Table 1.
SOX17 Mutation Analysis of Subjects with Vesicoureteral Reflux (VUR), DMSA-Positive (DMSA+UTI), and Renal Scars Associated with Recurrent Urinary Tract Infections
| Number (n) | Sex (M/F) | SOX17 p.Y259N n | SOX17 p.G178C n | SOX17 p.Q17_S18insTQ n | Diagnosis (grade, position) | Tc99m DMSA | |
|---|---|---|---|---|---|---|---|
| CAKUT | |||||||
| 58 (10 fam.) | 26/32 | 4 | |||||
| Familial cases | Fam.1, II.1 | F | het | VUR (III grade, R&L) double pelvis | Renal scars | ||
| Fam.1, I.2 | F | het | VUR (IV grade, R) | Normal | |||
| Fam.2, II.1 | M | het | VUR (III grade, L) | Normal | |||
| Fam. 2, I.2 | F | het | VUR (III grade, L) | Renal scars | |||
| Sporadic cases | 178 | 57/121 | 2 | 1 | 1 | ||
| Pt 180 | F | het | ureter dilatation L | Renal scars | |||
| Pt 240 | F | het | VUR (III grade, L) | Renal scars | |||
| Pt 253 | M | het | VUR (I grade, R&L) | Renal scars | |||
| pt 36 | M | het | VUR (III grade, R&L) | Renal scars | |||
| Controls (CT) | 88 | 40/48 | 1 | ||||
| ct 1 | M | het | n.a | n.a | |||
| Cord blood | 82 | 40/42 | 0 | ||||
| Nephrotic syndrome | 135 | 60/75 | 0 | ||||
Three groups of unselected control subjects were also analyzed. One of this included children with nephrotic syndrome who were excluded for VUR. VUR=vesicoureteral reflux; UTI, urinary tract infections; n, number; M, male; F, female; het, heterozygote; L, left; R, right; Tc99m DMSA, Technetium99-dimercaptosuccinic acid; n.a, not available.