title: Posterior urethral valves in patients with Down syndrome.
abstract: Renal and urological anomalies in Down syndrome (DS) have received little attention compared with the nephrourological findings described in other chromosomal abnormalities. Renal hypoplasia, hydroureteronephrosis, ureterovesical and ureteropelvic junction obstruction, and vesicoureteral reflux, but not posterior urethral valves, have been associated with DS. We report the occurrence of posterior urethral valves in three male infants with DS at a single institution. All had multiple urological procedures for correction or palliation of obstruction. Children with DS may have an increased risk for developing posterior urethral valves and obstructive uropathy. Furthermore, they may also develop chronic renal failure secondary to posterior urethral valves. Therefore, we suggests that infants with DS be screened with ultrasonography for renal and urological abnormalities early in life and, if abnormal, a contrast voiding cystourethrogram be performed to rule out posterior urethral valves or other bladder or urethral abnormalities. A review of the renal and urological anomalies in DS reported in the literature since 1960 is presented.
authors.affiliation: Department of Pediatrics, State University of New York at Stony Brook 11794-8111, USA.
authors.forename: J C
authors.initials: JC
authors.lastname: Kupferman
authors.forename: C L
authors.initials: CL
authors.lastname: Stewart
authors.forename: F J
authors.initials: FJ
authors.lastname: Kaskel
authors.forename: R N
authors.initials: RN
authors.lastname: Fine
mesh_terms: D000328:Adult; D002675:Child, Preschool; D004314:Down Syndrome / Q000150:complications* / Q000000981:diagnostic imaging; D006801:Humans; D006869:Hydronephrosis / Q000150:complications / Q000151:congenital / Q000000981:diagnostic imaging; D008297:Male; D014463:Ultrasonography; D014521:Urethra / Q000002:abnormalities* / Q000000981:diagnostic imaging; D014524:Urethral Obstruction / Q000150:complications* / Q000151:congenital / Q000000981:diagnostic imaging; D014718:Vesico-Ureteral Reflux / Q000150:complications / Q000000981:diagnostic imaging