The clinical spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) encompasses a common birth defect in humans that has significant impact on long-term patient survival. Overall, data indicate that approximately 20% of patients may have a genetic disorder that is usually not detected based on standard clinical evaluation, implicating many different mutational mechanisms and pathogenic pathways. In particular, 10% to 15% of CAKUT patients harbor an unsuspected genomic disorder that increases risk of neurocognitive impairment and whose early recognition can impact clinical care. The emergence of high-throughput genomic technologies is expected to provide insight into the common and rare genetic determinants of diseases and offer opportunities for early diagnosis with genetic testing.
Sanna-Cherchi, S., Westland, R., Ghiggeri, G. M., & Gharavi, A. G. (2018). Genetic basis of human congenital anomalies of the kidney and urinary tract. Journal of Clinical Investigation, 128(1), 4-15. https://doi.org/10.1172/JCI95300