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European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia
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.
0903-1936
Lucas, Jane
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Barbato, Angelo
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Collins, Samuel A.
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Goutaki, Myrofora
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Behan, Laura
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Caudri, Daan
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Dell, Sharon
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Eber, Ernst
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Escudier, Estelle
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Hurst, Robert A.
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Hogg, Claire
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Jorissen, Mark
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Latzin, Philipp
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Legendre, Marie
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Leigh, Margaret W.
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Midulla, Fabio
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Nielsen, Kim G.
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Omran, Heymut
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Papon, Jean-Francois
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Pohunek, Petr
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Redfern, Beatrice
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Rigau, David
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Rindlisbacher, Bernhard
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Santamaria, Francesca
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Shoemark, Amelia
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Snijders, Deborah
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Tonia, Thomy
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Titieni, Andrea
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Walker, Woolf T.
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Werner, Claudius
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Bush, Andrew
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Kuehni, Claudia E.
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Lucas, Jane
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Barbato, Angelo
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Collins, Samuel A.
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Goutaki, Myrofora
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Behan, Laura
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Caudri, Daan
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Dell, Sharon
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Eber, Ernst
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Escudier, Estelle
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Hurst, Robert A.
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Hogg, Claire
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Jorissen, Mark
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Latzin, Philipp
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Legendre, Marie
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Leigh, Margaret W.
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Midulla, Fabio
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Nielsen, Kim G.
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Omran, Heymut
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Papon, Jean-Francois
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Pohunek, Petr
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Redfern, Beatrice
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Rigau, David
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Rindlisbacher, Bernhard
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Santamaria, Francesca
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Shoemark, Amelia
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Snijders, Deborah
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Tonia, Thomy
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Titieni, Andrea
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Walker, Woolf T.
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Werner, Claudius
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Bush, Andrew
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Kuehni, Claudia E.
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Lucas, Jane, Barbato, Angelo, Collins, Samuel A., Goutaki, Myrofora, Behan, Laura, Caudri, Daan, Dell, Sharon, Eber, Ernst, Escudier, Estelle, Hurst, Robert A., Hogg, Claire, Jorissen, Mark, Latzin, Philipp, Legendre, Marie, Leigh, Margaret W., Midulla, Fabio, Nielsen, Kim G., Omran, Heymut, Papon, Jean-Francois, Pohunek, Petr, Redfern, Beatrice, Rigau, David, Rindlisbacher, Bernhard, Santamaria, Francesca, Shoemark, Amelia, Snijders, Deborah, Tonia, Thomy, Titieni, Andrea, Walker, Woolf T., Werner, Claudius, Bush, Andrew and Kuehni, Claudia E. (2017) European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia. European Respiratory Journal, 49 (1). (doi:10.1183/13993003.01090-2016).

Record type: Article

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.

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Accepted/In Press date: 25 August 2016
e-pub ahead of print date: 4 January 2017
Published date: January 2017

Identifiers

Local EPrints ID: 412512
URI: https://eprints.soton.ac.uk/id/eprint/412512
ISSN: 0903-1936
PURE UUID: c2c7b741-796c-458d-8e51-3d796a22a54c
ORCID for Samuel A. Collins: ORCID iD orcid.org/0000-0003-1571-7410

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Date deposited: 17 Jul 2017 14:03
Last modified: 10 Dec 2019 06:10

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Contributors

Author: Jane Lucas
Author: Angelo Barbato
Author: Samuel A. Collins ORCID iD
Author: Myrofora Goutaki
Author: Laura Behan
Author: Daan Caudri
Author: Sharon Dell
Author: Ernst Eber
Author: Estelle Escudier
Author: Robert A. Hurst
Author: Claire Hogg
Author: Mark Jorissen
Author: Philipp Latzin
Author: Marie Legendre
Author: Margaret W. Leigh
Author: Fabio Midulla
Author: Kim G. Nielsen
Author: Heymut Omran
Author: Jean-Francois Papon
Author: Petr Pohunek
Author: Beatrice Redfern
Author: David Rigau
Author: Bernhard Rindlisbacher
Author: Francesca Santamaria
Author: Amelia Shoemark
Author: Deborah Snijders
Author: Thomy Tonia
Author: Andrea Titieni
Author: Woolf T. Walker
Author: Claudius Werner
Author: Andrew Bush
Author: Claudia E. Kuehni

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