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Uromodulin and Vesico-Ureteral Reflux: A Genetic Study
Silvio Maringhini1, Rosa Cusumano2, Ciro Corrado2
1Department of Pediatrics, Istituto Mediterraneo per i Trapianti e Terapie ad Alta Specializzazione ISMETT, 90127 Palermo, Italy.
Biomedicines
|February 25, 2023
Summary
A common variant in the Uromodulin (UMOD) gene, rs4293393 TC, appears to increase the risk of kidney scarring in children with vesicoureteral reflux (VUR). This risk is present even with fewer urinary tract infections.
Area of Science:
- Nephrology
- Genetics
- Pediatrics
Background:
- Vesicoureteral reflux (VUR) is linked to urinary tract infections (UTI) and kidney scarring.
- Kidney damage in VUR is associated with reflux grade and UTI frequency, but other factors may contribute.
- Uromodulin (UMOD) is a kidney-specific protein involved in urinary tract health.
Purpose of the Study:
- To investigate the association between the UMOD gene variant rs4293393 and febrile UTI (FUTI) or renal scars in children with VUR.
- To determine if UMOD genotype influences the development of kidney damage in pediatric VUR patients.
Main Methods:
- A cohort of 31 children diagnosed with primary VUR was studied.
- Genotyping for the UMOD rs4293393 variant was performed.
- Presence of renal scars was assessed, and data on FUTI and reflux grade were collected.
Main Results:
- Renal scars were detected in 16 out of 31 patients.
- The UMOD rs4293393 TC genotype was found in 8 patients, 88% of whom had scars.
- The UMOD rs4293393 TT genotype was present in 23 patients, with 39% showing scars. Patients with TC genotype were younger and had fewer FUTI compared to TT genotype patients with scars.
Conclusions:
- The UMOD rs4293393 TC genotype may predispose children with VUR to renal scarring.
- This predisposition appears to be independent of the number of FUTI episodes.
- Further research is warranted to elucidate the role of UMOD variants in VUR-associated nephropathy.
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