Criteria for HNF1B analysis in patients with congenital abnormalities of kidney and urinary tract

BackgroundCongenital anomalies of kidneys and urinary tract (CAKUT) are the most predominant developmental disorders comprising ∼20–30% of all anomalies identified in the prenatal period. Mutations in hepatocyte nuclear factor 1-beta (HNF-1β) involved in the development of kidneys, liver, pancreas and urogenital tract are currently the most frequent monogenetic cause of CAKUT found in 10–30% of patients depending on screening policy and study design. We aimed to validate criteria for analysis of HNF1B in a prospective cohort of paediatric and adult CAKUT patients.