International consensus guideline for reporting transmission electron microscopy results in the diagnosis of primary ciliary dyskinesia (BEAT PCD TEM Criteria).
- Resource Type
- Academic Journal
- Authors
- Shoemark A; Royal Brompton Hospital, London, UK.; School of Medicine, University of Dundee, Dundee, UK.; Boon M; Dept of Pediatrics, University Hospital Leuven, Leuven, Belgium.; Brochhausen C; Institute of Pathology, University Regensburg, Regensberg, Germany.; Bukowy-Bieryllo Z; Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.; De Santi MM; Dept of Pathology, University Hospital of Siena, Siena, Italy.; Goggin P; University Hospital Southampton NHS Foundation Trust, Southampton, UK.; Griffin P; Royal Brompton Hospital, London, UK.; Royal Childrens Hospital, Melbourne, Australia.; Hegele RG; Hospital for Sick Children-University of Toronto, Toronto, ON, Canada.; Hirst RA; Dept of Respiratory Sciences, University of Leicester, Leicester, UK.; Leigh MW; Dept of Pediatrics and Marsico Lung Institute, University of North Carolina, Chapel Hill, NC, USA.; Lupton A; Pathology Dept, Greater Glasgow and Clyde, Queen Elizabeth University Hospital, Glasgow, UK.; MacKenney K; NSW Health Pathology, Concord Repatriation General Hospital, Sydney, Australia.; Omran H; Dept of Pediatrics, University Hospital Muenster, Muenster, Germany.; Pache JC; University Hospital of Geneva, Geneva, Switzerland.; Pinto A; Instituto de Medicina Molecular, Lisbon, Portugal.; Reinholt FP; Oslo University Hospital, Oslo, Norway.; Schroeder J; Institute of Pathology, University Regensburg, Regensberg, Germany.; Yiallouros P; Medical School, University of Cyprus, Nicosia, Cyprus.; Escudier E; Sorbonne Université, Faculté de Médecine, INSERM UMR_S933, (APHP) Assistance Publique Hôpitaux de Paris and CHIC (Centre Hospitalier Intercommunal de Créteil), Paris, France.
- Source
- Publisher: European Respiratory Society Country of Publication: England NLM ID: 8803460 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 1399-3003 (Electronic) Linking ISSN: 09031936 NLM ISO Abbreviation: Eur Respir J Subsets: MEDLINE
- Subject
- Language
- English
Primary ciliary dyskinesia (PCD) is a heterogeneous genetic condition. European and North American diagnostic guidelines recommend transmission electron microscopy (TEM) as one of a combination of tests to confirm a diagnosis. However, there is no definition of what constitutes a defect or consensus on reporting terminology. The aim of this project was to provide an internationally agreed ultrastructural classification for PCD diagnosis by TEM.A consensus guideline was developed by PCD electron microscopy experts representing 18 centres in 14 countries. An initial meeting and discussion were followed by a Delphi consensus process. The agreed guideline was then tested, modified and retested through exchange of samples and electron micrographs between the 18 diagnostic centres.The final guideline a) provides agreed terminology and a definition of Class 1 defects which are diagnostic for PCD; b) identifies Class 2 defects which can indicate a diagnosis of PCD in combination with other supporting evidence; c) describes features which should be included in a ciliary ultrastructure report to assist multidisciplinary diagnosis of PCD; and d) defines adequacy of a diagnostic sample.This tested and externally validated statement provides a clear guideline for the diagnosis of PCD by TEM which can be used to standardise diagnosis internationally.
Competing Interests: Conflict of interest: A. Shoemark has nothing to disclose. Conflict of interest: M. Boon reports COST and STSM funding, during the conduct of the study; grants from Horizon 2020 MyCyFAPP, outside the submitted work. Conflict of interest: C. Brochhausen has nothing to disclose. Conflict of interest: Z. Bukowy-Bieryllo has nothing to disclose. Conflict of interest: M.M. De Santi has nothing to disclose. Conflict of interest: P. Goggin has nothing to disclose. Conflict of interest: P. Griffin has nothing to disclose. Conflict of interest: R.G. Hegele has nothing to disclose. Conflict of interest: R.A. Hirst has nothing to disclose. Conflict of interest: M.W. Leigh has nothing to disclose. Conflict of interest: A. Lupton has nothing to disclose. Conflict of interest: K. MacKenney has nothing to disclose. Conflict of interest: H. Omran has nothing to disclose. Conflict of interest: J-C. Pache has nothing to disclose. Conflict of interest: A. Pinto has nothing to disclose. Conflict of interest: F.P. Reinholt has nothing to disclose. Conflict of interest: J. Schroeder has nothing to disclose. Conflict of interest: P. Yiallouros has nothing to disclose. Conflict of interest: E. Escudier has nothing to disclose.
(Copyright ©ERS 2020.)