Primary Ciliary Dyskinesia in Adult Bronchiectasis
Raphael Ewen, Isabell Pink, Sivagurunathan Sutharsan, Sven Philip Aries, Achim Grünewaldt, Amelia Shoemark, Urte Sommerwerck, Ben O. Staar, Sabine Wege, Pontus Mertsch, Jessica Rademacher, Felix C. Ringshausen, Felix C. Ringshausen, Borghild Grün, Bad Windsheim, Stefan Dargel, Katarina Ludwig, Andrés de Roux, Ralf Otto-Knapp, Hartmut Lode, Christian Gogoll, Meike Probst, Frank Herrmann, Axel Overlack, Stefan Pabst, Urte Sommerwerck, Köln; Harald Vehar, Stefan Blaas, Bernhard Schaaf, Martin Kolditz, Sivagurunathan Sutharsan, Essen; Peter Kardos, Achim Grünewaldt, Stephan Sorichter, Tobias Scholz, Marco Idzko, Moritz Mohadjer, Stephan Eisenmann, Sven P. Aries, Johannes Lauer-Hermfisse, Sabine Kampf, Felix C. Ringshausen, Felix C. Ringshausen, Sabine Wege, Felix Herth, Santiago Ewig, Christian Reinhardt, Stefan Andreas, Christian Schumann, Ingrid Bobis, Thomas Bahmer, Kiel; Rita Fey, Martin Jüch, Lostau; Axel T. Kempa, Erika Piirsoo, Benjamin Klapdor, Pontus Mertsch, Bernhard Schmidt, Holger Hein, Peter Haidl, Jorge Fernando Gamarra
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. RESEARCH QUESTION: 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? STUDY DESIGN AND METHODS: ), 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). INTERPRETATION: 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. CLINICAL TRIAL REGISTRATION: ClinicalTrials.gov; No.: NCT02574143; URL: www. CLINICALTRIALS: gov.