title: Renal tubular dysgenesis: a report of two cases.
abstract: Renal tubular dysgenesis, a congenital disorder of renal tubular development, was diagnosed in two newborns with oligohydramnios and Potter phenotype. Renal tubular dysgenesis (RTD) is a recently recognized congenital disorder of renal tubular development associated with oligohydramnios, Potter phenotype, and neonatal respiratory and renal failure. We report two newborn siblings with typical clinical and anatomic features of RTD. The diagnosis was proven by autopsy in one child. The pediatrician should consider the diagnosis of RTD in a child with congenital anuria and structurally normal kidneys on ultrasound, especially if a maternal history of late trimester oligohydramnios is present.
authors.affiliation: University Children's Hospital, Cologne, Germany.
authors.forename: U
authors.initials: U
authors.lastname: Querfeld
authors.forename: M
authors.initials: M
authors.lastname: Ortmann
authors.forename: A
authors.initials: A
authors.lastname: Vierzig
authors.forename: B
authors.initials: B
authors.lastname: Roth
mesh_terms: D001002:Anuria / Q000151:congenital*; D000013:Congenital Abnormalities / Q000235:genetics / Q000473:pathology; D003241:Consanguinity; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007684:Kidney Tubules / Q000002:abnormalities*; D016104:Oligohydramnios / Q000150:complications