König P, Boxer R, Morrison J, Pletcher B
Department of Child Health, University of Missouri Health Sciences Center, Columbia 65212.
Pediatr Pulmonol. 1991;11(1):29-36. doi: 10.1002/ppul.1950110106.
Marfan syndrome is known to have pulmonary manifestations such as pneumothorax. There have been few previous studies of pulmonary function tests and none of bronchial hyperreactivity. Therefore, pulmonary function tests were performed in 11 children with Marfan syndrome and 11 normal children. Bronchial responsiveness was tested in ten of the Marfan patients by methacholine challenge test and response to bronchodilator. Because of disproportionate length of legs in Marfan patients, an "ideal" standing height was calculated from sitting height. Pulmonary function tests, as absolute values or as percent predicted based on "ideal" height, were not different in Marfan patients and normals, although a few individual patients had abnormal function (mostly airway obstruction and hyperinflation). Response to methacholine challenge was positive on forced expiratory volume in 1 second (FEV1), forced expiratory flow between 25 and 75% VC (FEF25-75%), and FEF50%, in 37.5%, 60%, and 70% of tests respectively. A significant response to bronchodilators was obtained in 40% of patients as measured by FEV1, in 90% by FEF25-75% and in 100% by FEF50%. Pulmonary function tests after bronchodilator were significantly higher when compared with values before the bronchodilator as well as with the baseline before methacholine. Therefore, most if not all patients with Marfan syndrome had hyperreactive airways in this relatively small group of patients. Even though only one patient had a diagnosis of asthma, six more had subtle symptoms. It is concluded that tests for bronchial hyperreactivity could be part of the routine investigation in Marfan syndrome. Further studies on larger numbers of patients are still needed.
众所周知，马凡综合征有气胸等肺部表现。此前关于肺功能测试的研究较少，且尚无支气管高反应性的相关研究。因此，对11名马凡综合征患儿和11名正常儿童进行了肺功能测试。通过对10名马凡综合征患者进行乙酰甲胆碱激发试验和支气管扩张剂反应测试来检测支气管反应性。由于马凡综合征患者腿部长度不成比例，根据坐高计算出“理想”身高。肺功能测试结果，无论是绝对值还是基于“理想”身高的预测百分比，在马凡综合征患者和正常人中并无差异，尽管有少数个体患者肺功能异常（主要是气道阻塞和肺过度充气）。乙酰甲胆碱激发试验中，分别有37.5%、60%和70%的测试中，1秒用力呼气容积（FEV1）、肺活量25%至75%之间的用力呼气流量（FEF25 - 75%）和FEF50%出现阳性反应。以FEV1衡量，40%的患者对支气管扩张剂有显著反应；以FEF25 - 75%衡量，90%的患者有显著反应；以FEF50%衡量，100%的患者有显著反应。支气管扩张剂使用后的肺功能测试结果与使用前以及乙酰甲胆碱激发试验前的基线值相比显著更高。因此，在这一相对较小的患者群体中，大多数（即便不是全部）马凡综合征患者存在气道高反应性。尽管只有一名患者被诊断为哮喘，但另有六名患者有轻微症状。结论是，支气管高反应性测试可作为马凡综合征常规检查的一部分。仍需要对更多患者进行进一步研究。
