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

ABSTRACT:

Objective

We hypothesized that serum uromodulin levels (sUMOD) and the uromodulin rs4293393 T > C polymorphism could aid in risk stratification for kidney injury (KI) in patients with a congenital solitary functioning kidney (CSFK), serving as markers of nephron mass. We tested this hypothesis in a cohort study of 56 CSFK patients followed from birth to adulthood. The rs4293393 polymorphism was genotyped using the TaqMan assay. Serum uromodulin was measured at last follow-up using ELISA. KI was defined by estimated glomerular filtration rate < 90 ml/min/1.73m2 and/or hypertension and/or proteinuria.

Results

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 l

SUBMITTER: Guarino S 

PROVIDER: S-EPMC12817487 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature