• Raphael Ewen, Isabell Pink, Sivagurunathan Sutharsan, Sven P Aries, Achim Grünewaldt, Amelia Shoemark, Urte Sommerwerck, Ben O Staar, Sabine Wege, Pontus Mertsch, Jessica Rademacher, Felix C Ringshausen, and PROGNOSIS Study Group.
• Department of Respiratory Medicine and Infectious Diseases, Hannover Medical School, Hannover, Germany; Biomedical Research in End-stage and Obstructive Lung Disease Hannover, German Center for Lung Research, Hannover, Germany; European Reference Network for Rare and Complex Lung Diseases, Frankfurt, Germany.
• Chest. 2024 Nov 1; 166 (5): 938950938-950.

BackgroundPrimary 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.Research QuestionWhat 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?Study Design And MethodsWe 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.ResultsWe 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).InterpretationWithin 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.Clinical Trial RegistrationClinicalTrials.gov; No.: NCT02574143; URL: www.Clinicaltrialsgov.Copyright © 2024 The Author(s). Published by Elsevier Inc. All rights reserved.

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