ACE-related renal tubular dysgenesis (RTD-ACE) in a neonate surviving beyond the early neonatal period

This is the authors' abstract. We don't add key points for this paper.

Renal tubular dysgenesis (RTD) is a rare autosomal recessive disorder of renal development caused by disruption of the foetal renin–angiotensin system, most commonly due to pathogenic variants in the angiotensin-converting enzyme ( ACE ) gene. The condition is classically associated with antenatal oligohydramnios or anhydramnios, refractory neonatal hypotension, and anuric kidney failure, with extremely high perinatal mortality. We report a preterm neonate with genetically confirmed RTD- ACE who survived beyond the neonatal period following early initiation of peritoneal dialysis and targeted supportive management. Early genetic diagnosis clarified the underlying pathophysiology and supported sustained intensive care despite the severity of presentation. This case illustrates the evolving clinical spectrum of RTD, particularly the postnatal evolution of urine output, and demonstrates the importance of this trajectory in counselling families and guiding decisions regarding the appropriateness and potential benefit of offering neonatal dialysis.