Abstract
Primary ciliary dyskinesia (PCD) is a genetically and clinically heterogeneous disease characterised by abnormal motile ciliary function.
There is no “gold standard” diagnostic test for PCD.
The European Respiratory Society (ERS) Task Force Guidelines for diagnosing PCD recommend that patients should be referred for diagnostic testing if they have several of the following features: persistent wet cough; situs anomalies; congenital cardiac defects; persistent rhinitis; chronic middle ear disease with or without hearing loss; or a history, in term infants, of neonatal upper and lower respiratory symptoms or neonatal intensive care admission.
The ERS Task Force recommends that patients should be investigated in a specialist PCD centre with access to a range of complementary tests: nasal nitric oxide, high-speed video microscopy analysis and transmission electron microscopy. Additional tests including immunofluorescence labelling of ciliary proteins and genetic testing may also help determine the diagnosis.
Educational aims This article is intended for primary and secondary care physicians interested in primary ciliary dyskinesia (PCD), i.e. those who identify patients for testing, and those involved in diagnosing and managing PCD patients. It aims:
to inform readers about the new European Respiratory Society Task Force Guidelines for diagnosing patients with PCD
to enable primary and secondary care physicians to: identify patients who need diagnostic testing; understand the diagnostic tests that their patients will undergo, the results of the tests and their limitations; and ensure that appropriate care is subsequently delivered.
Abstract
What primary and secondary care physicians should know about the diagnosis of primary ciliary dyskinesia http://ow.ly/obix30drts1
Footnotes
Support statement Research on primary ciliary dyskinesia (PCD) at the Institute of Social and Preventive Medicine, Bern, Switzerland, is supported by a grant from the Swiss National Foundation to C. Kuehni (SNF320030_173044), and grants from the Milena-Carvajal Pro Kartagener Foundation, and the Lung Leagues of Bern, St Gallen, Vaud, Ticino and Valais. The National PCD Centre in Southampton, UK, is commissioned and funded by NHS England. Research in Southampton is supported by the National Institute for Health Research (NIHR) Southampton Biomedical Research Centre, NIHR Wellcome Trust Clinical Research Facility, NIHR (RfPB PB-PG-1215-20014) and The AAIR Charity (registered number 1129698). Both authors participate in the network of COST Action BEAT-PCD: Better Evidence to Advance Therapeutic options for PCD (BM 1407).
Conflict of interest Disclosures can be found alongside this article at breathe.ersjournals.com
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