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Título

LONGITUDINAL IMPROVEMENT OF LOWER URINARY TRACT SYMPTOMS IN WILLIAMS-BEUREN SYNDROME

Resumo

Introduction
Williams-Beuren syndrome (WBS) is a chromosomal genomic disorder caused by a hemizygous contiguous gene deletion at region 7q11.23. Patients with WBS usually show a group of conditions including congenital cardiac defects, peculiar facies, growth deficiency, neurodevelopmental disturbances and structural abnormalities of the urinary tract. Lower urinary tract symptoms (LUTS) are common in WBS and it has been hypothesized that they improve with aging.
Objective
The aim of this study was to assess the long-term outcomes of LUTS in a group of WBS patients followed by up to 10 years.
Methods
Data were obtained from a prospective cohort database of 90 consecutive patients with WBS. We present longitudinal data on the LUTS of 31 subjects (11 girls and 20 boys) who completed baseline and at least 5 years of follow-up. A structured questionnaire of LUTS, a 3-day frequency-volume chart and a quality of life (QoL) evaluation were obtained. Standard urotherapy and pharmacological treatment were offered to symptomatic patients.
Results
Based on the initial workup, 27 (87.5%) patients were considered symptomatic and 25 (92.5%) children received medical therapy (19 with oxybutynin, 1 with doxazosin and 5 with combination) in association with urotherapy. Mean duration of follow-up was 9.5 ± 3.1 years (range 5 to 14 years). Mean duration of pharmachological treatment was 7.0 ± 3.9 years (range 1 to 14). Nineteen (61.2%) of 31 patients were on pharmacological treatment at 5 years follow-up and 9 (52.9%) of the 17 patients completing 10 years of follow-up remained on pharmacological treatment. A marked improvement of LUTS and QoL were observed over time.
Conclusions
Our study provides a longitudinal evaluation of LUTS in children with WBS showing significant improvement of lower urinary tract symptoms and reduction of medication use over time. The mechanisms of improvement are not completely understood.

Palavras Chave ( separado por ; )

Williams syndrome; LUTS; nocturnal enuresis; urinary incontinence; children