Evidence map›Paper›PMID 41005984›Full record

GuidelineThe European respiratory journal2025

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

Amelia Shoemark, Myrofora Goutaki, BreAnna Kinghorn, Cristina Ardura-Garcia, Noelia Baz-Redón, Mark Chilvers, Stephanie D Davis, Jana De Brandt, Sharon Dell, Raja Dhar and 13 more

Registry-linked trialAbstract readPractice Guideline
In one paragraph

Guideline in The European respiratory journal, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07566611 (Novel Use of Combined High-Speed Video Microscopy and Nasal Nitric Oxide Screening for Identification of Primary Ciliary Dyskinesia in Adult Bronchiectasis), which is not on this map. Cited by 38 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
38citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT07566611 narecruitingnot on this mapstarted 2026, after this paper: background citation

Novel Use of Combined High-Speed Video Microscopy and Nasal Nitric Oxide Screening for Identification of Primary Ciliary Dyskinesia in Adult Bronchiectasis

TypeinterventionalSponsorIndiana UniversityRan2026 to 2028Enrolled60ConditionsIdiopathic BronchiectasisArmsNasal Nitric Oxide Measurement, Nasopharyngeal (Nasal) Samples
3 · Its place in the literature

Who cites it

38 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Guideline
  2. Article
  3. Article
  4. Article
  5. Pulmonary exacerbations in primary ciliary dyskinesia.European journal of pediatrics · 2026
    Review
  6. AK8 deficiency causes primary ciliary dyskinesia by disrupting energy homeostasis in the airways.American journal of respiratory and critical care medicine · 2026
    Article
  7. Article
  8. Article
  9. Article
  10. Review
  11. Review
  12. Article
  13. Article
  14. Article
  15. Utilising human cellular models of primary ciliary dyskinesia: a scoping review.European respiratory review : an official journal of the European Respiratory Society · 2026
    Article
  16. Article
  17. Article
  18. [Report of 24 cases of primary ciliary dyskinesia in children].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026
    Article
  19. Article
  20. Unrecognized ciliary motility disorders in neutrophilic severe asthma exacerbations.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2026
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

23 authors.

Amelia ShoemarkDepartment of Respiratory and Gastroenterology, University of Dundee, Dundee, UK ashoemark@dundee.ac.uk horani_a@wustl.edu.ORCID https://orcid.org/0000-0001-7360-6060
Myrofora GoutakiInstitute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.ORCID https://orcid.org/0000-0001-8036-2092
BreAnna KinghornUniversity of Washington, Department of Pediatrics, Seattle, WA, USA.ORCID https://orcid.org/0000-0002-3522-5387
Cristina Ardura-GarciaCambodia Oxford Medical Research Unit, Angkor Hospital for Children, Siem Reap, Cambodia.ORCID https://orcid.org/0000-0001-7924-518X
Noelia Baz-RedónGrowth and Development Research Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, Barcelona, Spain.
Mark ChilversDivision of Paediatric Respiratory Medicine, BC Children's Hospital, Vancouver, BC, Canada.
Stephanie D DavisUNC Children's, Department of Pediatrics, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC, USA.
Jana De BrandtFaculty of Medicine, Department of Community Medicine and Rehabilitation, Section of Physiotherapy, Umeå University, Umeå, Sweden.
Sharon DellDepartment of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada.
Raja DharDepartment of Pulmonology, CK Birla Hospitals, Kolkata, India.
Lucy DixonPCD Support UK, Buckingham, UK.
Thomas FerkolUNC Children's, Department of Pediatrics, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC, USA.
Claire HoggPrimary Ciliary Dyskinesia Center, Department of Paediatrics, Royal Brompton Hospital, London, UK.
Marie LegendreSorbonne Université, Assistance Publique Hôpitaux de Paris, Génétique Moléculaire, Hôpital Armand Trousseau, Paris, France.ORCID https://orcid.org/0000-0003-2178-0846
Margaret LeighPCD foundation, Minneapolis, MN, USA.
Jane S LucasPrimary Ciliary Dyskinesia Centre, NIHR Southampton Respiratory Biomedical Research Unit, University Hospital Southampton NHS Foundation Trust, Southampton, UK.ORCID https://orcid.org/0000-0001-8701-9975
Michele ManionPCD foundation, Minneapolis, MN, USA.
Nisreen RummanDepartment of Pediatrics, Faculty of Medicine, Al-Quds University, Abu-Dis, Palestine.
Ingrid ToewsInstitute for Evidence in Medicine, Medical Center - University of Freiburg/Medical Faculty - University of Freiburg, Freiburg, Germany.
Valerie LabonteInstitute for Evidence in Medicine, Medical Center - University of Freiburg/Medical Faculty - University of Freiburg, Freiburg, Germany.ORCID https://orcid.org/0000-0002-6646-3126
Wallace B WeeDivision of Respiratory Medicine, Department of Pediatrics, BC Children's Hospital, Vancouver, BC, Canada.
Panayiotis KouisRespiratory Physiology Laboratory, Medical School, University of Cyprus, Nicosia, Cyprus.ORCID https://orcid.org/0000-0003-0511-5352
Amjad HoraniDepartment of Pediatrics, Washington University School of Medicine, Saint Louis, MO, USA ashoemark@dundee.ac.uk horani_a@wustl.edu.ORCID https://orcid.org/0000-0002-5352-1948

Funding

NRF2 activation program in normal and immotile ciliaR01HL173490 · NHLBI · WASHINGTON UNIVERSITY · PI Amjad Horani · 2024 to 2026
$1.8M
NHLBI NIH HHS R01 HL173490
6 · The paper itself

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.

Indexed as

Kartagener SyndromeEuropeHumansMicroscopy, Electron, TransmissionNitric OxidePulmonary MedicineSocieties, MedicalUnited StatesNitric Oxide

Identifiers

PMID41005984
PMCPMC13101888

What OpenQuestion holds

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Read underepoch 390

Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.