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Updated: Jun 18, 2026

An Immature Murine Model of Reversible Unilateral Ureteral Obstruction
06:37

An Immature Murine Model of Reversible Unilateral Ureteral Obstruction

Published on: April 4, 2025

Exploring precision risk in pediatric vesicoureteral reflux: Innate immune gene variations and reflux outcomes in the

Jin Kyu Kim1, Rosalia Misseri1, Joshua Roth1

  • 1Department of Urology, Riley Hospital for Children, United States.

Journal of Pediatric Urology
|June 16, 2026
PubMed

Insights

Genetic variations in innate immune genes like DEFA1A3 influence urinary tract infection outcomes in children with vesicoureteral reflux (VUR). High DEFA1A3 copy number improved VUR, while DMBT1 interacted with prophylaxis for resolution.

Area of Science:

  • Genetics
  • Immunology
  • Pediatrics

Background:

  • Children with vesicoureteral reflux (VUR) face increased risks from recurrent urinary tract infections (UTIs).
  • Factors influencing spontaneous VUR resolution are not well understood.
  • This study investigates genetic variations in urinary innate immune genes (DEFA1A3, DMBT1, RNASE7) and their impact on VUR resolution and response to prophylaxis.

Purpose of the Study:

  • To evaluate if genetic variations in DEFA1A3, DMBT1, and RNASE7 influence VUR resolution in children.
  • To determine if these genetic variations interact with prophylactic treatment to alter clinical outcomes.
  • To identify potential genetic biomarkers for predicting VUR outcomes.

Main Methods:

  • Secondary analysis of 303 RIVUR participants with DEFA1A3 and DMBT1 copy number variation (CNV) and RNASE7 genotype data.
  • Primary outcomes assessed were VUR improvement (grade decrease) and VUR resolution.
  • Multivariable logistic regression models were used, adjusting for clinical covariates and including genotype-treatment interactions. Internal validation employed bootstrapping.

Main Results:

  • Higher DEFA1A3 copy number (>5) was significantly associated with increased odds of VUR improvement (OR 2.36, p=0.023).
  • High-grade VUR was linked to lower odds of resolution (OR 0.34, p=0.038).
  • A significant interaction between DMBT1 copy number and prophylaxis was observed for VUR resolution (interaction OR 2.99, p=0.031). RNASE7 genotype showed no association.

Conclusions:

  • Innate immune gene variations may explain the heterogeneity in VUR outcomes.
  • High DEFA1A3 copy number is linked to reflux improvement, and DMBT1 interacts with prophylaxis for resolution.
  • These findings are hypothesis-generating, suggesting potential genotype-based benefits from prophylaxis or a more favorable natural history.
Abstract

Keywords:
DEFA1A3DMBT1ImprovementResolutionVURVesicoureteral reflux

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