Uromodulin and Vesico-Ureteral Reflux: A Genetic Study
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作者:
Maringhini, Silvio
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Ist Mediterraneo i Trapianti & Terapie Alta Specia, Dept Pediat, I-90127 Palermo, ItalyIst Mediterraneo i Trapianti & Terapie Alta Specia, Dept Pediat, I-90127 Palermo, Italy
Maringhini, Silvio
[1
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Cusumano, Rosa
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Azienda Rilievo Nazl Alta Specializzaz ARNAS Civ C, Pediat Nephrol Unit, I-90129 Palermo, ItalyIst Mediterraneo i Trapianti & Terapie Alta Specia, Dept Pediat, I-90127 Palermo, Italy
Cusumano, Rosa
[2
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Corrado, Ciro
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Azienda Rilievo Nazl Alta Specializzaz ARNAS Civ C, Pediat Nephrol Unit, I-90129 Palermo, ItalyIst Mediterraneo i Trapianti & Terapie Alta Specia, Dept Pediat, I-90127 Palermo, Italy
Corrado, Ciro
[2
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Puccio, Giuseppe
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Azienda Rilievo Nazl Alta Specializzaz ARNAS Civ C, Pediat Nephrol Unit, I-90129 Palermo, ItalyIst Mediterraneo i Trapianti & Terapie Alta Specia, Dept Pediat, I-90127 Palermo, Italy
Puccio, Giuseppe
[2
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Pavone, Giovanni
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Azienda Rilievo Nazl Alta Specializzaz ARNAS Civ C, Pediat Nephrol Unit, I-90129 Palermo, ItalyIst Mediterraneo i Trapianti & Terapie Alta Specia, Dept Pediat, I-90127 Palermo, Italy
Pavone, Giovanni
[2
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D'Alessandro, Maria Michela
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Azienda Rilievo Nazl Alta Specializzaz ARNAS Civ C, Pediat Nephrol Unit, I-90129 Palermo, ItalyIst Mediterraneo i Trapianti & Terapie Alta Specia, Dept Pediat, I-90127 Palermo, Italy
D'Alessandro, Maria Michela
[2
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Sapia, Maria Chiara
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Azienda Rilievo Nazl Alta Specializzaz ARNAS Civ C, Pediat Nephrol Unit, I-90129 Palermo, ItalyIst Mediterraneo i Trapianti & Terapie Alta Specia, Dept Pediat, I-90127 Palermo, Italy
Sapia, Maria Chiara
[2
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Devuyst, Olivier
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Univ Zurich, Dept Physiol, CH-8057 Zurich, SwitzerlandIst Mediterraneo i Trapianti & Terapie Alta Specia, Dept Pediat, I-90127 Palermo, Italy
Devuyst, Olivier
[3
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Abbate, Serena
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Ist Mediterraneo i Trapianti & Terapie Alta Specia, Dept Pediat, I-90127 Palermo, ItalyIst Mediterraneo i Trapianti & Terapie Alta Specia, Dept Pediat, I-90127 Palermo, Italy
Abbate, Serena
[1
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机构:
[1] Ist Mediterraneo i Trapianti & Terapie Alta Specia, Dept Pediat, I-90127 Palermo, Italy
[2] Azienda Rilievo Nazl Alta Specializzaz ARNAS Civ C, Pediat Nephrol Unit, I-90129 Palermo, Italy
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.