The neonate with adult-type autosomal dominant polycystic kidney disease.

Abstract

A premature infant with severe respiratory distress syndrome was found to have bilaterally enlarged kidneys and normal renal function. Renal ultrasonography confirmed renal enlargement but revealed no hydronephrosis or cysts. Family history was consistent with autosomal dominant polycystic kidney disease (ADPKD), and renal ultrasonography in the mother revealed bilateral multiple cysts of which she was previously unaware. The infant died of respiratory failure and septicemia, and autopsy revealed multiple microscopic renal cysts characteristic of early ADPKD. This case, along with 16 other affected newborns previously reported, illustrates the difficulty and importance of diagnosing ADPKD in the neonate. It is anticipated that awareness of this unusual cause of renal enlargement in the newborn will result in earlier diagnosis and appropriate genetic counselling.