Clinical Follow-Up of Young Adults Affected by Williams Syndrome: Experience of 45 Italian Patients
Clinical Follow-Up of Young Adults Affected by Williams Syndrome: Experience of 45 Italian Patients
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DOI：
10.1002/ajmg.a.33819
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发表时间：
2011-02-01
影响因子：
2
通讯作者：
Selicorni, Angelo
中科院分区：
文献类型：
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作者：
Bedeschi, Maria Francesca;Bianchi, Vera;Selicorni, Angelo
Williams-Beuren综合征（WBS）是一种多系统疾病，需要由熟悉自然病史和与该疾病相关的特定医学问题的初级保健医生进行持续管理。虽然婴儿期疾病的自然史是众所周知的，但关于成年WBS人群的数据仅在过去几年中发表，并显示了广泛的医学，神经学和精神病学问题。我们调查了45名年轻的成年WBS患者（平均年龄23岁，范围17-39岁），使用一个协调良好的团队，其中包括心脏病学家，肾病学家，眼科医生，内分泌学家，胃肠病学家，儿科医生和骨科医生。在这里，我们描述的临床特点和医疗并发症，在这个队列的患者。大多数患者表现出高频率的多器官系统并发症，特别是异常的体质;心血管疾病和高血压;感音神经性听力损失;胃肠道症状，包括憩室病和糖耐量异常。我们提供了一些建议，我们建议将是有益的，在整体护理的成年人与WBS的临床监测。(C)2011 Wiley-Liss，Inc.
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. (C) 2011 Wiley-Liss, Inc.