Title:Genetics of Vesicoureteral Reflux
Volume: 17
Issue: 1
Author(s): F. Nino, M. Ilari, C. Noviello, L. Santoro, I.M. Ratsch, A. Martino and G. Cobellis
Affiliation:
Keywords:
Genetic association, Genetic linkage, Prune belly syndrome, Ureteric bud, Uretero-vesical junction, Vesicoureteral
reflux.
Abstract: Vesicoureteral reflux (VUR) is the retrograde passage of urine from the bladder to the upper
urinary tract. It is the most common congenital urological anomaly affecting 1-2% of children and
30-40% of patients with urinary tract infections. VUR is a major risk factor for pyelonephritic scarring
and chronic renal failure in children. It is the result of a shortened intravesical ureter with an enlarged
or malpositioned ureteric orifice. An ectopic embryonal ureteric budding development is implicated in
the pathogenesis of VUR, which is a complex genetic developmental disorder. Many genes are involved
in the ureteric budding formation and subsequently in the urinary tract and kidney development. Previous studies
demonstrate an heterogeneous genetic pattern of VUR. In fact no single major locus or gene for primary VUR has been
identified. It is likely that different forms of VUR with different genetic determinantes are present. Moreover genetic studies
of syndromes with associated VUR have revealed several possible candidate genes involved in the pathogenesis of
VUR and related urinary tract malformations. Mutations in genes essential for urinary tract morphogenesis are linked to
numerous congenital syndromes, and in most of those VUR is a feature. The Authors provide an overview of the developmental
processes leading to the VUR. The different genes and signaling pathways controlling the embryonal urinary
tract development are analyzed. A better understanding of VUR genetic bases could improve the management of this condition
in children.
