Diagnosis of primary ciliary dyskinesia: summary of the ERS Task Force report

摘要

h3Key points/h3pPrimary ciliary dyskinesia (PCD) is a genetically and clinically heterogeneous disease characterised by abnormal motile ciliary function./ppThere is no “gold standard” diagnostic test for PCD./ppThe 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./ppThe 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./ph3Educational aims/h3pThis article is intended for primary and secondary care physicians interested in primary ciliary dyskinesia (PCD), ii.e./i those who identify patients for testing, and those involved in diagnosing and managing PCD patients. It aims:/ppto inform readers about the new European Respiratory Society Task Force Guidelines for diagnosing patients with PCD/ppto 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./p