Voiding dysfunction and the Williams-Beuren syndrome: a clinical and urodynamic investigation

The Journal of Urology
Zein M SammourMiguel Srougi

Abstract

WBS is an autosomal dominant disorder that includes features such as developmental delay, cardiovascular anomalies, mental retardation and characteristic facial appearance. We systematically investigated the prevalence and spectrum of voiding dysfunction in this population. We prospectively evaluated 16 boys and 12 girls with WBS, with a mean age of 9.7 years (range 3 to 19). Urological evaluation included history of urinary symptoms and impact on quality of life, voiding diary, urodynamics and radiological evaluation with urinary tract sonography, voiding cystourethrography and renal scintigraphy. A total of 22 patients (78.6%) were symptomatic, including 15 (53.6%) with a significant negative impact on the quality of life. Increased urinary frequency was the most common complaint, present in 17 patients (60.7%), followed by enuresis (50%) and urge incontinence (42.8%). A total of 14 patients (50%) had urinary tract abnormalities, with bladder diverticula as the predominant anomaly (10 of 23 patients, or 43.5%). Urodynamics revealed detrusor overactivity in 17 patients (60.7%), detrusor-sphincter dyssynergia with detrusor overactivity in 4 (14.3%) and detrusor-sphincter dyssynergia without detrusor overactivity in 2 (7.1%). An...Continue Reading

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Citations

Oct 2, 2013·Nature Reviews. Urology·Alexander von Gontard
Apr 16, 2010·The New England Journal of Medicine·Xavier GameClare J Fowler
Apr 16, 2013·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Adrian S WoolfWilliam G Newman
Mar 4, 2014·Journal of Pediatric Urology·Zein M SammourMiguel Srougi
Jun 9, 2009·The Kaohsiung Journal of Medical Sciences·Wei-Der LeeMao-Hsiung Huang
Oct 14, 2010·Research in Developmental Disabilities·Dagmara AnnazAnnette Karmiloff-Smith
Dec 18, 2007·Journal of Pediatric Surgery·Navroop S JohalImran Mushtaq
Sep 16, 2015·Neurourology and Urodynamics·Alexander von GontardMonika Equit
Apr 29, 2010·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Colleen A Morris
Jun 13, 2014·American Journal of Medical Genetics. Part a·Beth A KozelBarbara R Pober
Jan 15, 2014·Ophthalmic Genetics·Melissa Machado VianaMarcos José Burle de Aguiar
Aug 29, 2009·Pediatric Annals·Jessica L WaxlerBarbara R Pober
May 19, 2012·The Journal of Urology·Zein M SammourMiguel Srougi
Jul 20, 2007·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Barbara R Pober, Colleen A Morris
Jan 23, 2020·Pediatrics·Colleen A MorrisUNKNOWN COUNCIL ON GENETICS

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