European Respiratory Society and American Thoracic Society guidelines for the diagnosis of primary ciliary dyskinesia

Primary ciliary dyskinesia (PCD) is caused by pathogenetic variants in more than 55 genes. PCD is associated with early-onset chronic wet cough and rhinosinusitis, laterality defects, middle ear disease and reduced fertility. The clinical presentation is heterogeneous, and diagnosis often relies on multiple tests. The American Thoracic Society (ATS) and European Respiratory Society (ERS) have previously developed separate guidelines for diagnosis. Here, ERS and ATS members systematically reviewed the literature on diagnostic tools used in practice and developed unified evidence-based guidelines for PCD diagnosis using Grading of Recommendations, Assessment, Development and Evaluations methodology, and a transparent process of decision-making using evidence-to-decision frameworks. The Task Force panel formulated three PICO (Patients, Intervention, Comparison, Outcome) questions and three narrative questions. The accuracies of high-speed video microscopy, immunofluorescence and nasal nitric oxide were compared to a reference test of transmission electron microscopy and/or genetics. The panel gives a strong recommendation for use of high-speed video microscopy, immunofluorescence and nasal nitric oxide as adjunct tests to transmission electron microscopy and/or genetics for PCD diagnosis. However, no adjunct test is suitable as a standalone test to diagnose PCD and no single adjunct or reference test is suitable to exclude PCD. Pursuing a genetic diagnosis is encouraged owing to the implications for management. The panel emphasises that tests should meet a minimum standard and proposes that patients are evaluated at a referral centre experienced in diagnosis. The pre-test probability based on symptoms should be considered when interpreting results.

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Publication Details

Journal
European Respiratory Journal
Published
2025-09-26
DOI
https://doi.org/10.1183/13993003.00745-2025
Citations
13
Primary Topic
Cystic Fibrosis Research Advances
Type
article
Field-Weighted Citation Impact
19.74
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article

European Respiratory Society and American Thoracic Society guidelines for the diagnosis of primary ciliary dyskinesia

Cristina Ardura‐Garcia, Margaret W. Leigh, Sharon Dell, Claire Hogg et al.
13 citations
European Respiratory Journal
Cystic Fibrosis Research Advances
19.74
article

European Respiratory Society and American Thoracic Society guidelines for the diagnosis of primary ciliary dyskinesia

Cristina Ardura‐Garcia, Margaret W. Leigh, Sharon Dell, Claire Hogg, Panayiotis Κouis, Valérie Labonté, Amjad Horani, Myrofora Goutaki, Marie Legendre, Jane S. Lucas, Raja Dhar, Nisreen Rumman, Wallace B. Wee, Ingrid Toews, Stephanie D. Davis, BreAnna Kinghorn, Amelia Shoemark, Mark Chilvers, Jana De Brandt, Michele Manion, Lucy Dixon, Noelia Baz-Redón, Thomas Ferkol
article en
13 citations

Abstract

Primary ciliary dyskinesia (PCD) is caused by pathogenetic variants in more than 55 genes. PCD is associated with early-onset chronic wet cough and rhinosinusitis, laterality defects, middle ear disease and reduced fertility. The clinical presentation is heterogeneous, and diagnosis often relies on multiple tests. The American Thoracic Society (ATS) and European Respiratory Society (ERS) have previously developed separate guidelines for diagnosis. Here, ERS and ATS members systematically reviewed the literature on diagnostic tools used in practice and developed unified evidence-based guidelines for PCD diagnosis using Grading of Recommendations, Assessment, Development and Evaluations methodology, and a transparent process of decision-making using evidence-to-decision frameworks. The Task Force panel formulated three PICO (Patients, Intervention, Comparison, Outcome) questions and three narrative questions. The accuracies of high-speed video microscopy, immunofluorescence and nasal nitric oxide were compared to a reference test of transmission electron microscopy and/or genetics. The panel gives a strong recommendation for use of high-speed video microscopy, immunofluorescence and nasal nitric oxide as adjunct tests to transmission electron microscopy and/or genetics for PCD diagnosis. However, no adjunct test is suitable as a standalone test to diagnose PCD and no single adjunct or reference test is suitable to exclude PCD. Pursuing a genetic diagnosis is encouraged owing to the implications for management. The panel emphasises that tests should meet a minimum standard and proposes that patients are evaluated at a referral centre experienced in diagnosis. The pre-test probability based on symptoms should be considered when interpreting results.

European Respiratory JournalVol. 66(6)
University of North Carolina at Chapel Hill (US), University of Bern (CH), Seattle Children's Hospital (US), University of North Carolina Health Care (US), University of British Columbia (CA), Inserm (FR), University of Nicosia (CY), University of Dundee (GB), Saint Louis University (ES), Buckinghamshire New University (GB), University of Washington (US), Washington University in St. Louis (US), Al-Quds University (PS), Angkor Hospital for Children (KH), University Hospital of Bern (CH), University Medical Center Freiburg (DE), Instituto de Salud Carlos III (ES), University Hospital Southampton NHS Foundation Trust (GB), University of Cyprus (CY), Sorbonne Université (FR), Hôpital Armand-Trousseau (FR), Royal Brompton Hospital (GB), Care India (IN), Vall d'Hebron Institut de Recerca (ES), Centre for Biomedical Network Research on Rare Diseases (ES), Cambodia-Oxford Medical Research Unit (KH), NIHR Southampton Biomedical Research Centre (GB), Vall d'Hebron Hospital Universitari (ES), The Task Force for Global Health (US), RP Fighting Blindness (GB), Institute of Social and Preventive Medicine (CH), BC Children's Hospital (CA), Minneapolis Foundation (US), Orthopaedic Research Foundation (US), University of Southampton (GB), Maladies génétiques d’expression pédiatrique, AMRI Hospitals (IN), Hasselt University (BE), Umeå University (SE), University of Buckingham (GB)
Openalex Percentile: Top 0%
Cystic Fibrosis Research Advances
19.74
DOISourceOpenAlex
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