Sav N M, Eroz R, Kalay Duran N, Kilicaslan O, Erisen Karaca S
Department of Pediatric Nephrology, Duzce University, Duzce, Turkey.
Department of Medical Genetics, Aksaray University, Aksaray, Turkey.
Balkan J Med Genet. 2025 Mar 6;27(2):41-47. doi: 10.2478/bjmg-2024-0013. eCollection 2024 Dec.
Vesicoureteral reflux (VUR) is an important factor in the etiology of recurrent urinary tract infections (UTIs). Permanent kidney damage may develop in children with high-grade VUR in the long term. This damage may progress with the development of scar tissue in some patients. The gene is an important resistance mechanism, especially against UTIs. R4 gene polymorphism is associated with recurrent UTIs and kidney scar development in the long term. This study aimed to examine the relationship between scar development and gene polymorphism in children with VUR. This cross-sectional study included 49 patients with recurrent UTIs and primary vesicoureteral reflux. Patients were divided into two groups (26 patients with the scar, and 23 patients without scar) according to the presence of scar tissue. gene polymorphisms of the patients were evaluated by Next Generation Sequencing. The gene polymorphism was significantly higher in the compound heterozygous group with scarring than in the group without scarring (p=0.03). Gene polymorphisms, c.958T>C, c.942A>G, c.776A>G, c.1076C>T, c.896A<G, c.1196C>T, c.1078C>T were presented more commonly in the group with scarring. Moreover, gene polymorphisms c.942A>G and c.776A>G were defined for the first time in this study among patients with scar tissue. The higher incidence of some gene polymorphisms in patients with scarring suggested that these variations might cause permanent kidney damage. In addition to genetic predisposition, environmental factors such as untreated UTIs might also contribute to scar formation.
膀胱输尿管反流（VUR）是复发性尿路感染（UTIs）病因中的一个重要因素。长期来看，患有高级别VUR的儿童可能会出现永久性肾损伤。在一些患者中，这种损伤可能会随着瘢痕组织的形成而进展。该基因是一种重要的抵抗机制，尤其是针对UTIs。R4基因多态性与复发性UTIs及长期肾瘢痕形成有关。本研究旨在探讨VUR患儿瘢痕形成与该基因多态性之间的关系。这项横断面研究纳入了49例复发性UTIs和原发性膀胱输尿管反流患者。根据瘢痕组织的有无将患者分为两组（26例有瘢痕患者和23例无瘢痕患者）。通过下一代测序评估患者的该基因多态性。有瘢痕的复合杂合子组的该基因多态性显著高于无瘢痕组（p = 0.03）。基因多态性c.958T>C、c.942A>G、c.776A>G、c.1076C>T、c.896A<G、c.1196C>T、c.1078C>T在有瘢痕组中更为常见。此外，本研究在有瘢痕组织的患者中首次发现了基因多态性c.942A>G和c.776A>G。有瘢痕患者中某些该基因多态性的较高发生率表明这些变异可能导致永久性肾损伤。除了遗传易感性外，未经治疗的UTIs等环境因素也可能导致瘢痕形成。
