Williams–Beuren syndrome (WBS) is caused by an haploinsufficiency of the 7q11.2 region which involves the elastin gene (ELN). A deficiency of elastin is a known pathophysiological mechanism of emphysema/chronic obstructive pulmonary disease (COPD). A previous study hypothesized a higher risk of COPD in WBS patients. Herein, this phenomenon was further investigated looking for a possible correlation between COPD and WBS. Dynamic lung volumes (forced vital capacity [FVC], FEV1, FEV1/FVC) were measured in 22 patients (age range 18.9 ± 7.4 years) affected with WBS, genetically confirmed, correlating these parameters to respiratory risk factors. Dyspnea, cough and wheezing were detected in 6/22 (27%) patients. Obstructive and restrictive patterns were identified in 6/22 (27%) and 2/22 (9%) cases, respectively with no evidence of irreversible obstruction. CVF, FEV1 and FEV1/CVF mean values were all normal, with values of 91.3% (n.v. > 80%), 84.2% (n.v. > 80%) and 0.82 (n.v. > 0.7), respectively. The severity of the comorbidities did not show a cause‐effect relation with the respiratory patterns, nevertheless patients treated with anti‐hypertensive drugs had poorer pulmonary function. Our findings are in accordance with previous observations, showing that emphysema/COPD is not a typical finding in young patients with WBS. However, a respiratory function assessment should be included in the follow‐up of WBS patients, especially in adolescents/young adults under treatment with anti‐hypertensive drugs.

中文翻译：

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Williams–Beuren综合征的肺功能：22名意大利患者的肺活量测定数据

Williams–Beuren综合征（WBS）是由7q11.2区域的单倍体功能不足引起的，该区域涉及弹性蛋白基因（ELN）。弹性蛋白的缺乏是肺气肿/慢性阻塞性肺疾病（COPD）的已知病理生理机制。先前的一项研究假设WBS患者的COPD风险较高。在此，进一步研究了这种现象，以寻找COPD和WBS之间的可能关联。经遗传学证实，在22例受WBS影响的患者（年龄范围18.9±7.4岁）中测量了动态肺活量（强制肺活量[FVC]，FEV1，FEV1 / FVC），并将这些参数与呼吸系统危险因素相关联。在6/22（27％）患者中检测到呼吸困难，咳嗽和喘息。分别在6/22（27％）和2/22（9％）的病例中发现了阻塞和限制性模式，没有证据表明存在不可逆的阻塞。CVF，FEV1和FEV1 / CVF平均值均正常，分别为91.3％（nv> 80％），84.2％（nv> 80％）和0。82（nv> 0.7）。合并症的严重程度与呼吸模式没有因果关系，但是使用降压药治疗的患者肺功能较差。我们的发现与以前的观察结果一致，表明肺气肿/ COPD在年轻的WBS患者中不是典型的发现。但是，在WBS患者的随访中应包括呼吸功能评估，尤其是在接受降压药治疗的青少年中。表明在年轻的WBS患者中肺气肿/ COPD不是典型的发现。但是，在WBS患者的随访中应包括呼吸功能评估，尤其是在接受降压药治疗的青少年中。表明在年轻的WBS患者中肺气肿/ COPD不是典型的发现。但是，在WBS患者的随访中应包括呼吸功能评估，尤其是在接受降压药治疗的青少年中。