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

Bronchiectasis Kartagener syndrome phenotype primary ciliary dyskinesia registries

Journal

Chest
ISSN: 1931-3543
Titre abrégé: Chest
Pays: United States
ID NLM: 0231335

Informations de publication

Date de publication:
14 Jun 2024
Historique:
received: 12 10 2023
revised: 07 04 2024
accepted: 01 05 2024
medline: 17 6 2024
pubmed: 17 6 2024
entrez: 16 6 2024
Statut: aheadofprint

Résumé

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. 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? We investigated the proportion of PCD among the participants of the German Bronchiectasis Registry PROGNOSIS, applied multiple imputation to account for missing data in 64 (FEV We consecutively recruited 1,000 patients from 38 centers across all levels of the German healthcare system. Overall, PCD was the fifth most common etiology of bronchiectasis in 87 subjects (9%) after idiopathic, post-infective, 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; 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); radiological 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). 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.

Sections du résumé

BACKGROUND 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.
CLINICAL RESEARCH QUESTIONS UNASSIGNED
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 METHODS
We investigated the proportion of PCD among the participants of the German Bronchiectasis Registry PROGNOSIS, applied multiple imputation to account for missing data in 64 (FEV
RESULTS RESULTS
We consecutively recruited 1,000 patients from 38 centers across all levels of the German healthcare system. Overall, PCD was the fifth most common etiology of bronchiectasis in 87 subjects (9%) after idiopathic, post-infective, 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; 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); radiological 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 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.

Identifiants

DOI: 10.1016/j.chest.2024.05.023 PMID: 38880279
pubmed: 38880279
pii: S0012-3692(24)00703-7
doi: 10.1016/j.chest.2024.05.023
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Investigateurs

Borghild Grün (B)
Bad Windsheim (B)
Stefan Dargel (S)
Katarina Ludwig (K)
Andrés de Roux (A)
Ralf Otto-Knapp (R)
Hartmut Lode (H)
Christian Gogoll (C)
Meike Probst (M)
Frank Herrmann (F)
Axel Overlack (A)
Stefan Pabst (S)
Harald Vehar (H)
Stefan Blaas (S)
Bernhard Schaaf (B)
Martin Kolditz (M)
Sivagurunathan Sutharsan (S)
Peter Kardos (P)
Stephan Sorichter (S)
Tobias Scholz (T)
Marco Idzko (M)
Moritz Mohadjer (M)
Stephan Eisenmann (S)
Sven P Aries (SP)
Johannes Lauer-Hermfisse (J)
Sabine Kampf (S)
Sabine Wege (S)
Felix Herth (F)
Santiago Ewig (S)
Christian Reinhardt (C)
Stefan Andreas (S)
Christian Schumann (C)
Ingrid Bobis (I)
Thomas Bahmer (T)
Rita Fey (R)
Martin Jüch (M)
Axel T Kempa (AT)
Erika Piirsoo (E)
Benjamin Klapdor (B)
Pontus Mertsch (P)
Bernhard Schmidt (B)
Holger Hein (H)
Peter Haidl (P)
Jorge Fernando Gamarra (JF)
None Straubing

Informations de copyright

Copyright © 2024. Published by Elsevier Inc.

Auteurs

Raphael Ewen (R)

Department of Respiratory Medicine and Infectious Diseases, Hannover Medical School (MHH), Hannover, Germany; Biomedical Research in End-stage and Obstructive Lung Disease Hannover (BREATH), German Center for Lung Research (DZL), Hannover, Germany; European Reference Network for Rare and Complex Lung Diseases (ERN-LUNG), Frankfurt, Germany.

Isabell Pink (I)

Department of Respiratory Medicine and Infectious Diseases, Hannover Medical School (MHH), Hannover, Germany; Biomedical Research in End-stage and Obstructive Lung Disease Hannover (BREATH), German Center for Lung Research (DZL), Hannover, Germany; European Reference Network for Rare and Complex Lung Diseases (ERN-LUNG), Frankfurt, Germany.

Sivagurunathan Sutharsan (S)

Department of Pulmonary Medicine, University Hospital Essen, Ruhrlandklinik, University Duisburg-Essen, Essen, Germany.

Sven P Aries (SP)

Elbpneumologie MVZ GmbH, Hamburg, Germany.

Achim Grünewaldt (A)

Department of Respiratory Medicine and Allergology, University Hospital, Goethe University Frankfurt, Frankfurt, Germany.

Amelia Shoemark (A)

Respiratory Research Group, Division of Molecular and Clinical Medicine, University of Dundee, Dundee, UK; PCD Diagnostic Service, Royal Brompton Hospital, London, UK.

Urte Sommerwerck (U)

Department of Pneumology, Krankenhaus der Augustinerinnen Cologne, Cologne, Germany.

Ben O Staar (BO)

Department of Respiratory Medicine and Infectious Diseases, Hannover Medical School (MHH), Hannover, Germany; Biomedical Research in End-stage and Obstructive Lung Disease Hannover (BREATH), German Center for Lung Research (DZL), Hannover, Germany; European Reference Network for Rare and Complex Lung Diseases (ERN-LUNG), Frankfurt, Germany.

Sabine Wege (S)

Department of Pneumology and Critical Care Medicine, Thoraxklinik at the University Hospital Heidelberg, Heidelberg, Germany; Translational Lung Research Center Heidelberg (TLRC), German Center for Lung Research (DZL), Heidelberg, Germany.

Pontus Mertsch (P)

Department of Medicine V, University Hospital, LMU Munich, Comprehensive Pneumology Center Munich (CPC-M), Member of the German Center for Lung Research (DZL), Munich, Germany.

Jessica Rademacher (J)

Department of Respiratory Medicine and Infectious Diseases, Hannover Medical School (MHH), Hannover, Germany; Biomedical Research in End-stage and Obstructive Lung Disease Hannover (BREATH), German Center for Lung Research (DZL), Hannover, Germany.

Felix C Ringshausen (FC)

Department of Respiratory Medicine and Infectious Diseases, Hannover Medical School (MHH), Hannover, Germany; Biomedical Research in End-stage and Obstructive Lung Disease Hannover (BREATH), German Center for Lung Research (DZL), Hannover, Germany; European Reference Network for Rare and Complex Lung Diseases (ERN-LUNG), Frankfurt, Germany. Electronic address: Ringshausen.Felix@mh-hannover.de.

Classifications MeSH