ReviewPediatric nephrology (Berlin, Germany)2025
Translational strategies to uncover the etiology of congenital anomalies of the kidney and urinary tract.
Review in Pediatric nephrology (Berlin, Germany), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
11 citing papers in PubMed.
- The population frequency of predicted pathogenic genetic variants in commonly affected CAKUT genes in the general population.Pediatric nephrology (Berlin, Germany) · 2026Article
- Review
- Early diagnosis and intervention in congenital lower urinary tract obstruction: time to revise our approach?Pediatric nephrology (Berlin, Germany) · 2026Review
- Prenatal body fluid analysis in the evaluation of CAKUT.Pediatric nephrology (Berlin, Germany) · 2026Article
- Clinical and Molecular characteristics of kidney and urinary tract congenital anomalies in a cohort of Egyptian patients using whole-exome sequencing.Molecular biology reports · 2026Article
- Molecular characterization of Cdh12-SCON conditional knockout mice reveals unexpected splicing changes.Transgenic research · 2026Article
- Dose-Dependent and Non-Autonomous Signaling in CAKUT: A Lineage-Specific Framework from Conditional Knockout Studies.Biomolecules · 2026Review
- Dissecting Normal and Abnormal Human Kidney Development Using Multiomics.Journal of the American Society of Nephrology : JASN · 2026Review
- From Genes to Malformations: Molecular Mechanisms Driving the Pathogenesis of Congenital Anomalies of the Kidney and Urinary Tract.International journal of molecular sciences · 2025Review
- Risk factors for perinatal and neonatal mortality in cases with congenital anomalies of the kidney and urinary tract: a nested cohort study.Pediatric nephrology (Berlin, Germany) · 2025Article
- Kidney Transplantation in Congenital Abnormalities of Kidney and Urinary Tract (CAKUT).Biomedicines · 2025Review
Corrections and comments
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Authors and funding
12 authors.
Funding
Abstract
While up to 50% of children requiring kidney replacement therapy have congenital anomalies of the kidney and urinary tract (CAKUT), they represent only a fraction of the total patient population with CAKUT. The extreme variability in clinical outcome underlines the fundamental need to devise personalized clinical management strategies for individuals with CAKUT. Better understanding of the pathophysiology of abnormal kidney and urinary tract development provides a framework for precise diagnoses and prognostication of patients, the identification of biomarkers and disease modifiers, and, thus, the development of personalized strategies for treatment. In this review, we provide a state-of-the-art overview of the currently known genetic causes, including rare variants in kidney and urinary tract development genes, genomic disorders, and common variants that have been attributed to CAKUT. Furthermore, we discuss the impact of environmental factors and their interactions with developmental genes in kidney and urinary tract malformations. Finally, we present multi-angle translational modalities to validate candidate genes and environmental factors and shed light on future strategies to better understand the molecular underpinnings of CAKUT.
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