Table 1.
Clinical characteristics of affected family members
| 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 |
ESRD end-stage renal disease, het heterozygous, NA not annotated, yr years
acDNA mutations are numbered according to human cDNA reference sequence NM_022489.3 (INF2), where +1 corresponds to the A of ATG start translation codon