Skip to main content

Main menu

  • Home
  • Current issue
  • Past issues
  • Authors/reviewers
    • Instructions for authors
    • Submit a manuscript
    • Peer reviewer login
  • Journal club
  • Alerts
  • Subscriptions
  • ERS Publications
    • European Respiratory Journal
    • ERJ Open Research
    • European Respiratory Review
    • Breathe
    • ERS Books
    • ERS publications home

User menu

  • Log in
  • Subscribe
  • Contact Us
  • My Cart

Search

  • Advanced search
  • ERS Publications
    • European Respiratory Journal
    • ERJ Open Research
    • European Respiratory Review
    • Breathe
    • ERS Books
    • ERS publications home

Login

European Respiratory Society

Advanced Search

  • Home
  • Current issue
  • Past issues
  • Authors/reviewers
    • Instructions for authors
    • Submit a manuscript
    • Peer reviewer login
  • Journal club
  • Alerts
  • Subscriptions

Diagnosis of primary ciliary dyskinesia: summary of the ERS Task Force report

Claudia E. Kuehni, Jane S. Lucas
Breathe 2017 13: 166-178; DOI: 10.1183/20734735.008517
Claudia E. Kuehni
1Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland
2Paediatric Respiratory Medicine, Inselspital, University Children’s Hospital of Bern, University of Bern, Bern, Switzerland
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • For correspondence: claudia.kuehni@ispm.unibe.ch
Jane S. Lucas
3Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK
4NIHR Southampton Biomedical Research Centre, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton, UK
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • Article
  • Figures & Data
  • Info & Metrics
  • PDF
Loading

Figures

  • Tables
  • Supplementary Materials
  • Figure 1
    • Download figure
    • Open in new tab
    • Download powerpoint
    Figure 1

    Diagram of the ultrastructure of the normal ciliary axoneme in transverse section. Reproduced from [5].

  • Figure 2
    • Download figure
    • Open in new tab
    • Download powerpoint
    Figure 2

    Electron microscopy images of defects seen in patients with primary ciliary dyskinesia. a) Outer dynein arm defect. b) Inner dynein arm and microtubular disarrangement. Reproduced and modified from [5].

  • Figure 3
    • Download figure
    • Open in new tab
    • Download powerpoint
    Figure 3

    The role of primary care physicians, specialists and PCD diagnostic centres in diagnosing and managing patients with PCD.

  • Figure 4
    • Download figure
    • Open in new tab
    • Download powerpoint
    Figure 4

    Algorithm for diagnostic assessment of patients for PCD proposed by the ERS Task Force. This is a simplified version of the previously published diagram; see the full Task Force report [5] for details.

  • Figure 5
    • Download figure
    • Open in new tab
    • Download powerpoint
    Figure 5

    Further steps after diagnostic workup and management for patients with positive, highly likely, highly unlikely and inconclusive diagnostic data. MRI: magnetic resonance imaging; CT: computed tomography.

Tables

  • Figures
  • Supplementary Materials
  • Table 1

    Characteristic symptoms in patients with PCD, stratified by age#

    NeonatesSitus abnormalities
     Normal situs (∼47%)
     Situs inversus totalis (∼47%)
     Situs ambiguus with or without cardiac defects (∼6–12%)
    Neonatal respiratory distress
     At term with no risk factors
     Prolonged oxygen requirement
     Atelectasis on radiography
    Persistent rhinorrhoea
    Family history of PCD
    ChildhoodWet cough
     Typically starts in infancy
     Persistent, year-round, doesn’t completely resolve with antibiotics
    Bronchiectasis
     Sometimes present in pre-school year
    Chronic rhinitis typically starts in infancy
     Persistent, year round even when “well”
    Otitis media with effusion (“glue ear”)
    Conductive hearing loss
     Variability within and between patients, normal to requiring hearing aids
     Mucopurulent discharge complicates ventilation tube insertion (evidence poor)
    Adolescents and adultsAs for children, plus
     Bronchiectasis
      Almost universal by adulthood
     Rhinosinusitis, variability within and between patients; symptoms might include
      Persistent nasal blockage and discharge
      Conductive hearing loss
      Sinusitis
      Anosmia
      Nasal polyposis
     Male infertility (not 100% and incidence unclear)
     Female fertility issues (incidence unclear)

    Not all symptoms may be present. Although individual symptoms are nonspecific, the combination of symptoms is a strong indicator. The early onset and persistence of airway symptoms is typical. #: as hardly any of the available publications has been stratified by age, this table is mainly based on the authors’ expert opinion and will change as good epidemiological data become available; it is based mainly on the pulmonologist’s perspective, as few papers come from ENT, fertility, cardiology or neonatal services and reflect their patient mix.

    • Table 2

      Diagnostic tests for PCD with specification of rationale, requirements for infrastructure, strengths and limitations, and contribution to the final diagnosis

      InvestigationRationaleInfrastructure requiredStrengths and limitationsContribution to final decision
      nNOVery low in most PCD patientsChemiluminescence analyser (portable analysers are acceptable for screening)
      Staff trained to take measurements and interpret results according to ATS/ERS standards [21]
      Sensitivity and specificity good but not 100%
      International measurements standards
      “Gold standard” (velum closure) impossible in young children
      Tidal breathing method as alternative in young children but healthy infants have low nNO
      Screening test for patients with clinical symptoms
      Contributes to diagnostic decision but in isolation does not rule in or rule out PCD
      HSVA
       CBFCBF can be slow or fast in some patients with PCDHigh-speed video (capable of 250–500 fps) attached to high-resolution microscope
      Observer with extensive experience of normal and abnormal
      Neither sensitive nor specific
      No standards for measurement or reporting
      Should only be used in combination with CBP
       CBPAbnormal ciliary beating is a feature of PCDHigh-speed video (capable of 250–500 fps) attached to high-resolution microscope
      Observer with extensive experience of normal and abnormal
      Accuracy improved by reanalysis following cell culture (to mitigate secondary defects)
      Sensitivity excellent but specificity can be a problem due to secondary defects (e.g. infections)
      No standards for measurement or reporting
      Contributes to diagnostic decision but in isolation does not rule in or rule out PCD
      TEMAbnormal ciliary ultrastructure is a feature of some phenotypesElectron microscope
      Observer with extensive experience of normal and abnormal
      Analysis of sufficient cilia (e.g. 100) in transverse section from different healthy cells
      Diagnostic if “hallmark” abnormalities are found
      Sensitivity limited, as 15–20% of patients have normal ultrastructure; not useful in isolation
      No standards for measurement or reporting
      Confirms the diagnosis if “hallmark” abnormalities are present
      Does not rule out PCD if normal
      GenotypingPCD is a genetic disorderSpecialist genetic services with knowledge of the complexities of PCD
      Parental segregation for new mutations
      Diagnostic if pathogenic biallelic mutations found
      No studies have investigated its role as a diagnostic test
      National and international standards for clinical genetic reports
      Confirms diagnosis if pathogenic biallelic mutations are identified
      Known mutations are identified in 65% of patients with PCD
      Does not rule out PCD
      IF staining of proteinsSpecific proteins are missing from ciliaStandard pathology IF labelling
      Observer with extensive experience of normal and abnormal
      Faster and cheaper to assess ciliary ultrastructure than TEM
      Antibodies not commercially available for all ciliary proteins
      No standards for measurement or reporting
      Until Task Force report, no publications on role as a diagnostic test
      A recent single-centre study suggests usefulness

      CBF: ciliary beat frequency; CBP: ciliary beat pattern; ATS: American Thoracic Society; fps: frames per second.

      Supplementary Materials

      • Figures
      • Tables
      • Supplementary Material

        J.S. Lucas EDU-0085-2017_Lucas

      PreviousNext
      Back to top
      Vol 13 Issue 3 Table of Contents
      Breathe: 13 (3)
      • Table of Contents
      • Index by author
      Email

      Thank you for your interest in spreading the word on European Respiratory Society .

      NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. We do not capture any email address.

      Enter multiple addresses on separate lines or separate them with commas.
      Diagnosis of primary ciliary dyskinesia: summary of the ERS Task Force report
      (Your Name) has sent you a message from European Respiratory Society
      (Your Name) thought you would like to see the European Respiratory Society web site.
      CAPTCHA
      This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.
      Print
      Citation Tools
      Diagnosis of primary ciliary dyskinesia: summary of the ERS Task Force report
      Claudia E. Kuehni, Jane S. Lucas
      Breathe Sep 2017, 13 (3) 166-178; DOI: 10.1183/20734735.008517

      Citation Manager Formats

      • BibTeX
      • Bookends
      • EasyBib
      • EndNote (tagged)
      • EndNote 8 (xml)
      • Medlars
      • Mendeley
      • Papers
      • RefWorks Tagged
      • Ref Manager
      • RIS
      • Zotero

      Share
      Diagnosis of primary ciliary dyskinesia: summary of the ERS Task Force report
      Claudia E. Kuehni, Jane S. Lucas
      Breathe Sep 2017, 13 (3) 166-178; DOI: 10.1183/20734735.008517
      Reddit logo Technorati logo Twitter logo Connotea logo Facebook logo Mendeley logo
      Full Text (PDF)

      Jump To

      • Article
        • Abstract
        • Abstract
        • What is primary ciliary dyskinesia?
        • The PCD diagnostic Task Force of the European Respiratory Society
        • Which patients should be referred for PCD diagnostics?
        • Which tests are used in a PCD reference centre for diagnosis?
        • What should happen after diagnostic tests?
        • Conclusion and future perspectives
        • Disclosures
        • Acknowledgements
        • Footnotes
        • References
      • Figures & Data
      • Info & Metrics
      • PDF
      • Tweet Widget
      • Facebook Like
      • Google Plus One

      More in this TOC Section

      • Management of difficult-to-treat asthma in adolescence and young adults
      • Respiratory complications of obesity
      • Diagnosis and management of PH in infants with BPD
      Show more Reviews

      Related Articles

      Navigate

      • Home
      • Current issue
      • Archive

      About Breathe

      • Journal information
      • Editorial board
      • Press
      • Permissions and reprints
      • Advertising

      The European Respiratory Society

      • Society home
      • myERS
      • Privacy policy
      • Accessibility

      ERS publications

      • European Respiratory Journal
      • ERJ Open Research
      • European Respiratory Review
      • Breathe
      • ERS books online
      • ERS Bookshop

      Help

      • Feedback

      For authors

      • Intructions for authors
      • Publication ethics and malpractice
      • Submit a manuscript

      For readers

      • Alerts
      • Subjects
      • RSS

      Subscriptions

      • Accessing the ERS publications

      Contact us

      European Respiratory Society
      442 Glossop Road
      Sheffield S10 2PX
      United Kingdom
      Tel: +44 114 2672860
      Email: journals@ersnet.org

      ISSN

      Print ISSN: 1810-6838
      Online ISSN: 2073-4735

      Copyright © 2023 by the European Respiratory Society