Prevalence and clinical profile of renal agenesis: Case series and retrospective study from 2019 to 2023

Abstract

Background and objective. Renal agenesis is a rare condition with complex causes, often involving genetic and environmental factors, though the exact triggers remain elusive. Studies have suggested an increased prevalence of renal agenesis. This study aims to evaluate the prevalence of renal agenesis and types of associated anomalies in newborns. Materials and methods. We performed a retrospective analysis of medical records of the newborns diagnosed with renal agenesis at the regional Level III unit between 2019 and 2023. All infants admitted to our maternity hospital during the study period were included. Stillbirths and fetal deaths were excluded. Neonatal, maternal, and paternal information was extracted from the neonatal medical charts. Statistical analysis was performed using IBM SPSS Statistics 23. Results. Within a cohort of 15,091 live births registered during the study period (2019-2023), 9 cases of renal agenesis were identified, corresponding to a prevalence of 1:1,677 live births. Four cases (44%) were prenatally diagnosed; 8 patients had unilateral agenesis, left-sided in 55.5% of cases. The mean gestational age at birth was 37.4 ± 4.2 weeks (28-41 weeks), while the mean neonatal weight at birth was 2,952.2 ± 1,076.2 g (range 960-4,110 g). Multiple significant malformations were found in three of the nine patients with renal agenesis. Three patients died during the neonatal period, two within the first 24 hours of life, and one at 13 days postpartum. Conclusions. Our retrospective study on renal agenesis revealed an increased prevalence of this congenital defect and an increased incidence of associated congenital abnormalities. Renal agenesis, bilateral or in association with other severe congenital defects, is associated with an increased rate of death.