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Primary ciliary dyskinesia

Key sources
The following summarized guidelines for the evaluation of primary ciliary dyskinesia are prepared by our editorial team based on guidelines from the American Thoracic Society (ATS 2018) and the European Respiratory Society (ERS 2017).
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Guidelines

1.Screening and diagnosis

Indications for testing: obtain testing for PCD in patients having several of the following features:
persistent wet cough
situs anomalies
congenital cardiac defects
persistent rhinitis
chronic middle ear disease with or without hearing loss
history of neonatal upper and lower respiratory symptoms or neonatal intensive care admittance in term infants
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2.Diagnostic investigations

Nasal nitric oxide: as per ATS 2018 guidelines, consider obtaining nasal nitric oxide testing over transmission electron microscopy and/or genetic testing for the diagnosis of PCD in cooperative patients ≥ 5 years of age with a clinical phenotype consistent with PCD and with cystic fibrosis excluded.
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More topics in this section

  • High-speed videomicroscopy analysis

  • Transmission electron microscopy

  • Immunofluorescence

  • Genetic testing