ReviewNature reviews. Nephrology2023
The genetics and pathogenesis of CAKUT.
Review in Nature reviews. Nephrology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers.
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Who cites it
53 citing papers in PubMed, 77 citations in OpenAlex.
- Update on APOL1 and chronic kidney diseases in children.Pediatric nephrology (Berlin, Germany) · 2026Review
- Personalized Medicine in Pediatric Urology: From Diagnosis to Individualized Risk Assessment.Medical sciences (Basel, Switzerland) · 2026Review
- How we do it: functional magnetic resonance urography in congenital anomalies of the kidney and urinary tract.Pediatric radiology · 2026Review
- IgE-mediated food allergy and upper urinary tract disorders in children: A matched study.Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2026Article
- Article
- CAKUT calculator: a clinical risk prediction tool for in-hospital mortality in neonates with congenital anomalies of the kidney and urinary tract admitted to level IV NICUs.Journal of perinatology : official journal of the California Perinatal Association · 2026Article
- Review
- Mesenchymal WNT signaling coordinates epithelial and mesenchymal differentiation in the developing murine ureter.Cell communication and signaling : CCS · 2026Article
- Pediatric magnetic resonance urography from patient preparation to post-processing: basics and controversies.Pediatric radiology · 2026Review
- Prenatal body fluid analysis in the evaluation of CAKUT.Pediatric nephrology (Berlin, Germany) · 2026Article
- Whole Exome Sequencing Reveals Promising Genes Associated with Congenital Renal Parenchymal Anomalies in Greek Children.Children (Basel, Switzerland) · 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
- Multi-organ single-cell analysis of preferential expression of CAKUT genes.BMC nephrology · 2026Article
- Genetic diagnosis in fetal hydronephrosis: assessment using chromosomal microarray analysis and whole-genome sequencing.Human genomics · 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
- Genetics of CAKUT.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026Article
- Efficacy of hc-tNGS for pathogen identification for pediatric cUTIs: a real-world observational study.Frontiers in cellular and infection microbiology · 2026Observational
- Morphometric analysis of retroperitoneal organs in individuals with unilateral congenital renal agenesis and renal hypoplasia.Pakistan journal of medical sciences · 2026Article
- From mutation to symptoms: a multi-center study on HNF1B-related nephropathy in Chinese children.BMC nephrology · 2025Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital anomalies of the kidney and urinary tract (CAKUT) comprise a large variety of malformations that arise from defective kidney or urinary tract development and frequently lead to kidney failure. The clinical spectrum ranges from severe malformations, such as renal agenesis, to potentially milder manifestations, such as vesicoureteral reflux. Almost 50% of cases of chronic kidney disease that manifest within the first three decades of life are caused by CAKUT. Evidence suggests that a large number of CAKUT are genetic in origin. To date, mutations in ~54 genes have been identified as monogenic causes of CAKUT, contributing to 12-20% of the aetiology of the disease. Pathogenic copy number variants have also been shown to cause CAKUT and can be detected in 4-11% of patients. Furthermore, environmental and epigenetic factors can increase the risk of CAKUT. The discovery of novel CAKUT-causing genes is challenging owing to variable expressivity, incomplete penetrance and variable genotype-phenotype correlation. However, such a discovery could ultimately lead to improvements in the accurate molecular genetic diagnosis, assessment of prognosis and multidisciplinary clinical management of patients with CAKUT, potentially including personalized therapeutic approaches.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.