Primary Ciliary Dyskinesia in Adult Bronchiectasis: Data from the German Bronchiectasis Registry PROGNOSIS

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 (Lead / Corresponding author), PROGNOSIS Study Group

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)
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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: 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). 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

Original languageEnglish
Pages (from-to)938-950
Number of pages13
JournalChest
Volume166
Issue number5
Early online date14 Jun 2024
DOIs
Publication statusPublished - Nov 2024

Keywords

  • bronchiectasis
  • Kartagener syndrome
  • phenotype
  • primary ciliary dyskinesia
  • registries

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine
  • Critical Care and Intensive Care Medicine
  • Cardiology and Cardiovascular Medicine

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