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.
Authors
- Anna Di Sessa
- Mariantonia Braile (ORCID: https://orcid.org/0000-0002-3067-217X)
- Stefano Guarino (ORCID: https://orcid.org/0000-0001-6787-6320)
- Francesca Maisto
- Emanuele Miraglia del Giudice (ORCID: https://orcid.org/0000-0002-1492-076X)
- Pierluigi Marzuillo (ORCID: https://orcid.org/0000-0003-4682-0170)
- Pietro Gizzone (ORCID: https://orcid.org/0000-0002-3910-7580)
- Grazia Cirillo (ORCID: https://orcid.org/0000-0002-7823-972X)
- Pier Luigi Palma
- Paola Tirelli (ORCID: https://orcid.org/0009-0008-3882-0940)
Institutions
- University of Campania "Luigi Vanvitelli" (IT)
- University of Campania "Luigi Vanvitelli" (IT)
Publication Details
- 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
- Type
- article
- Field-Weighted Citation Impact
- 0.00