UOD di Genetica Medica, Dipartimento Salute della donna, del bambino, del neonato, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milano, Italy.
Am J Med Genet A. 2011 Feb;155A(2):353-9. doi: 10.1002/ajmg.a.33819. Epub 2011 Jan 13.
Williams-Beuren syndrome (WBS) is a multisystem disorder that requires ongoing management by a primary care physician familiar with the natural history and specific medical problems associated with the condition. While the natural history of the disease during infancy is well known, data about the adult WBS population have been published only in the last few years, and show a wide range of medical, neurological, and psychiatric problems. We investigated 45 young adult WBS patients (mean age 23 years, range 17-39 years) using a well-coordinated team which included a cardiologist, a nephrologist, an ophthalmologist, an endocrinologist, a gastroenterologist, orthodontist, and orthopedist. Here we describe the clinical features and medical complications in this cohort of patients. Most patients demonstrated a high frequency of multiple organ systems complications, in particular, abnormal body habitus; cardiovascular disease, and hypertension; sensorineural hearing loss; gastrointestinal symptoms including diverticular disease and abnormal glucose tolerance. We offer some suggestions for clinical monitoring which we propose will be useful in the overall care of adults with WBS.
威廉姆斯-贝伦综合征（WBS）是一种多系统疾病，需要由熟悉该病自然史和相关特定医疗问题的初级保健医生进行持续管理。尽管人们已经熟知该病在婴儿期的自然史，但直到最近几年才发表了有关成年 WBS 人群的数据，这些数据显示出广泛的医学、神经和精神问题。我们使用一个协调良好的团队对 45 名年轻的成年 WBS 患者（平均年龄 23 岁，范围 17-39 岁）进行了调查，该团队包括心脏病专家、肾脏病专家、眼科医生、内分泌学家、胃肠病学家、正畸医生和矫形外科医生。在这里，我们描述了该患者队列的临床特征和医疗并发症。大多数患者表现出多个器官系统并发症的高频率，特别是异常的体型；心血管疾病和高血压；感觉神经性听力损失；胃肠道症状包括憩室病和异常葡萄糖耐量。我们提出了一些临床监测建议，我们认为这些建议将对 WBS 成年患者的整体护理有用。
