ReviewInternational journal of molecular sciences2017
Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play.
Review in International journal of molecular sciences, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 69 papers.
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Who cites it
69 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
- A review of congenital anomalies of the kidney and urinary tract (CAKUT) in Africa.Annals of medicine and surgery (2012) · 2026Review
- Dose-Dependent and Non-Autonomous Signaling in CAKUT: A Lineage-Specific Framework from Conditional Knockout Studies.Biomolecules · 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
- Genotype-phenotype correlations and functional characterization of novelRenal failure · 2025Article
- Multicystic dysplastic kidneys (MCDK) during prenatal life and postnatal outcome.Archives of gynecology and obstetrics · 2025Article
- 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
- Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).European journal of human genetics : EJHG · 2025Article
- Missense mutation (Ser654Leu) in theBiomedical reports · 2025Article
- Malnutrition management in children with chronic kidney disease.Pediatric nephrology (Berlin, Germany) · 2025Review
- Wnt/β-Catenin Signaling and Congenital Abnormalities of Kidney and Urinary Tract.Kidney diseases (Basel, Switzerland) · 2024Review
- Frameshift Mutation in PAX2 Related to Focal Segmental Glomerular Sclerosis: A Case Report and Literature Review.Molecular genetics & genomic medicine · 2024Review
- Expression of Autophagy Markers LC3B, LAMP2A, and GRP78 in the Human Kidney during Embryonic, Early Fetal, and Postnatal Development and Their Significance in Diabetic Kidney Disease.International journal of molecular sciences · 2024Article
- Genetic and Clinical Factors Influencing Congenital Anomalies of the Kidney and Urinary Tract in Children: Insights from Prenatal and Postnatal Assessments.Biomedicines · 2024Article
- Pathogenic PHIP Variants are Variably Associated With CAKUT.Kidney international reports · 2024Article
- Brain and spine malformations and neurodevelopmental disorders in a cohort of children with CAKUT.Pediatric nephrology (Berlin, Germany) · 2024Article
- Implications of Genetic Factors Underlying Mouse Hydronephrosis: Cautionary Considerations on Phenotypic Interpretation in Genetically Engineered Mice.International journal of molecular sciences · 2024Article
- Ocular manifestations of congenital anomalies of the kidney and urinary tract (CAKUT).Pediatric nephrology (Berlin, Germany) · 2024Review
- Risk factors of congenital anomalies of the kidney and urinary tract (CAKUT): Exposure to mobile phones during pregnancy.Turkish journal of medical sciences · 2024Article
- Congenital anomalies of the kidney and urinary tract.Frontiers in medicine · 2024Review
9 more citing papers are in PubMed but not listed here.
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital anomalies of the kidney and urinary tract (CAKUT) are the most frequent form of malformation at birth and represent the cause of 40-50% of pediatric and 7% of adult end-stage renal disease worldwide. The pathogenesis of CAKUT is based on the disturbance of normal nephrogenesis, secondary to environmental and genetic causes. Often CAKUT is the first clinical manifestation of a complex systemic disease, so an early molecular diagnosis can help the physician identify other subtle clinical manifestations, significantly affecting the management and prognosis of patients. The number of sporadic CAKUT cases explained by highly penetrant mutations in a single gene may have been overestimated over the years and a genetic diagnosis is missed in most cases, hence the importance of identifying new genetic approaches which can help unraveling the vast majority of unexplained CAKUT cases. The aim of our review is to clarify the current state of play and the future perspectives of the genetic bases of CAKUT.
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