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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

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

PURPOSE: 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. MATERIALS AND METHODS: 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. RESULTS: 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 average reduction of 28.3% of the cystometric capacity in comparison to expected capacity for age was found (p <0.001). Urodynamic abnormalities were significantly associated with the presence of voiding symptoms (p = 0.003) and bladder diverticula (p = 0.001). CONCLUSIONS: Children with the Williams-Beuren syndrome are at high risk for presenting with voiding dysfunction and structural abnormalities, and should undergo a minimum evaluation that includes voiding history and urinary tract sonography, while urodynamics, VCUG and additional studies should be performed in symptomatic patients or those whose initial evaluation shows significant abnormalities.[1]

References

  1. Voiding dysfunction and the Williams-Beuren syndrome: a clinical and urodynamic investigation. Sammour, Z.M., Gomes, C.M., Duarte, R.J., Trigo-Rocha, F.E., Srougi, M. J. Urol. (2006) [Pubmed]
 
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