title: Oligohydramnios associated with sonographically normal kidneys.
abstract: We report a male newborn presenting with sonographically normal kidneys, oligohydramnios during late pregnancy, and persisting anuric renal failure. Despite intensive treatment, the patient suffered from severe hypotension and died at the age of 4 weeks. At autopsy, kidneys were found to be normal; on histology, deranged renal structures, in particular proximal tubuli and vessels, were noted, leading to the diagnosis of renal tubular dysgenesis (RTD). The diagnosis was confirmed by 2 heterozygous nonsense mutations of the ACE gene. Because the recurrence rate of RTD is 25% for the autosomal recessive trait, knowledge and genetic diagnosis of the disease is important for the parents.
authors.affiliation: Department of Pediatrics, University of Jena, Germany.
authors.forename: Ulrike
authors.initials: U
authors.lastname: John
authors.forename: Kerstin
authors.initials: K
authors.lastname: Benz
authors.forename: Axel
authors.initials: A
authors.lastname: Hübler
authors.forename: Ludwig
authors.initials: L
authors.lastname: Patzer
authors.forename: Martin
authors.initials: M
authors.lastname: Zenker
authors.forename: Kerstin
authors.initials: K
authors.lastname: Amann
mesh_terms: D001002:Anuria / Q000209:etiology; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000000981:diagnostic imaging*; D007687:Kidney Tubules, Proximal / Q000002:abnormalities; D008297:Male; D016104:Oligohydramnios / Q000209:etiology*; D007703:Peptidyl-Dipeptidase A / Q000235:genetics; D011247:Pregnancy; D051437:Renal Insufficiency / Q000209:etiology; D014463:Ultrasonography; D014564:Urogenital Abnormalities / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics
chemical_list: D007703:Peptidyl-Dipeptidase A