Inherited renal tubular dysgenesis with novel homozygous mutation in angiotensin-1-converting enzyme gene: A case report

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Renal tubular dysgenesis (RTD) is a serious developmental disorder of kidneys, characterized by typical clinical-pathological features, which include an early onset of anuria with oligohydramnios, the Potter sequence and refractory hypotension resulting from poorly differentiated proximal tubules. The prognosis is poor and most of the affected fetuses die in utero or in neonatal period. The disease may be acquired or inherited. Here we report a case of a newborn with RTD who was transferred to our intensive care unit (ICU) after preterm delivery of young healthy primipara. The newborn died after 11 hours despite the appropriate intensive care. Genetic analyses indicated after evaluation of renal histology confirmed the diagnosis of RTD. A novel homozygous R259C mutation in the gene coding angiotensin-1-converting enzyme (ACE) was found. Consequent mutation analysis found the same heterozygous mutations in both parents, who are asymptomatic. The identification of causal mutation is an important finding; allowing not only estimation of theoretical risk of recurrence, but also allowing future parents and their family members to benefit from genetic testing and early prenatal diagnosis.