Congenital anomalies of the kidney and urinary tract (CAKUT) are a spectrum of renal disorders that commonly cause end-stage renal disease in children, but their genetic basis is largely unknown. In this Review, Nine Knoers et al. discuss the difficulties in identifying the genetic basis of CAKUT, the approaches used to detect genetic variants that confer risk of these anomalies, and the complex interplay between environmental factors, epigenetics, and genetic variants in contributing to the development of these syndromes.
- Nayia Nicolaou
- Kirsten Y. Renkema
- Nine V. A. M. Knoers
