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Uromodulin and Vesico-Ureteral Reflux: A Genetic Study

Vesicoureteral reflux (VUR) is associated with urinary tract infections (UTI) and renal scars. The kidney damage is correlated with the grade of reflux and the number of UTI, but other factors may also play a role. Uromodulin (UMOD) is a protein produced by kidney tubular cells, forming a matrix in...

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Autores principales: Maringhini, Silvio, Cusumano, Rosa, Corrado, Ciro, Puccio, Giuseppe, Pavone, Giovanni, D’Alessandro, Maria Michela, Sapia, Maria Chiara, Devuyst, Olivier, Abbate, Serena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9952937/
https://www.ncbi.nlm.nih.gov/pubmed/36831047
http://dx.doi.org/10.3390/biomedicines11020509
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author Maringhini, Silvio
Cusumano, Rosa
Corrado, Ciro
Puccio, Giuseppe
Pavone, Giovanni
D’Alessandro, Maria Michela
Sapia, Maria Chiara
Devuyst, Olivier
Abbate, Serena
author_facet Maringhini, Silvio
Cusumano, Rosa
Corrado, Ciro
Puccio, Giuseppe
Pavone, Giovanni
D’Alessandro, Maria Michela
Sapia, Maria Chiara
Devuyst, Olivier
Abbate, Serena
author_sort Maringhini, Silvio
collection PubMed
description Vesicoureteral reflux (VUR) is associated with urinary tract infections (UTI) and renal scars. The kidney damage is correlated with the grade of reflux and the number of UTI, but other factors may also play a role. Uromodulin (UMOD) is a protein produced by kidney tubular cells, forming a matrix in the lumen. We evaluated whether the common variant rs4293393 in the UMOD gene was associated with febrile UTI (FUTI) and/or scars in a group of children with VUR. A total of 31 patients with primary VUR were enrolled. Renal scars were detected in 16 children; no scar was detected in 15 children. Genotype rs4293393 TC (TC) was present in 8 patients, 7 (88%) had scars; genotype rs4293393 TT (TT) was found in 23 patients, and 9 (39%) had scars. Among children with scars, those with TC compared with those with TT were younger (mean age 77 vs. 101 months), their reflux grade was comparable (3.7 vs. 3.9), and the number of FUTI was lower (2.9 vs. 3.7 per patient). Children with VUR carrying UMOD genotype rs4293393 TC seem more prone to developing renal scars, independent of FUTI.
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spelling pubmed-99529372023-02-25 Uromodulin and Vesico-Ureteral Reflux: A Genetic Study Maringhini, Silvio Cusumano, Rosa Corrado, Ciro Puccio, Giuseppe Pavone, Giovanni D’Alessandro, Maria Michela Sapia, Maria Chiara Devuyst, Olivier Abbate, Serena Biomedicines Brief Report Vesicoureteral reflux (VUR) is associated with urinary tract infections (UTI) and renal scars. The kidney damage is correlated with the grade of reflux and the number of UTI, but other factors may also play a role. Uromodulin (UMOD) is a protein produced by kidney tubular cells, forming a matrix in the lumen. We evaluated whether the common variant rs4293393 in the UMOD gene was associated with febrile UTI (FUTI) and/or scars in a group of children with VUR. A total of 31 patients with primary VUR were enrolled. Renal scars were detected in 16 children; no scar was detected in 15 children. Genotype rs4293393 TC (TC) was present in 8 patients, 7 (88%) had scars; genotype rs4293393 TT (TT) was found in 23 patients, and 9 (39%) had scars. Among children with scars, those with TC compared with those with TT were younger (mean age 77 vs. 101 months), their reflux grade was comparable (3.7 vs. 3.9), and the number of FUTI was lower (2.9 vs. 3.7 per patient). Children with VUR carrying UMOD genotype rs4293393 TC seem more prone to developing renal scars, independent of FUTI. MDPI 2023-02-10 /pmc/articles/PMC9952937/ /pubmed/36831047 http://dx.doi.org/10.3390/biomedicines11020509 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Brief Report
Maringhini, Silvio
Cusumano, Rosa
Corrado, Ciro
Puccio, Giuseppe
Pavone, Giovanni
D’Alessandro, Maria Michela
Sapia, Maria Chiara
Devuyst, Olivier
Abbate, Serena
Uromodulin and Vesico-Ureteral Reflux: A Genetic Study
title Uromodulin and Vesico-Ureteral Reflux: A Genetic Study
title_full Uromodulin and Vesico-Ureteral Reflux: A Genetic Study
title_fullStr Uromodulin and Vesico-Ureteral Reflux: A Genetic Study
title_full_unstemmed Uromodulin and Vesico-Ureteral Reflux: A Genetic Study
title_short Uromodulin and Vesico-Ureteral Reflux: A Genetic Study
title_sort uromodulin and vesico-ureteral reflux: a genetic study
topic Brief Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9952937/
https://www.ncbi.nlm.nih.gov/pubmed/36831047
http://dx.doi.org/10.3390/biomedicines11020509
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