ESPN 53rd Annual Meeting

ESPN 2021


 
Uromodulin and Vesico-Ureteral Reflux. A genetic study
SILVIO MARINGHINI 1 ROSA CUSUMANO 2 CIRO CORRADO 2 GIOVANNI PAVONE 2 MARIA MICHELA DALESSANDRO 2 MARIA CHIARA SAPIA 2 SERENA ABBATE 1

1- DEPT PEDIATRICS, ISMETT, PALERMO, ITALY
2- PED NEPHROLOGY UNIT, CHILDRENS HOSPITAL, ARNAS CIVICO, PALERMO, ITALY
 
Abstract:

 Objectives

Vesico-ureteral reflux (VUR) is associated with urinary tract infections (UTI) and renal scars. The renal damage is correlated with the grade of reflux and the number of UTI, butother factors may have a role. Uromodulin (UMOD) is a protein produced by the renal tubular cells. Aim of our study is to evaluate if some UMOD genes are associated with febrile UTI (FUTI) and/or scars in children with VUR.

Methods

Inclusion criteria: children with documented VUR, DMSA study, normal eGFR and blood pressure and no other urinary tract malformation. Age, sex, grade of VUR, DMSA report, number of FUTI, were registered. Reflux grade (5 degree) was calculated as the mean of both ureters. Genotyping of rs4293393 was done on DNA extracted from white blood cells using PCR technique.

Results

A total of 31 patients with VUR were enrolled. Renal scars were detected in 16 children (age range 20-196, mean 89 months): 9 males and 7 females; reflux was grade 2.8 in both sexes, bilateral in 8; FUTI were 3.3 per patient. No scar was detected in 15 children (age range 6-170, mean 57 months): 8 males and 7 females; reflux grade was 2.3 in males and 2.2 in females, bilateral in 7; FUTI were 1.9 per patient.

Genotype rs4293393 TC (TC) was present in 10 pts, 9 (90%) had scars; genotype rs4293393 TT (TT), the most frequent in the general population, was found in 21 patients, 7 (33%) had scars. Among children with scars, those with TC compared to those with TT were younger (mean age 77 vs 101 months), their reflux grade was lower (2,5 vs 3,6), the number of FUTI was lower (2.9 vs 3.7 per patient).

Conclusions

Children with VUR carrying UMOD genotype rs4293393 TC are more prone to develop renal scars independently from FUTI.