Kidney injury risk in congenital solitary functioning kidney: the role of nephron mass assessed by serum uromodulin and the rs4293393 T > C polymorphism

Over a mean follow-up of 21.1years(range:18-33), 15 patients (26.8%) developed KI. Genotypes were TT (62.5%) and TC (37.5%). Higher sUMOD levels in early adulthood were linked to kidney length(KL) > 2SDS in early-life and absence of the C allele. Lower sUMOD levels were associated with KI and its components. Kaplan-Meier analysis showed 100% KI-free survival at 33years in patients with early KL > 2SDS. Survival dropped to 62.4% in those without early KL > 2SDS and wild-type genotype, and to 0% by 26years in C allele carriers (p = 0.001). The hazard ratio for KI in C allele carriers was 5.1(95%confidence interval:1.6-16.2;p = 0.006). Therefore, early-life kidney ultrasound, combined with rs4293393 genotyping might improve risk stratification for KI in patients with CSFK.

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Journal
BMC Research Notes
Published
2025-12-13
DOI
https://doi.org/10.1186/s13104-025-07603-7
Primary Topic
Pediatric Urology and Nephrology Studies
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article
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article

Kidney injury risk in congenital solitary functioning kidney: the role of nephron mass assessed by serum uromodulin and the rs4293393 T > C polymorphism

Anna Di Sessa, Mariantonia Braile, Stefano Guarino, Francesca Maisto et al.
BMC Research Notes
Pediatric Urology and Nephrology Studies
article

Kidney injury risk in congenital solitary functioning kidney: the role of nephron mass assessed by serum uromodulin and the rs4293393 T > C polymorphism

Anna Di Sessa, Mariantonia Braile, Stefano Guarino, Francesca Maisto, Emanuele Miraglia del Giudice, Pierluigi Marzuillo, Pietro Gizzone, Grazia Cirillo, Pier Luigi Palma, Paola Tirelli
article en

Abstract

Over a mean follow-up of 21.1years(range:18-33), 15 patients (26.8%) developed KI. Genotypes were TT (62.5%) and TC (37.5%). Higher sUMOD levels in early adulthood were linked to kidney length(KL) > 2SDS in early-life and absence of the C allele. Lower sUMOD levels were associated with KI and its components. Kaplan-Meier analysis showed 100% KI-free survival at 33years in patients with early KL > 2SDS. Survival dropped to 62.4% in those without early KL > 2SDS and wild-type genotype, and to 0% by 26years in C allele carriers (p = 0.001). The hazard ratio for KI in C allele carriers was 5.1(95%confidence interval:1.6-16.2;p = 0.006). Therefore, early-life kidney ultrasound, combined with rs4293393 genotyping might improve risk stratification for KI in patients with CSFK.

BMC Research NotesVol. 19(1)
University of Campania "Luigi Vanvitelli" (IT), University of Campania "Luigi Vanvitelli" (IT)
Openalex Percentile: Top 50%
Pediatric Urology and Nephrology Studies
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