Lecture Code : PN01-S3
Session Name : Pediatric Nephrology
Session Topic : Pediatric Nephrology
Date & Time, Place : June 11 (Thu) / 13:00-14:30 / Room 4 (203), 2F
Syndromic and Genetic CAKUT: Clinical Lessons from Case Experiences
Yo Han Ahn
Seoul National University College of Medicine, Republic of Korea
Congenital anomalies of the kidney and urinary tract (CAKUT) are a leading cause of chronic kidney disease in children, with a substantial proportion linked to underlying genetic factors. Recent advances in genomic technologies have expanded the spectrum of disease-associated genes, including monogenic variants and copy number variations. However, clinical recognition of genetic and syndromic CAKUT remains challenging due to phenotypic heterogeneity, variable expressivity, and the often subtle or evolving nature of extra-renal manifestations.
This lecture provides an overview of the genetic architecture of CAKUT, with emphasis on clinically relevant genes such as HNF1B, PAX2, and EYA1, as well as the contribution of genomic structural variants. Representative case experiences are used to illustrate key clinical insights, particularly the diagnostic significance of extra-renal features including endocrine abnormalities, ocular findings, hearing impairment, and neurodevelopmental delay. The variability of genotype–phenotype correlations and the overlap between isolated and syndromic presentations are discussed, highlighting the importance of a systematic and genetics-informed approach to evaluation. Practical considerations regarding the appropriate use of genetic testing, interpretation of results, and implications for family screening are also addressed.
Establishing a molecular diagnosis has important clinical implications, including risk stratification, surveillance for associated conditions, and optimization of long-term management. These clinical lessons underscore the vital role of precision medicine in the care of patients with CAKUT.
Keywords: Congenital anomalies of the kidney and urinary tract , Genetic cause, Syndrome, Chronic kidney disease