European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia
Jane Lucas
(1, 2)
,
Angelo Barbato
(3)
,
Samuel Collins
(1, 2)
,
Myrofora Goutaki
(4, 5)
,
Laura Behan
(1, 2)
,
Daan Caudri
(6, 7)
,
Sharon Dell
(8, 9)
,
Ernst Eber
(10)
,
Estelle Escudier
(11, 12)
,
Robert Hirst
(13)
,
Claire Hogg
(14, 15)
,
Mark Jorissen
(16)
,
Philipp Latzin
(4)
,
Marie Legendre
(11, 12)
,
Margaret Leigh
(17)
,
Fabio Midulla
(18)
,
Kim Nielsen
(19)
,
Heymut Omran
(20)
,
Jean-Francois Papon
(21, 22)
,
Petr Pohunek
(23)
,
Beatrice Redfern
(24)
,
David Rigau
(25)
,
Bernhard Rindlisbacher
(26)
,
Francesca Santamaria
(27)
,
Amelia Shoemark
(15, 14)
,
Deborah Snijders
(3)
,
Thomy Tonia
(4)
,
Andrea Titieni
(20)
,
Woolf Walker
(1, 2)
,
Claudius Werner
(20)
,
Andrew Bush
(15, 14)
,
Claudia Kuehni
(4)
1
University of Southampton
2 University Hospital Southampton NHS Foundation Trust
3 Unipd - Università degli Studi di Padova = University of Padua
4 UNIBE - Universität Bern [Bern]
5 Inselspital - Bern University Hospital [Berne]
6 UWA - The University of Western Australia
7 Erasmus University Rotterdam
8 University of Toronto
9 SickKids - The Hospital for sick children [Toronto]
10 Medical University Graz
11 Service de génétique et embryologie médicales [CHU Trousseau]
12 Inserm U933 - Maladies génétiques d'expression pédiatrique [CHU Trousseau]
13 Leicester Royal Infirmary
14 Royal Brompton Hospital
15 Imperial College London
16 University Hospitals Leuven [Leuven]
17 UNC - University of North Carolina [Chapel Hill]
18 UNIROMA - Università degli Studi di Roma "La Sapienza" = Sapienza University [Rome]
19 Copenhagen University Hospital
20 UKM - University Hospital Münster - Universitaetsklinikum Muenster [Germany]
21 Service d’ORL et de chirurgie cervico-faciale [CHU Le Kremlin-Bicêtre]
22 UP11 - Université Paris-Sud - Paris 11
23 CU - Charles University [Prague]
24 PCDFSG - PCD Family Support Group [Milton Keynes, UK]
25 IA2C - Iberoamerican Cochrane Center [Barcelona, Spain]
26 KSPC - Kartagener Syndrom und Primäre Ciliäre Dyskinesie e. V. [Steffisburg, Switzerland]
27 "Federico II" University of Naples Medical School
2 University Hospital Southampton NHS Foundation Trust
3 Unipd - Università degli Studi di Padova = University of Padua
4 UNIBE - Universität Bern [Bern]
5 Inselspital - Bern University Hospital [Berne]
6 UWA - The University of Western Australia
7 Erasmus University Rotterdam
8 University of Toronto
9 SickKids - The Hospital for sick children [Toronto]
10 Medical University Graz
11 Service de génétique et embryologie médicales [CHU Trousseau]
12 Inserm U933 - Maladies génétiques d'expression pédiatrique [CHU Trousseau]
13 Leicester Royal Infirmary
14 Royal Brompton Hospital
15 Imperial College London
16 University Hospitals Leuven [Leuven]
17 UNC - University of North Carolina [Chapel Hill]
18 UNIROMA - Università degli Studi di Roma "La Sapienza" = Sapienza University [Rome]
19 Copenhagen University Hospital
20 UKM - University Hospital Münster - Universitaetsklinikum Muenster [Germany]
21 Service d’ORL et de chirurgie cervico-faciale [CHU Le Kremlin-Bicêtre]
22 UP11 - Université Paris-Sud - Paris 11
23 CU - Charles University [Prague]
24 PCDFSG - PCD Family Support Group [Milton Keynes, UK]
25 IA2C - Iberoamerican Cochrane Center [Barcelona, Spain]
26 KSPC - Kartagener Syndrom und Primäre Ciliäre Dyskinesie e. V. [Steffisburg, Switzerland]
27 "Federico II" University of Naples Medical School
Abstract
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.