Department of Pediatric Urology, Health Sciences University, Kanuni Sultan Süleyman Training and Research Hospital, Istanbul, Turkey,
Urol Int. 2021;105(1-2):159-162. doi: 10.1159/000510529. Epub 2020 Sep 30.
Williams-Beuren syndrome (WBS) is a genetic, well-defined, rare, neurodevelopmental disorder characterized by intellectual disability, congenital heart defects, abnormal facial features, and growth, endocrine, and genitourinary abnormalities. The genitourinary abnormalities in WBS frequently include congenital structural renal defects, vesicoureteral reflux, nephrocalcinosis, proteinuria, and chronic renal insufficiency. Treatment of patients with posterior urethral valve (PUV) remains a clinical challenge, requiring long-term management from early infancy into adulthood in order to avoid progressive renal insufficiency. To my knowledge, this is the first worldwide case of WBS with PUV in a 12-year-old boy. Due to the delayed detection of the defect, chronic renal disease occurred as a risk for him. This case demonstrates the importance of early diagnosis of genitourinary anomalies such as PUV to prevent chronic renal disease in boys and especially in patients with WBS.
威廉姆斯-贝伦综合征（WBS）是一种遗传性、明确的、罕见的神经发育障碍，其特征为智力残疾、先天性心脏缺陷、面部特征异常以及生长、内分泌和泌尿生殖系统异常。WBS 的泌尿生殖系统异常常包括先天性结构性肾脏缺陷、膀胱输尿管反流、肾钙质沉着症、蛋白尿和慢性肾功能不全。治疗后尿道瓣膜（PUV）患者仍然是一个临床挑战，需要从婴儿期开始进行长期管理，直至成年，以避免进行性肾功能不全。据我所知，这是首例全世界范围内 12 岁男孩患有 WBS 合并 PUV 的病例。由于该缺陷的延迟发现，慢性肾病成为了他的一个风险因素。该病例说明了早期诊断 PUV 等泌尿生殖系统异常的重要性，以预防男孩、尤其是 WBS 患者的慢性肾病。
