RT Journal Article SR Electronic T1 European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia JF European Respiratory Journal JO Eur Respir J FD European Respiratory Society SP ERJ-01090-2016 DO 10.1183/13993003.01090-2016 A1 Jane S. Lucas A1 Angelo Barbato A1 Samuel A. Collins A1 Myrofora Goutaki A1 Laura Behan A1 Daan Caudri A1 Sharon Dell A1 Ernst Eber A1 Estelle Escudier A1 Robert A. Hirst A1 Claire Hogg A1 Mark Jorissen A1 Philipp Latzin A1 Marie Legendre A1 Margaret W. Leigh A1 Fabio Midulla A1 Kim G. Nielsen A1 Heymut Omran A1 Jean-Francois Papon A1 Petr Pohunek A1 Beatrice Redfern A1 David Rigau A1 Bernhard Rindlisbacher A1 Francesca Santamaria A1 Amelia Shoemark A1 Deborah Snijders A1 Thomy Tonia A1 Andrea Titieni A1 Woolf T. Walker A1 Claudius Werner A1 Andrew Bush A1 Claudia E. Kuehni YR 2016 UL http://erj.ersjournals.com/content/early/2016/11/11/13993003.01090-2016.abstract AB 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.International ERS guidelines recommend a combination of tests to diagnose primary ciliary dyskinesia http://ow.ly/sJhH304InBN