Vesicoureteral reflux (VUR) is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys. It is a risk factor for urinary tract infections. Primary VUR results from a developmental defect of ... Vesicoureteral reflux (VUR) is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys. It is a risk factor for urinary tract infections. Primary VUR results from a developmental defect of the ureterovesical junction (UVJ). In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy (RN). Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, and renal insufficiency (summary by Lu et al., 2007). - Genetic Heterogeneity of Vesicoureteral Reflux A locus designated VUR1 maps to chromosome 1p13. VUR2 (610878) is caused by mutation in the ROBO2 gene (602431) on chromosome 3p12.3; VUR3 (613674) is caused by mutation in the SOX17 gene (610928) on chromosome 8q11.23; VUR4 (614317) maps to chromosome 5; VUR5 (614318) maps to chromosome 13; VUR6 (614319) maps to chromosome 18; and VUR7 (615390) maps to chromosome 12. A possible X-linked form has been reported (VURX; 314550).
Mulcahy et al. (1970) described a high familial incidence. The disorder is rare in blacks. Burger (1972) found 23 families with 2 or more affected first-degree relatives and added 7 more containing a total of 20 affected first-degree ... Mulcahy et al. (1970) described a high familial incidence. The disorder is rare in blacks. Burger (1972) found 23 families with 2 or more affected first-degree relatives and added 7 more containing a total of 20 affected first-degree relatives. The anatomic substrate was thought to be abnormally short intravesical ureter. Mother and at least 1 child were affected in 4 families. Fried et al. (1975) described 2 families, each with several affected children. In 1 family the mother had unilateral reflux. Investigating relatives is important because if the disorder is not treated, progressive renal damage may occur. Lewy and Belman (1975) observed vesicoureteral reflux in father and 3 sons. Van den Abbeele et al. (1987) studied 60 asymptomatic sibs of patients known to have vesicoureteral reflux, using radionuclide voiding cystography. Vesicoureteral reflux was detected in 27 of the 60 (45%). Reflux was unilateral in 15 and bilateral in 12. Van den Abbeele et al. (1987) stated that the gonadal dose with radionuclide cystography is low and recommended that this procedure should be used in screening all sibs of patients with known vesicoureteral reflux. Connolly et al. (1996) studied the natural history of vesicoureteral reflux as revealed by the clinical records and radionuclide cystograms of 76 girls and 32 boys of mean age 21 months with reflux detected in a sib screening program. Reflux resolved in 52.8% of cases at a mean follow-up of 18.5 months. Yearly resolution rates exceeded 28%. Predictors of the likelihood of resolution were not identified. By showing that spontaneous resolution is likely for children with this disorder, this study supported nonsurgical management with annual imaging evaluation.
Choi et al. (1998) studied 23 affected individuals from 8 families with primary familial VUR. Sanyanusin et al. (1995) demonstrated mutations in the PAX2 gene (167409.0001) in renal coloboma syndrome (120330), of which VUR is a part. By ... Choi et al. (1998) studied 23 affected individuals from 8 families with primary familial VUR. Sanyanusin et al. (1995) demonstrated mutations in the PAX2 gene (167409.0001) in renal coloboma syndrome (120330), of which VUR is a part. By use of SSCP, Choi et al. (1998) found no mutations in exons 2 to 5 of the PAX2 gene. In addition, a polymorphic dinucleotide repeat marker located within the PAX2 gene segregated independently of the disease. Choi et al. (1998) concluded that mutation in the PAX2 gene is not a major cause of primary familial reflux.
Lu et al. (2007) stated that VUR has an incidence of approximately 1 in 100 infants.
Reflux nephropathy resulting from vesicoureteral reflux is said to account for as much as 15% of end-stage renal disease in ... Lu et al. (2007) stated that VUR has an incidence of approximately 1 in 100 infants. Reflux nephropathy resulting from vesicoureteral reflux is said to account for as much as 15% of end-stage renal disease in children and young adults (Kincaid-Smith et al., 1984). In sibs and offspring of affected persons, the prevalence is as high as 50% (Van den Abbeele et al., 1987; Noe et al., 1992).