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Published on: October 12, 2017
Genetics of vesicoureteral reflux
Prem Puri1, Jan-Hendrik Gosemann, John Darlow
1National Children's Research Centre, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland. prem.puri@ucd.ie
Insights
Primary vesicoureteral reflux (VUR), a common childhood urinary anomaly, often runs in families. Genetic factors are crucial, but VUR
Area of Science:
- Pediatric Urology
- Genetics
- Nephrology
Background:
- Primary vesicoureteral reflux (VUR) is the most common pediatric urological anomaly, affecting 1-2% of children.
- VUR is a significant risk factor for urinary tract infections (UTIs), reflux-associated nephropathy, childhood hypertension, and chronic renal failure.
- The hereditary nature of VUR is evident, with siblings of affected children showing a higher incidence of reflux.
Purpose of the Study:
- To explore the genetic underpinnings of primary vesicoureteral reflux (VUR).
- To acknowledge the genetic heterogeneity of VUR and the need for further genetic research.
Main Methods:
- Review of existing studies on VUR inheritance patterns.
- Analysis of familial clustering data for VUR.
- Consideration of advancements in genome-scan techniques.
Main Results:
- VUR demonstrates significant familial aggregation, indicating a strong genetic component.
- No single major gene or locus has been identified for VUR to date.
- VUR is recognized as a genetically heterogeneous condition.
Conclusions:
- Genetic factors play a pivotal role in the pathogenesis of VUR.
- Further research utilizing advanced genomic techniques is essential to elucidate the complex genetic basis of VUR.
- Understanding the genetic architecture of VUR is crucial for improving diagnosis and management.
Abstract:
Primary vesicoureteral reflux (VUR) is the most common urological anomaly in children, affecting 1-2% of the pediatric population and 30-40% of children presenting with urinary tract infections (UTIs). Reflux-associated nephropathy is a major cause of childhood hypertension and chronic renal failure. The hereditary and familial nature of VUR is well recognized and several studies have reported that siblings of children with VUR have a higher incidence of reflux than the general pediatric population. Familial clustering of VUR implies that genetic factors have an important role in its pathogenesis, but no single major locus or gene for VUR has yet been identified and most researchers now acknowledge that VUR is genetically heterogeneous. Improvements in genome-scan techniques and continuously increasing knowledge of the genetic basis of VUR should help us to further understand its pathogenesis.
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