Journal article

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

  • Lucas JS Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK jlucas1@soton.ac.uk.
  • Barbato A Primary Ciliary Dyskinesia Centre, Dept of Woman and Child Health (SDB), University of Padova, Padova, Italy.
  • Collins SA Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
  • Goutaki M Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.
  • Behan L Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
  • Caudri D Telethon Kids Institute, The University of Western Australia, Subiaco, Australia.
  • Dell S Division of Respiratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.
  • Eber E Division of Paediatric Pulmonology and Allergology, Dept of Paediatrics and Adolescent Medicine, Medical University of Graz, Graz, Austria.
  • Escudier E Service de Génétique et Embryologie Médicales, Centre de Référence des Maladies Respiratoires Rares, Hôpital Armand Trousseau, Assistance Publique - Hôpitaux de Paris (AP-HP), Paris, France.
  • Hirst RA Centre for PCD Diagnosis and Research, Dept of Infection, Immunity and Inflammation, University of Leicester, Leicester Royal Infirmary, Leicester, UK.
  • Hogg C Depts of Paediatrics and Paediatric Respiratory Medicine, Imperial College and Royal Brompton Hospital, London, UK.
  • Jorissen M ENT Dept, University Hospitals Leuven, Leuven, Belgium.
  • Latzin P Dept of Paediatrics, Inselspital, University Hospital of Bern, University of Bern, Bern, Switzerland.
  • Legendre M Service de Génétique et Embryologie Médicales, Centre de Référence des Maladies Respiratoires Rares, Hôpital Armand Trousseau, Assistance Publique - Hôpitaux de Paris (AP-HP), Paris, France.
  • Leigh MW University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
  • Midulla F Paediatric Dept, Sapienza University of Rome, Rome, Italy.
  • Nielsen KG Danish PCD & chILD Centre, CF Centre Copenhagen, Paediatric Pulmonary Service, Dept of Paediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
  • Omran H Dept of Pediatrics, University Hospital Muenster, Münster Germany.
  • Papon JF AP-HP, Hôpital Kremlin-Bicetre, service d'ORL et de chirurgie cervico-faciale, Le Kremlin-Bicetre, France.
  • Pohunek P Paediatric Dept, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.
  • Redfern B PCD Family Support Group, Milton Keynes, UK.
  • Rigau D Iberoamerican Cochrane Center, Barcelona, Spain.
  • Rindlisbacher B Kartagener Syndrom und Primäre Ciliäre Dyskinesie e. V., Steffisburg, Switzerland.
  • Santamaria F Pediatric Pulmonology, Dept of Translational Medical Sciences, Federico II University, Azienda Ospedaliera Universitaria Federico II, Naples, Italy.
  • Shoemark A Depts of Paediatrics and Paediatric Respiratory Medicine, Imperial College and Royal Brompton Hospital, London, UK.
  • Snijders D Primary Ciliary Dyskinesia Centre, Dept of Woman and Child Health (SDB), University of Padova, Padova, Italy.
  • Tonia T Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.
  • Titieni A Dept of Pediatrics, University Hospital Muenster, Münster Germany.
  • Walker WT Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
  • Werner C Dept of Pediatrics, University Hospital Muenster, Münster Germany.
  • Bush A Depts of Paediatrics and Paediatric Respiratory Medicine, Imperial College and Royal Brompton Hospital, London, UK.
  • Kuehni CE Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.
Show more…
  • 2016-11-13
Published in:
  • The European respiratory journal. - 2017
English The diagnosis of primary ciliary dyskinesia is often confirmed with standard, albeit complex and expensive, tests. In many cases, however, the diagnosis remains difficult despite the array of sophisticated diagnostic tests. There is no "gold standard" reference test. Hence, a Task Force supported by the European Respiratory Society has developed this guideline to provide evidence-based recommendations on diagnostic testing, especially in light of new developments in such tests, and the need for robust diagnoses of patients who might enter randomised controlled trials of treatments. The guideline is based on pre-defined questions relevant for clinical care, a systematic review of the literature, and assessment of the evidence using the GRADE (Grading of Recommendations, Assessment, Development and Evaluation) approach. It focuses on clinical presentation, nasal nitric oxide, analysis of ciliary beat frequency and pattern by high-speed video-microscopy analysis, transmission electron microscopy, genotyping and immunofluorescence. It then used a modified Delphi survey to develop an algorithm for the use of diagnostic tests to definitively confirm and exclude the diagnosis of primary ciliary dyskinesia; and to provide advice when the diagnosis was not conclusive. Finally, this guideline proposes a set of quality criteria for future research on the validity of diagnostic methods for primary ciliary dyskinesia.
Language
  • English
Open access status
bronze
Identifiers
Persistent URL
https://sonar.ch/global/documents/173560
Statistics

Document views: 9 File downloads:
  • fulltext.pdf: 0