{"title":"Genetics of CAKUT.","authors":"Alina C Hilger, Rik Westland, Julia Hoefele","doi":"10.1515/medgen-2025-2053","DOIUrl":null,"url":null,"abstract":"<p><p>Congenital anomalies of the kidney and urinary tract (CAKUT) represent a heterogeneous group of developmental disorders and are the leading cause of pediatric chronic kidney disease worldwide. The phenotypic spectrum is broad, encompassing kidney agenesis, hypodysplasia, multicystic dysplastic kidneys, vesicoureteral reflux, obstructive uropathies, and other malformations affecting the kidneys, ureters, and urethra. Advances in genetics have begun to unravel the molecular pathways underlying these diverse phenotypes, yet the complexity of CAKUT reflects contributions from both monogenic variants and multifactorial causes. This review provides an overview of the current understanding of the genetic causes of CAKUT, beginning with fundamental principles of kidney and urinary tract development, and then focusing on major discoveries in the past ten years. We aim to summarize key genetic findings, with an emphasis on genotype-phenotype correlations and developmental pathways, highlight emerging mechanisms, and discuss their implications for diagnosis, counseling, and clinical management.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"38 1","pages":"3-10"},"PeriodicalIF":1.4000,"publicationDate":"2026-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12910339/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Medizinische Genetik","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1515/medgen-2025-2053","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2026/2/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Congenital anomalies of the kidney and urinary tract (CAKUT) represent a heterogeneous group of developmental disorders and are the leading cause of pediatric chronic kidney disease worldwide. The phenotypic spectrum is broad, encompassing kidney agenesis, hypodysplasia, multicystic dysplastic kidneys, vesicoureteral reflux, obstructive uropathies, and other malformations affecting the kidneys, ureters, and urethra. Advances in genetics have begun to unravel the molecular pathways underlying these diverse phenotypes, yet the complexity of CAKUT reflects contributions from both monogenic variants and multifactorial causes. This review provides an overview of the current understanding of the genetic causes of CAKUT, beginning with fundamental principles of kidney and urinary tract development, and then focusing on major discoveries in the past ten years. We aim to summarize key genetic findings, with an emphasis on genotype-phenotype correlations and developmental pathways, highlight emerging mechanisms, and discuss their implications for diagnosis, counseling, and clinical management.
期刊介绍：
medizinischegenetik is a scientific journal that is owned and published by the German Society of Human Genetics e.V. since 1989. The journal was founded by Prof. Jan Murken, München. Self-published until 2006, from 2007-2019 published at Springer Verlag and since 2020 at De Gruyter.
medizinischegenetik serves education and training among colleagues, the interdisciplinary exchange of knowledge in all areas of human genetics in clinics, practice, research and teaching. Each issue of the quarterly journal deals with a focus that provides a comprehensive overview of current developments in specific clinical pictures, technical developments and therapeutic approaches. All reviews are written in English language. The journal thus creates a platform for the international exchange of knowledge and increased awareness of German research activities in the scientific community.
In addition, medizinischegenetik contains information on activities in its own subject in the German-language section. This includes conference reports, association announcements, personnel matters, statements and guidelines. With health policy questions, historical retrospectives and comments on current developments, the profession takes a stand on human genetic issues in Germany, Austria and Switzerland.
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