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Objective <p>We hypothesized that serum uromodulin levels (sUMOD) and the uromodulin rs4293393 T &gt; 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 &lt; 90&#xa0;ml/min/1.73m2 and/or hypertension and/or proteinuria.</p> Results <p>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) &gt; 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 &gt; 2SDS. Survival dropped to 62.4% in those without early KL &gt; 2SDS and wild-type genotype, and to 0% by 26years in C allele carriers (<i>p</i> = 0.001). The hazard ratio for KI in C allele carriers was 5.1(95%confidence interval:1.6–16.2;<i>p</i> = 0.006). Therefore, early-life kidney ultrasound, combined with rs4293393 genotyping might improve risk stratification for KI in patients with CSFK.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年12月13日

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

摘要

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 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.