Table 1.
Genotypes and renal phenotypes of the patients.
| Pt | Age (Year) at | Mode of Onset | Family History | Mutations (REFSEQ: NM_000458.3) | Kidney Imaging | Latest eGFR | |
|---|---|---|---|---|---|---|---|
| Onset | Dx | ||||||
| 1 | 0.0 | 14.1 | Abnormal prenatal USG | DM | c.443C > T (p.S148L) | Hypo (B), HE (B) | 113 b |
| 2 | 11.1 | 13.1 | DM | No | c.503T > C (p.L168P) | Cyst (B), HE (B) | 36 |
| 3 | 0.0 | 11.6 | Incidental renal cysts | DM, Cyst | Total deletion | Cyst (B), HN (B) | 105 |
| 4 | 0.0 | 12.0 | Abnormal prenatal USG | No | Total deletion | Cyst (B) | 80 |
| 5 | 0.1 | 16.7 | Incidental azotemia | DM | Total deletion | Cyst (R), HE (R), MCDK (L), HN (R) | 69 b |
| 6 | 0.0 | 0.2 | Incidental azotemia | DM | c.541C > T (p.R181*) | Cyst (L), MCDK (B) | 69 b |
| 7 | 7.1 | 8.6 | Recurrent UTI | No | c.439C > G (p.Q147E) a | Cyst (B), HE (B) | 9 |
| 8 | 8.9 | 19.6 | Incidental proteinuria | No | c.313G > A (p.E105K) a | Cyst (R), VUR (L) | 40 b |
| 9 | 0.0 | 2.7 | Abnormal prenatal USG | DM | c.1103_1116del14 (p.H368Rfs*27) a | Cyst (R), HE (R), MCDK (L) | 53 |
| 10 | 0.0 | 12.6 | Abnormal prenatal USG | No | Total deletion | Cyst (R), HE (R), MCDK (L), HN (R) | 31 |
| 11 | 0.2 | 18.3 | Azotemia with recurrent UTI | No | Total deletion | HE (B), VUR (B) | 105 b |
| 12 | 0.1 | 15.6 | Abnormal prenatal USG | DM | Total deletion | Cyst (B), HE (B) | 124 |
| 13 | 20.9 | 21.4 | Incidental azotemia | Cyst | c.454delC (p.Q152fs*9) a | Cyst (B) | 64 |
| 14 | 10.5 | 10.6 | Incidental azotemia | DM, Cyst | c.1235delC (p.P412Qfs*5) a | Cyst (B), HE (B) | 44 |
a Novel mutations. b Patients who received renal transplantation. Pt, patient; Dx, diagnosis; eGFR, estimated glomerular filtration rate (mL/min/1.73 m2); USG, ultrasonography; DM, diabetes mellitus; UTI, urinary tract infection; Cyst, multiple renal cysts; Hypo, renal hypoplasia; HE, renal parenchymal hyperechogenicity; HN, hydronephrosis; MCDK, multicystic dysplastic kidney; B, bilateral; L, left; R, right; VUR, vesicoureteral reflux.