| Literature DB >> 32060067 |
Amelia Shoemark1,2, Mieke Boon3, Christoph Brochhausen4, Zuzanna Bukowy-Bieryllo5, Maria M De Santi6, Patricia Goggin7, Paul Griffin1,8, Richard G Hegele9, Robert A Hirst10, Margaret W Leigh11, Alison Lupton12, Karen MacKenney13, Heymut Omran14, Jean-Claude Pache15, Andreia Pinto16, Finn P Reinholt17, Josep Schroeder4, Panayotis Yiallouros18, Estelle Escudier19.
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.Entities:
Mesh:
Year: 2020 PMID: 32060067 DOI: 10.1183/13993003.00725-2019
Source DB: PubMed Journal: Eur Respir J ISSN: 0903-1936 Impact factor: 16.671