European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia.
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.
Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK jlucas1@soton.ac.uk.|University of Southampton Faculty of Medicine, Academic Unit of Clinical and Experimental Medicine, Southampton, UK.
Jane S
JS
Lucas
Primary Ciliary Dyskinesia Centre, Dept of Woman and Child Health (SDB), University of Padova, Padova, Italy.
Angelo
A
Barbato
Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK.|University of Southampton Faculty of Medicine, Academic Unit of Clinical and Experimental Medicine, Southampton, UK.
Samuel A
0000-0003-1571-7410
SA
Collins
Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.|Dept of Paediatrics, Inselspital, University Hospital of Bern, University of Bern, Bern, Switzerland.
Myrofora
M
Goutaki
Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK.|University of Southampton Faculty of Medicine, Academic Unit of Clinical and Experimental Medicine, Southampton, UK.
Laura
L
Behan
Telethon Kids Institute, The University of Western Australia, Subiaco, Australia.|Dept of Pediatrics/Respiratory Medicine, Erasmus University, Rotterdam, The Netherlands.
Daan
D
Caudri
Division of Respiratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.|Dept of Pediatrics and Institute of Health Policy Management and Evaluation, University of Toronto, Toronto, ON, Canada.
Sharon
S
Dell
Division of Paediatric Pulmonology and Allergology, Dept of Paediatrics and Adolescent Medicine, Medical University of Graz, Graz, Austria.
Ernst
E
Eber
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.|Inserm UMR_S933, Sorbonne Universités (UPMC Univ Paris 06), Paris, France.
Estelle
E
Escudier
Centre for PCD Diagnosis and Research, Dept of Infection, Immunity and Inflammation, University of Leicester, Leicester Royal Infirmary, Leicester, UK.
Robert A
RA
Hirst
Depts of Paediatrics and Paediatric Respiratory Medicine, Imperial College and Royal Brompton Hospital, London, UK.
Claire
C
Hogg
ENT Dept, University Hospitals Leuven, Leuven, Belgium.
Mark
M
Jorissen
Dept of Paediatrics, Inselspital, University Hospital of Bern, University of Bern, Bern, Switzerland.
Philipp
P
Latzin
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.|Inserm UMR_S933, Sorbonne Universités (UPMC Univ Paris 06), Paris, France.
Marie
M
Legendre
University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Margaret W
MW
Leigh
Paediatric Dept, Sapienza University of Rome, Rome, Italy.
Fabio
F
Midulla
Danish PCD & chILD Centre, CF Centre Copenhagen, Paediatric Pulmonary Service, Dept of Paediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
Kim G
KG
Nielsen
Dept of Pediatrics, University Hospital Muenster, Münster Germany.
Heymut
H
Omran
AP-HP, Hôpital Kremlin-Bicetre, service d'ORL et de chirurgie cervico-faciale, Le Kremlin-Bicetre, France.|Faculté de Médecine, Université Paris-Sud, Le Kremlin-Bicêtre, France.
Jean-Francois
JF
Papon
Paediatric Dept, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.
Petr
P
Pohunek
PCD Family Support Group, Milton Keynes, UK.
Beatrice
B
Redfern
Iberoamerican Cochrane Center, Barcelona, Spain.
David
D
Rigau
Kartagener Syndrom und Primäre Ciliäre Dyskinesie e. V., Steffisburg, Switzerland.
Bernhard
B
Rindlisbacher
Pediatric Pulmonology, Dept of Translational Medical Sciences, Federico II University, Azienda Ospedaliera Universitaria Federico II, Naples, Italy.
Francesca
F
Santamaria
Depts of Paediatrics and Paediatric Respiratory Medicine, Imperial College and Royal Brompton Hospital, London, UK.
Amelia
A
Shoemark
Primary Ciliary Dyskinesia Centre, Dept of Woman and Child Health (SDB), University of Padova, Padova, Italy.
Deborah
D
Snijders
Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.
Thomy
T
Tonia
Dept of Pediatrics, University Hospital Muenster, Münster Germany.
Andrea
A
Titieni
Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK.|University of Southampton Faculty of Medicine, Academic Unit of Clinical and Experimental Medicine, Southampton, UK.
Woolf T
WT
Walker
Dept of Pediatrics, University Hospital Muenster, Münster Germany.
Claudius
C
Werner
Depts of Paediatrics and Paediatric Respiratory Medicine, Imperial College and Royal Brompton Hospital, London, UK.
Andrew
A
Bush
Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.
Claudia E
CE
Kuehni
D002923:Cilia / Q000473:pathology / Q000648:ultrastructure*; D003697:Delphi Technique; D003937:Diagnosis, Differential; D005060:Europe; D005455:Fluorescent Antibody Technique; D005820:Genetic Testing; D006801:Humans; D007619:Kartagener Syndrome / Q000175:diagnosis* / Q000235:genetics; D046529:Microscopy, Electron, Transmission; D018715:Microscopy, Video; D009569:Nitric Oxide / Q000032:analysis; D012196:Review Literature as Topic; D012955:Societies, Medical
D009569:Nitric Oxide