Gene discovery and vesicoureteric reflux

Pediatr Nephrol. 2008 Jul;23(7):1021-7. doi: 10.1007/s00467-007-0704-y. Epub 2008 Feb 6.

Abstract

Vesicoureteric reflux (VUR) is a congenital urinary tract defect caused by abnormal insertion of the ureter within the bladder wall. This leads to a defective ureterovesical junction in which urine flows retrogradely from the bladder to the kidneys. Although VUR is associated with recurrent urinary tract infections, renal malformations, hypertension, and reflux nephropathy, its relationship to each of these clinical entities is poorly understood. Mutations in genes expressed by the developing kidney and urinary tract can cause VUR in mice, and some of these same genes have been identified in humans with VUR. By discovering the genes that are associated with VUR, new hypotheses will be generated such that, eventually, the relationship between VUR and its complications will be understood.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Disease Models, Animal
  • Gene Expression Regulation, Developmental*
  • Genetic Predisposition to Disease
  • Humans
  • Mice
  • Mice, Transgenic
  • Mutation*
  • Phenotype
  • Risk Factors
  • Ureter / abnormalities*
  • Vesico-Ureteral Reflux / complications
  • Vesico-Ureteral Reflux / genetics*
  • Vesico-Ureteral Reflux / pathology