Abstract：
BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare genetic disorder caused by the malfunction of motile cilia and a specific etiology of adult bronchiectasis of unknown prevalence. A better understanding of the clinical phenotype of adults with PCD is needed to identify individuals for referral to diagnostic testing.
OBJECTIVE: What is the frequency of PCD among adults with bronchiectasis; how do people with PCD differ from those with other etiologies; and which clinical characteristics are independently associated with PCD?
METHODS: We investigated the proportion of PCD among the participants of the Prospective German Non-CF-Bronchiectasis Registry (PROGNOSIS) study; applied multiple imputation to account for missing data in 64 (FEV1), 58 (breathlessness), 26 (pulmonary exacerbations), and two patients (BMI), respectively; and identified predictive variables from baseline data using multivariate logistic regression analysis.
RESULTS: We consecutively recruited 1,000 patients from 38 centers across all levels of the German health care system. Overall, PCD was the fifth most common etiology of bronchiectasis in 87 patients (9%) after idiopathic, postinfective, COPD, and asthma. People with PCD showed a distinct clinical phenotype. In multivariate regression analysis, the chance of PCD being the etiology of bronchiectasis increased with the presence of upper airway disease (chronic rhinosinusitis and/or nasal polyps; adjusted OR [aOR], 6.3; 95% CI, 3.3-11.9; P < .001), age < 53 years (aOR, 5.3; 95% CI, 2.7-10.4; P < .001), radiologic involvement of any middle and lower lobe (aOR, 3.7; 95% CI, 1.3-10.8; P = .016), duration of bronchiectasis > 15 years (aOR, 3.6; 95% CI, 1.9-6.9; P < .001), and a history of Pseudomonas aeruginosa isolation from respiratory specimen (aOR, 2.4; 95% CI, 1.3-4.5; P = .007).
CONCLUSIONS: Within our nationally representative cohort, PCD was a common etiology of bronchiectasis. We identified few easy-to-assess phenotypic features, which may promote awareness for PCD among adults with bronchiectasis.
BACKGROUND: ClinicalTrials.gov; No.: NCT02574143; URL: www.
RESULTS: gov.
OBJECTIVE: What is the frequency of PCD among adults with bronchiectasis; how do people with PCD differ from those with other etiologies; and which clinical characteristics are independently associated with PCD?
METHODS: We investigated the proportion of PCD among the participants of the Prospective German Non-CF-Bronchiectasis Registry (PROGNOSIS) study; applied multiple imputation to account for missing data in 64 (FEV1), 58 (breathlessness), 26 (pulmonary exacerbations), and two patients (BMI), respectively; and identified predictive variables from baseline data using multivariate logistic regression analysis.
RESULTS: We consecutively recruited 1,000 patients from 38 centers across all levels of the German health care system. Overall, PCD was the fifth most common etiology of bronchiectasis in 87 patients (9%) after idiopathic, postinfective, COPD, and asthma. People with PCD showed a distinct clinical phenotype. In multivariate regression analysis, the chance of PCD being the etiology of bronchiectasis increased with the presence of upper airway disease (chronic rhinosinusitis and/or nasal polyps; adjusted OR [aOR], 6.3; 95% CI, 3.3-11.9; P < .001), age < 53 years (aOR, 5.3; 95% CI, 2.7-10.4; P < .001), radiologic involvement of any middle and lower lobe (aOR, 3.7; 95% CI, 1.3-10.8; P = .016), duration of bronchiectasis > 15 years (aOR, 3.6; 95% CI, 1.9-6.9; P < .001), and a history of Pseudomonas aeruginosa isolation from respiratory specimen (aOR, 2.4; 95% CI, 1.3-4.5; P = .007).
CONCLUSIONS: Within our nationally representative cohort, PCD was a common etiology of bronchiectasis. We identified few easy-to-assess phenotypic features, which may promote awareness for PCD among adults with bronchiectasis.
BACKGROUND: ClinicalTrials.gov; No.: NCT02574143; URL: www.
RESULTS: gov.
摘要：
背景：原发性纤毛运动障碍（PCD）是一种罕见的遗传性疾病，由能动纤毛功能障碍和成人支气管扩张的特定病因引起，患病率未知。需要更好地了解PCD成人的临床表型，以识别转诊诊断测试的个体。
■患有支气管扩张症的成年人中PCD的频率是多少？PCD患者与其他病因的患者有何不同？哪些临床特征与PCD独立相关？
方法：我们调查了德国支气管扩张注册方案参与者中PCD的比例，应用多重插补来解决64(FEV1)中的缺失数据，58（呼吸困难），26（肺加重），和2名受试者（BMI），分别,并使用多变量逻辑回归分析从基线数据中确定预测变量。
结果：我们从德国各级医疗保健系统的38个中心连续招募了1,000名患者。总的来说,PCD是继特发性、感染后,COPD,和哮喘。PCD患者表现出明显的临床表型。在多元回归分析中，PCD是支气管扩张的病因的机会随着上呼吸道疾病的存在而增加（慢性鼻-鼻窦炎和/或鼻息肉；aOR，6.3；95%CI3.3-11.9；P<.001)；年龄<53岁(aOR，5.3；95%CI2.7-10.4；P<.001）；任何中下叶的放射学受累（aOR，3.7；95%CI1.3-10.8；P=0.016)；支气管扩张持续时间>15年(aOR，3.6；95%CI1.9-6.9；P<.001）；以及从呼吸道标本中分离铜绿假单胞菌的病史（aOR，2.4；95%CI1.3-4.5；P=0.007）。
结论：在我们具有全国代表性的队列中，PCD是支气管扩张的常见病因。我们发现了一些易于评估的表型特征，这可能会提高支气管扩张成年人对PCD的认识。
■患有支气管扩张症的成年人中PCD的频率是多少？PCD患者与其他病因的患者有何不同？哪些临床特征与PCD独立相关？
方法：我们调查了德国支气管扩张注册方案参与者中PCD的比例，应用多重插补来解决64(FEV1)中的缺失数据，58（呼吸困难），26（肺加重），和2名受试者（BMI），分别,并使用多变量逻辑回归分析从基线数据中确定预测变量。
结果：我们从德国各级医疗保健系统的38个中心连续招募了1,000名患者。总的来说,PCD是继特发性、感染后,COPD,和哮喘。PCD患者表现出明显的临床表型。在多元回归分析中，PCD是支气管扩张的病因的机会随着上呼吸道疾病的存在而增加（慢性鼻-鼻窦炎和/或鼻息肉；aOR，6.3；95%CI3.3-11.9；P<.001)；年龄<53岁(aOR，5.3；95%CI2.7-10.4；P<.001）；任何中下叶的放射学受累（aOR，3.7；95%CI1.3-10.8；P=0.016)；支气管扩张持续时间>15年(aOR，3.6；95%CI1.9-6.9；P<.001）；以及从呼吸道标本中分离铜绿假单胞菌的病史（aOR，2.4；95%CI1.3-4.5；P=0.007）。
结论：在我们具有全国代表性的队列中，PCD是支气管扩张的常见病因。我们发现了一些易于评估的表型特征，这可能会提高支气管扩张成年人对PCD的认识。
