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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.<\/jats:p>\n          <jats:p>\n            <jats:bold>Graphical abstract<\/jats:bold>\n          <\/jats:p>","DOI":"10.1007\/s00467-024-06479-2","type":"journal-article","created":{"date-parts":[[2024,10,7]],"date-time":"2024-10-07T15:03:04Z","timestamp":1728313384000},"page":"685-699","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Translational strategies to uncover the etiology of congenital anomalies of the kidney and urinary tract"],"prefix":"10.1007","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7871-7018","authenticated-orcid":false,"given":"Lisanne M.","family":"Vendrig","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4868-6844","authenticated-orcid":false,"given":"Mayke A. 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RW is a board member of the Working Group on CAKUT, urinary tract infection and bladder dysfunction of the European Society of Pediatric Nephrology (ESPN). RW, MFS, AMvE, and JM are members of the NL research consortium Kidnie, which is supported by the Dutch Kidney Foundation. All authors of this paper are members of the European Reference Network for Rare Kidney Diseases (ERKNet). All other authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}