagnostic | No | Died aged 45 years of myocardial infarction |
| II:1 | Unaffected | |||
| II:2 | Age 27 years with proteinuria | CKD stage 2 aged 60, biopsy non-diagnostic | No | |
| II:3 | Age 15 years with proteinuria | Progressive proteinuria and renal impairment | Age 28 years | Renal transplant X3 (graft loss secondary to chronic allograft nephropathy X2 and transplant pyelonephritis) |
| II:4 | Age 53 years with proteinuria | Minimal proteinuria, preserved renal function | No | |
| II:5 | Age 16 years with proteinuria | Progressive nephrotic-range proteinuria, exacerbated by pregnancy. Renal biopsy (aged 30 years) showed early mesangial proliferative glomerulonephritis |
Age 40 years | Renal transplant X2 (graft loss secondary to acute cellular rejection and chronic allograft nephropathy) |
| II:6 | Unaffected | Living-related kidney donor to II:3 | ||
| II:7 | Age 23 years with proteinuria | Progressive nephrotic-range proteinuria and renal impairment. Renal biopsy inconclusive |
Age 44 years | |
| III:3 | Age 36 years with proteinuria | CKD stage 2 aged 41 years. Subnephrotic proteinuria |
No |