Late Preterm Infant With Postnatal Diagnosis of Renal Tubular Dysgenesis.

ABSTRACT: A male infant born at 34 weeks' gestation presented with acute cardiorespiratory decompensation soon after birth followed by renal failure. Initial clinical course was complicated by ventilator requirement, bilateral pneumothoraces, and hypotension managed with multiple inotropes. Persistent renal failure with oliguria and renal ultrasound showing noncystic medical renal disease prompted further investigation. Whole-exome sequencing showed 2 pathologic mutations in the angiotensin-converting enzyme (ACE) gene, suggesting a diagnosis of renal tubular dysgenesis (RTD). Renal tubular dysgenesis is usually a fatal condition affecting the renin-angiotensin system with possible autosomal recessive inheritance. Acquired cases have been described in the setting of in utero exposure to medications

SUBMITTER: Gaffar S 

PROVIDER: S-EPMC9290087 | biostudies-literature | 2022 Jan-Dec

REPOSITORIES: biostudies-literature