Individual/age | Genetic diagnosisa | Age at ESRD | Proteinuria (mg/g Crea) | S-creatinine (μmoL)/eGFR (ml/min/1.73 m2) | Renal biopsy/sonography |
---|---|---|---|---|---|
Index (III-2) 32 years | c.485 T > C p.Leu162Pro (het) | 32 | 5700 | 222/15 | NA/atrophic kidneys |
Mother (II-1) 53 years | c.485 T > C p.Leu162Pro (het) | 50 | NA | >300/<15 | NA/atrophic kidneys |
Bother1 (III-1) 33 years | c.485 T > C p.Leu162Pro (het) | NA | 1600 | 95/98 | NA/normal kidneys |
Brother2 (III-3) 28 years | c.485 T > C p.Leu162Pro (het) | NA | 451 | 78/116 | NA/normal kidneys |
Brother3 (III-4) 20 year | c.485 T > C p.Leu162Pro (het) | NA | 177 | 77/124 | NA/normal kidneys |