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Primary ciliary dyskinesia

Guidelines

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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Screening and diagnosis

Indications for testing: as per ERS 2017 guidelines, 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.
A
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Primary ciliary dyskinesia rule (PICADAR)
Does the patient have a daily wet cough that started in early childhood?
Yes
No
Was the patient born preterm or full term?
Preterm
Term
Did the patient experience chest symptoms in the neonatal period (such as tachypnoea, cough, pneumonia)?
Yes
No
Was the patient admitted to a neonatal unit?
Yes
No
Does the patient have a situs abnormality (situs inversus or heterotaxy)?
Yes
No
Does the patient have a congenital heart defect?
Yes
No
Does the patient have persistent perennial rhinitis?
Yes
No
Does the patient experience chronic ear or hearing symptoms (such as glue ear, serous otitis media, hearing loss, ear perforation)?
Yes
No
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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.
C

More topics in this section

  • High-speed videomicroscopy analysis

  • Transmission electron microscopy

  • Immunofluorescence

  • Genetic testing