Primary ciliary dyskinesia diagnostic study of choice

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

A high level of suspicion is required to warrant early diagnosis and initiation of appropriate management before irreversible lung damage ensues. Diagnostic investigations are complex, requiring expensive arrangements and an experienced team of clinicians and scientists. People with persistent respiratory symptoms such as rhinitis, rhino-sinusitis, infertility, recurrent otitis media should seek medical care and undergo further testing. Nasal nitric oxide levels are low in PCD and should be performed as a screening test. Transmission electron microscopy to assess the ultrastructure of cilia is another important investigation that can confirm the diagnosis.

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.^[1]

• 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
• Direct video cinematography or oscillography to analyse ciliary beat waveform.
• Bronchial ciliary biopsy.^[2]
• Electron microscopy Tomography.
• Semen analysis.

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

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.

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