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

The objective of this study was to investigate whether DNA polymorphisms of the renin-angiotensin system (RAS) genes were associated with renal scar formation in pediatric patients with bladder dysfunction (BD). Although these children are born healthy, due to persistence of immature voiding habits...

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Published in:Pediatric nephrology (Berlin, West) West), 2004-08, Vol.19 (8), p.853-857
Main Authors: Kostic, Mirjana, Stankovic, Aleksandra, Zivkovic, Maja, Peco-Antic, Amira, Jovanovic, Olga, Alavantic, Dragan, Kruscic, Divna
Format: Article
Language:English
Subjects:
Adolescent
Bladder
Child
Child, Preschool
Chronic illnesses
Cicatrix - etiology
Cicatrix - genetics
Congenital diseases
Creatinine
Endocrine system
Enzymes
Female
Genes
Genotype
Genotype & phenotype
Humans
Kidney Diseases - etiology
Kidney Diseases - genetics
Kidneys
Male
Patients
Pediatrics
Peptidyl-Dipeptidase A - genetics
Polymorphism
Polymorphism, Genetic
Prospective Studies
Receptor, Angiotensin, Type 1 - genetics
Scars
Urinary incontinence
Urinary Incontinence - complications
Urinary Incontinence - genetics
Urinary tract infections
Urogenital system
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Summary:The objective of this study was to investigate whether DNA polymorphisms of the renin-angiotensin system (RAS) genes were associated with renal scar formation in pediatric patients with bladder dysfunction (BD). Although these children are born healthy, due to persistence of immature voiding habits and evolution of BD, some develop progressive renal damage. It has been suggested that the DD genotype of the angiotensin I-converting enzyme (ACE) gene might be an adverse renal prognostic factor. The insertion/deletion (I/D) polymorphism of the ACE gene and the A1166C polymorphism of the angiotensin II type 1 receptor (ATR1) gene were identified by polymerase chain reaction amplification in 42 children with BD (aged 5-14 years) and 198 healthy adult controls. Twelve children had urgency syndrome and 30 had dysfunctional voiding. Renal scarring was found in 16 patients, while 26 patients had normal kidneys on dimercaptosuccinic acid scan. In children with renal lesions there was significant over-representation of the DD genotype compared with either controls or patients without renal damage ( P
ISSN:0931-041X
1432-198X
DOI:10.1007/s00467-004-1511-3