Renal tubular dysgenesis: the first case reported in Japan

Renal tubular dysgenesis (RTD) is a fatal congenital disease characterized by a defect in the differentiation of the proximal and distal convoluted tubules. This disorder is clinically associated with oligohydramnios, intrauterine growth retardation, and acute renal failure, and the diagnosis is made only at autopsy. We report a very low birth-weight infant with RTD. The infant was delivered at 32 weeks of gestation by cesarian section, because of fetal distress, and weighed 631 g. She had no micturition after birth and developed acute renal failure on day 3 of life. Because ultrasound scan did not show any abnormalities of the kidneys, she was treated aggressively with various blood purification procedures, but she died of sepsis and disseminated intravascular coagulation (DIC) on day 13 after birth. Postmortem examination of the kidneys showed glomerular crowding and undifferentiated tubules. Positive staining of tubular epithelial cells for epithelial membrane antigen supported a diagnosis of RTD. When renal failure occurs in a neonate without any gross morphological abnormalities of the kidneys on ultrasound imaging, RTD should be considered. A review of the literature showed that this is the first case of RTD reported in Japan. Received: June 4, 2001 / Accepted: June 25, 2001