Abstract
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.
Abstract
This tested and validated consensus statement provides clear terminology and defect definitions for the ultrastructural diagnosis of primary ciliary dyskinesia (PCD). The guideline will facilitate standardisation of PCD research and diagnosis. http://bit.ly/2RDkz7k
Footnotes
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Support statement: This project was conducted as part of BEAT-PCD, a network of multidisciplinary researchers and clinicians funded by EU COST Action (BM1407). Funding information for this article has been deposited with the Crossref Funder Registry.
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.
- Received April 10, 2019.
- Accepted January 24, 2020.
- Copyright ©ERS 2020