Renal Tubular Dysgenesis Present in a newborn with Meconium Ileus

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Abstract
The combination of renal tubular dysgenesis (RTD) and meconium ileus in a native Israeli is presented for the first time. The clinical diagnosis was oligohydramnios and abruptio placentae, respiratory failure, and anuria refractory to treatment. The autopsy revealed meconium ileus and meconium peritonitis. RTD was established by the detection of a monomorphous undifferentiated population of tubules, absence of proximal tubules, and dense epithelial membrane antigen immunoreactivity of all tubules. The lack of α1-antitrypsin- and lysozyme-immunoreactive tubules was first revealed in the kidney with RTD. These findings extend the possibilities of RTD detection.