ACE and AT1 receptor gene polymorphisms and renal scarring in urinary bladder dysfunction

Mirjana Kostić1, Aleksandra Stanković, Maja Zivković

  • 1University Children's Hospital, Belgrade, Serbia and Montenegro.

Insights

The angiotensin I-converting enzyme (ACE) I/D gene polymorphism is a significant risk factor for kidney scarring in children with bladder dysfunction. This finding highlights the ACE gene

Area of Science:

  • Genetics
  • Pediatric Nephrology
  • Urology

Background:

  • Bladder dysfunction (BD) in children can lead to progressive renal damage.
  • The renin-angiotensin system (RAS) plays a role in kidney function and disease.
  • Genetic factors may influence the development of renal scarring in pediatric BD.

Purpose of the Study:

  • To investigate the association between DNA polymorphisms in RAS genes and renal scar formation in pediatric patients with BD.
  • To identify genetic risk factors for kidney damage in children experiencing bladder dysfunction.

Main Methods:

  • Genotyping for the angiotensin I-converting enzyme (ACE) I/D polymorphism and angiotensin II type 1 receptor (ATR1) A1166C polymorphism using polymerase chain reaction.
  • Analysis of renal scarring using dimercaptosuccinic acid (DMSA) scans in 42 children with BD and 198 healthy controls.
  • Multivariate analysis to determine independent risk factors for renal scar formation.

Main Results:

  • The DD genotype of the ACE gene was significantly over-represented in children with renal scarring compared to controls and those without renal damage (P<0.05).
  • ACE I/D polymorphism, specifically the DD genotype, was identified as an independent risk factor for renal scar formation, conferring a 2.51-fold increased risk (OR 2.51, P=0.04).
  • The ATR1 A1166C gene polymorphism showed no significant association with parenchymal damage in pediatric BD patients.

Conclusions:

  • The ACE I/D gene polymorphism is an independent risk factor for renal parenchymal destruction in pediatric patients with bladder dysfunction.
  • Genetic predisposition, particularly the ACE DD genotype, contributes to the development of kidney scarring in this population.
  • Further research into genetic markers may aid in predicting and preventing renal damage in children with BD.

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