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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| Format: | Article |
| Language: | English |
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MDPI AG
2023-02-01
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| Series: | Biomedicines |
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| Online Access: | https://www.mdpi.com/2227-9059/11/2/509 |
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| author | Silvio Maringhini Rosa Cusumano Ciro Corrado Giuseppe Puccio Giovanni Pavone Maria Michela D’Alessandro Maria Chiara Sapia Olivier Devuyst Serena Abbate |
| author_facet | Silvio Maringhini Rosa Cusumano Ciro Corrado Giuseppe Puccio Giovanni Pavone Maria Michela D’Alessandro Maria Chiara Sapia Olivier Devuyst Serena Abbate |
| author_sort | Silvio Maringhini |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-11T09:07:17Z |
| format | Article |
| id | doaj.art-bc65a9abf59c420eab4dc43f544018a6 |
| institution | Directory Open Access Journal |
| issn | 2227-9059 |
| language | English |
| last_indexed | 2024-03-11T09:07:17Z |
| publishDate | 2023-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Biomedicines |
| spelling | doaj.art-bc65a9abf59c420eab4dc43f544018a62023-11-16T19:19:18ZengMDPI AGBiomedicines2227-90592023-02-0111250910.3390/biomedicines11020509Uromodulin and Vesico-Ureteral Reflux: A Genetic StudySilvio Maringhini0Rosa Cusumano1Ciro Corrado2Giuseppe Puccio3Giovanni Pavone4Maria Michela D’Alessandro5Maria Chiara Sapia6Olivier Devuyst7Serena Abbate8Department of Pediatrics, Istituto Mediterraneo per i Trapianti e Terapie ad Alta Specializzazione ISMETT, 90127 Palermo, ItalyPediatric Nephrology Unit, Azienda di Rilievo Nazionale ed Alta Specializzazione (ARNAS) Civico, Di Cristina, Benfratelli, 90129 Palermo, ItalyPediatric Nephrology Unit, Azienda di Rilievo Nazionale ed Alta Specializzazione (ARNAS) Civico, Di Cristina, Benfratelli, 90129 Palermo, ItalyPediatric Nephrology Unit, Azienda di Rilievo Nazionale ed Alta Specializzazione (ARNAS) Civico, Di Cristina, Benfratelli, 90129 Palermo, ItalyPediatric Nephrology Unit, Azienda di Rilievo Nazionale ed Alta Specializzazione (ARNAS) Civico, Di Cristina, Benfratelli, 90129 Palermo, ItalyPediatric Nephrology Unit, Azienda di Rilievo Nazionale ed Alta Specializzazione (ARNAS) Civico, Di Cristina, Benfratelli, 90129 Palermo, ItalyPediatric Nephrology Unit, Azienda di Rilievo Nazionale ed Alta Specializzazione (ARNAS) Civico, Di Cristina, Benfratelli, 90129 Palermo, ItalyDepartment of Physiology, University of Zurich, CH-8057 Zurich, SwitzerlandDepartment of Pediatrics, Istituto Mediterraneo per i Trapianti e Terapie ad Alta Specializzazione ISMETT, 90127 Palermo, ItalyVesicoureteral 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.https://www.mdpi.com/2227-9059/11/2/509uromodulin (UMOD)vesico-ureteral reflux (VUR)urinary tract infection (UTI) |
| spellingShingle | Silvio Maringhini Rosa Cusumano Ciro Corrado Giuseppe Puccio Giovanni Pavone Maria Michela D’Alessandro Maria Chiara Sapia Olivier Devuyst Serena Abbate Uromodulin and Vesico-Ureteral Reflux: A Genetic Study Biomedicines uromodulin (UMOD) vesico-ureteral reflux (VUR) urinary tract infection (UTI) |
| 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 | uromodulin (UMOD) vesico-ureteral reflux (VUR) urinary tract infection (UTI) |
| url | https://www.mdpi.com/2227-9059/11/2/509 |
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