Schulman S L, Zderic S, Kaplan P
Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, USA.
J Pediatr. 1996 Sep;129(3):466-9. doi: 10.1016/s0022-3476(96)70086-0.
Thirteen of 41 patients (32%) with Williams syndrome in a multidisciplinary clinic were noted to have genitourinary symptoms. The predominant features were increased urinary frequency and daytime wetting. Four patients had bladder diverticula and uninhibited detrusor contractions as demonstrated on urodynamic studies. We speculate that there may be an association between increased detrusor pressure, an abnormal bladder matrix, and the presence of diverticula. Early detection of urinary dysfunction through clinical symptoms and appropriate urodynamic studies, with institution of bladder training and anticholinergic medication can improve the patients' voiding patterns, both medically and socially.
在一家多学科诊所的41名威廉姆斯综合征患者中，有13名（32%）被发现有泌尿生殖系统症状。主要特征是尿频和日间遗尿。4名患者经尿动力学研究证实有膀胱憩室和逼尿肌无抑制性收缩。我们推测逼尿肌压力增加、膀胱基质异常和憩室的存在之间可能存在关联。通过临床症状和适当的尿动力学研究早期发现排尿功能障碍，并进行膀胱训练和使用抗胆碱能药物，在医学和社会层面都可以改善患者的排尿模式。
