Primary ciliary dyskinesia diagnostic study of choice

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Hafsa Ghaffar, M.B.B.S[2]

Diagnostic Study of Choice

Study of choice

There is no single diagnostic test for primary ciliary dyskinesia. A combination of the following techniques could contribute to the diagnosis of Primary ciliary dyskinesia.

• Nasal nitric oxide test (nNo)
• Assessment of ciliary ultrastructure by Transmission Electron Microscopy(TEM), Gold standard.
• Ciliary beat frequency CBF and Ciliary beat pattern CBP.
• Radio-aerosol MCC
• Electron microscopy Tomography.

Sequence of Diagnostic Studies

Electron microscopy should be performed when standard microscopy fails to establish the diagnosis. Repeat testing is often required as most tests are inconclusive.

Name of Diagnostic Criteria

Candidates presenting with any of the following should be tested to rule out PCD,

• Situs inversus with respiratory or nasal symptoms
• Neonates born with respiratory distress of unknown origin
• A Sibling with primary ciliary dyskinesia (PCD ) or a daily life-long wet cough
• If suspecting cystic fibrosis, also discuss testing for PCD especially if rhinitis, sinusitis, or glue ear symptoms are present.
• Bronchiectasis of unknown etiology.
• Serous otitis media in association with upper and lower respiratory disease.
• Cardiac disease associated with heterotaxy.