RESUMEN
INTRODUCTION: Williams-Beuren syndrome (WBS) is a genetic condition caused by a microscopic deletion in the chromosome band 7q11.23. Individuals with WBS may present with congenital cardiovascular defects, neurodevelopmental disturbances and structural abnormalities of the urinary tract. Lower urinary tract symptoms (LUTS) seem to be frequent in this population, but studies on this topic are scarce and based on small case series. OBJECTIVE: To systematically evaluate the prevalence of lower urinary tract symptoms (LUTS) and the acquisition of bladder control in a large population with WBS. STUDY DESIGN: A cross-sectional study evaluating 87 consecutive patients with WBS; there were 41 girls and 46 boys. Genetic studies confirmed WBS in all patients. Subjects were clinically evaluated with: a history of LUTS obtained from the parents and child, a structured questionnaire of LUTS, a 3-day urinary frequency-volume chart, a quality of life question regarding LUTS, and physical examination. A history regarding the acquisition of bladder control was directly evaluated from the parents. RESULTS: Mean age of patients was 9.0 ± 4.2 years, ranging from 3 to 19 years. Based on the symptoms questionnaire and the frequency-volume chart, 70 patients (80.5%) were symptomatic. The most common symptom was urgency, affecting 61 (70.1%) patients, followed by increased urinary frequency in 60 (68.9%) patients, and urge-incontinence in 53 (60.9%), as shown in Summary Fig. More than half of the children reported nocturnal enuresis, including 61% of the girls and 52% of the boys. Twenty-three patients (25.6%) had a history of urinary tract infections. The mean age for acquisition of dryness during the day was 4.4 ± 1.9 years. Parents of 61 patients (70.1%) acknowledged that LUTS had a significant impact on the quality of life of their children. DISCUSSION: A high prevalence of LUTS was confirmed with a significant negative impact on quality of life in a large population of children and adolescents with WBS. It was shown for the first time that the achievement of daytime bladder control is delayed in children with WBS. Although LUTS are not recognized as one of the leading features of the syndrome, it is believed that it should be considered as a significant characteristic of the clinical diagnosis of WBS. CONCLUSIONS: LUTS are highly prevalent in children and adolescents with WBS and have a significant negative impact on patient's quality of life.
Asunto(s)
Síntomas del Sistema Urinario Inferior/epidemiología , Síntomas del Sistema Urinario Inferior/etiología , Calidad de Vida , Encuestas y Cuestionarios , Síndrome de Williams/complicaciones , Adolescente , Distribución por Edad , Niño , Preescolar , Estudios Transversales , Femenino , Humanos , Síntomas del Sistema Urinario Inferior/fisiopatología , Masculino , Nocturia/epidemiología , Nocturia/etiología , Nocturia/fisiopatología , Prevalencia , Pronóstico , Medición de Riesgo , Índice de Severidad de la Enfermedad , Distribución por Sexo , Incontinencia Urinaria/epidemiología , Incontinencia Urinaria/etiología , Incontinencia Urinaria/fisiopatología , Urodinámica , Síndrome de Williams/diagnósticoRESUMEN
Erectile dysfunction (ED) and urinary incontinence are common complications following radical prostatectomy (RP). Although pelvic-floor biofeedback training (PFBT) may improve urinary continence following RP, its effects on the recovery of potency are unknown. Fifty-two patients selected for RP were prospectively randomized for a treatment group (n=26) receiving PFBT once a week for 3 months and home exercises or a control group (n=26), in which patients received verbal instructions to contract the pelvic floor. Erectile function (EF) was evaluated with the International Index of Erectile Function-5 (IIEF-5) before surgery and 1, 3, 6 and 12 months postoperatively. Patients were considered potent when they had a total IIEF-5 score>20. Continence status was assessed and defined as the use of no pads. Groups were comparable in terms of age, body mass index, diabetes, pathological tumor stage and neurovascular bundle preservation. A significant reduction in IIEF-5 scores was observed after surgery in both groups. In the treatment group, 8 (47.1%) patients recovered potency 12 months postoperatively, as opposed to 2 (12.5%) in the control group (P=0.032). The absolute risk reduction was 34.6% (95% confidence interval (CI): 3.8-64%) and the number needed to treat was 3 (95% CI: 1.5-17.2). A strong association between recovery of potency and urinary continence was observed, with continent patients having a 5.4 higher chance of being potent (P=0.04). Early PFBT appears to have a significant impact on the recovery of EF after RP. Urinary continence status was a good indicator of EF recovery, with continent patients having a higher chance of being potent.
Asunto(s)
Biorretroalimentación Psicológica , Diafragma Pélvico/fisiología , Erección Peniana/fisiología , Prostatectomía/rehabilitación , Disfunción Eréctil/etiología , Disfunción Eréctil/terapia , Humanos , Masculino , Contracción Muscular , Cuidados Posoperatorios/métodos , Estudios Prospectivos , Prostatectomía/efectos adversos , Incontinencia Urinaria/etiología , Incontinencia Urinaria/terapiaRESUMEN
Lower urinary tract symptoms (LUTS) and erectile dysfunction (ED) are age-related conditions that may have a profound impact on the quality of life. The relationship between LUTS and ED is not completely understood. In this study, we assessed this relationship in men over 45 years of age during a prostate cancer screening program. LUTS and ED were evaluated in 1267 men aged 45-75 years (mean 58.2+/-8.2 years). Patients completed the International Prostate Symptom Score (IPSS) and the International Index of Erectile Function-5 (IIEF-5). The association between LUTS and ED was analyzed and the influence of age in the results was tested. We also evaluated the influence of the intensity of LUTS in the ED severity. A total of 514 (40.6%) patients were considered symptomatic of LUTS (24.8% with mild, 11.8% with moderate and 4% with severe LUTS). ED was present in 758 (59.9%) men and was considered mild in 25.0%, moderate in 18.3% and severe in 16.7%. The IIEF-5 score had a negative correlation with both the IPSS score (r=-0.33, P<0.001) and age (r=-0.31 and P<0.001). Age was positively associated with the IPSS score (r=0.14 and P<0.001). A significant correlation was observed between LUTS and ED, with 57.6% of the men with LUTS presenting ED as opposed to 29.7% of the asymptomatic population (odds ratio=3.32; 95% CI =2.57-4.29, P<0.001). Age-adjusted univariate analysis revealed a significant and independent influence of LUTS on the incidence of ED (odds ratio=2.72; 95% CI=2.08-3.57, P<0.001). IIEF scores varied significantly according to the severity of the urinary symptoms. Our findings in a prostate cancer screening population confirm that LUTS is an age-independent predictor of ED. Furthermore, they demonstrate that not only the presence of LUTS increases the likelihood of developing ED, but the severity of LUTS is associated with the intensity of ED.