Table 2 Detected variants and corresponding clinical outcome.
No | Family history | Gene | Nucleotide change | Effect on peptide sequence | ACMG | Gender | Diagnosis age | Creatinine μmol/L | Uric acid μmol/L | Renal cyst | Interstitial `fibrosis | Treatment | Follow-up (year) | ESRD (yes/no)/age |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
F1 | No | UMOD | c.104G > A | p.Cys35Tyr | Pathogenic | Male | 20 | 163 | 749 | No | NA | XO inhibitors | 4 | No/24 |
F2 | No | UMOD | c.1039 T > C | p.Cys347Arg | Pathogenic | Female | 22 | 154 | 691 | No | Yes | XO inhibitors | 5 | No/27 |
F3 | Yes | UMOD | c.113A > T | p.Asn38Ile | Pathogenic | Female | 38 | 155 | 253 | No | NA | No | 2 | Yes/40 |
F4 | Yes | UMOD | c.197 T/C | p.Leu66Pro | Pathogenic | Male | 44 | 203 | 380 | Yes | Yes | BP-lowering drugs | 5 | No/49 |
F5 | Yes | UMOD | c.272delC | p.Ser91 | Pathogenic | Male | 50 | 317 | 414 | Yes | NA | BP-lowering drugs | 2 | Yes/52 |
F6 | No | UMOD | c.326 T/A | p.Val109Glu | Pathogenic | Male | 18 | 195 | 489 | No | NA | XO inhibitors | 2 | Yes/20 |
F7 | Yes | UMOD | c.334 T > G | p.Cys112Gly | Pathogenic | Female | 41 | 250 | 540 | No | NA | XO inhibitors | 0 | No/41 |
F8 | Yes | UMOD | c.707 C/A | p.Pro236Gln | Pathogenic | Female | 24 | 230 | 606 | No | Yes | XO inhibitors + BP-lowering | 2 | Yes/26 |
F9 | Yes | UMOD | c.744C/G | p.Cys248Trp | Pathogenic | Female | 21 | 136 | 433 | Yes | NA | No | 5 | No/26 |
F10 | Yes | UMOD | c.860G. > T | p.Cys287Phe | Pathogenic | Female | 41 | 182 | 474 | Yes | NA | BP-lowering drugs | 4 | No/45 |
F11 | Yes | UMOD | c.1153C > T | p.Arg385Trp | Likely pathogenic | Male | 22 | 469 | 781 | No | Yes | XO inhibitors | 3 | Yes/25 |
F12 | Yes | REN | c.95A > C | p.Lys32Thr | Uncertain significance | Male | 34 | 158 | 617 | Yes | NA | XO inhibitors + BP-lowering | 1 | No/35 |
F13 | Yes | HNF1B | c.884G > A | p.Arg295His | Likely pathogenic | Male | 34 | 158 | 484 | No | NA | XO inhibitors + antidiabetic drugs | 4 | No/38 |
