The genetics of primary, nonsyndromic vesicoureteral reflux

Vesicoureteral reflux (VUR) is diverse in its natural history; the majority of cases resolve spontaneously, whereas others persist with the potential for complications such as recurrent urinary tract infection, renal scarring, hypertension, and compromised renal function. The management of VUR is controversial and confusing for patients, parents, and clinicians, primarily due to the inability to identify children at high risk for VUR or at risk for renal damage from reflux-induced scarring.

Genotype screening of specific subgroups of patients may identify genetic markers for predicting in whom VUR will or will not spontaneously resolve and those at risk for renal scarring and its sequelae. In this review, we will analyze the recent literature regarding specific genes and chromosome regions involved in primary, nonsyndromic VUR.

Previous studies demonstrate the genetic heterogeneity of VUR. It is likely that different forms of VUR with different genetic determinates are present. The observed heterogeneity in linkage analysis results may just be a reflection of the diverse genes involved depending on the demographics of the population being evaluated. Although far from completion, current research collectively has began to shed some insights into our understanding of the complex nature of the genetics of primary, nonsyndromic VUR.