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Vesicoureteric reflux and renal malformations: a developmental problem

I J Murawski1, I R Gupta

  • 1Department of Pediatrics and Human Genetics, Montreal Children's Hospital, McGill University, Montreal, Quebec, Canada.

Clinical Genetics
|January 26, 2006
PubMed

Insights

Vesicoureteric reflux (VUR) is a congenital defect with a genetic basis. Some VUR-related kidney damage may stem from congenital malformations, not solely reflux, suggesting shared genetic causes.

Area of Science:

  • Urology
  • Genetics
  • Developmental Biology

Background:

  • Vesicoureteric reflux (VUR) is a congenital urinary tract defect affecting up to 1% of the population.
  • VUR is linked to recurrent urinary tract infections and renal failure, with no decrease in end-stage renal disease incidence despite treatment.
  • Twin and family studies indicate a significant genetic component to VUR.

Purpose of the Study:

  • To investigate the genetic underpinnings of VUR.
  • To explore the relationship between VUR, congenital kidney malformations, and renal failure.
  • To identify genetic factors influencing ureteric budding and kidney development.

Main Methods:

  • Analysis of human and mouse genetic data.
  • Review of twin and family studies on VUR.
  • Examination of gene candidates regulating ureteric budding.

Main Results:

  • VUR has a demonstrable genetic basis.
  • Identified gene candidates are involved in ureteric budding during kidney and urinary tract development.
  • Evidence suggests some renal damage in VUR cases is congenital, arising from kidney malformations.

Conclusions:

  • The genetic basis of VUR may involve defects affecting both kidney and urinary tract formation.
  • Congenital kidney malformations could contribute to renal damage in VUR patients.
  • Shared genetic factors may underlie the co-occurrence of VUR and renal failure.

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