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Respiratory - Primary Ciliary Dyskinesia (PCD) Diagnostic Pathway

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Primary Ciliary Dyskinesia (PCD) is characterized by symptoms dating from the first 6 months of life such as:

  • chronic productive cough
  • rhinorrhea
  • otorrhea
  • neonatal respiratory distress

In addtion:

  • 50% of children with PCD have situs inversus
  • 30-50% of children with situs inversus have PCD

Delayed diagnosis may result in increased morbidity, unnecessary investigation and health costs. The disorder is genetic requiring two abnormal alleles to cause symptoms. Many potential genes are involved, and gene testing will identify most but not all affected people. Where the clinical likelihood is high additional testing may be required beyond genetic testing.

The below pathway is according to Shapiro et al. The diagnosis of PCD can be complicated, requiring several modes of testing. Seek advice from the Paediatric Respiratory Department at Starship. As diagnosis can take some time, do not delay treatment and prevention of chest, ear and sinus complications while waiting for a definitive result.

PCF Flowchart

Regarding nasal nitric oxide (nNO) testing using tidal breathing technique used at Starship:

  • A  diagnostic cut-off of 150 ppb (37 nL/min at a flow of 250 mL/min) using the tidal breathing technique used at Starship.
  • For other centres employing the breath-hold technique a diagnostic cut-off of 300 ppb (77 nL/min) is suggested.
  • nNO may be performed reliably from 5 years of age (some younger children can perform the test but caution with results)
  • nNO has a reported sensitivity of 97.5% and specificity 96.4%
  • Inaccurate nNO results are generally falsely low rather than high
  • Testing must include quality control reporting as per other lung function tests
  • Because nNO values may be transiently decreased with acute viral respiratory infections or sinusitis, establishing a low nNO on two separate occasions is required.

Electron microscopy (EM) for cilia cross-sectional structure was previously recommended for diagnosis. It is now known that up to 30% of PCD cases can have normal ciliary ultrastructure. In addition, the test is painful and frequently needs to be repeated. EM is indicated where genetic testing is uncertain or negative but there is a high clinical likelihood.

Genetic testing has a sensitivity of 93.9% using a 32 gene panel. Gene testing or EM may become important beyond diagnosis in the future if specific treatments are developed for specific defects.

High speed video microscopy (HVSM) of cilia waveform is no longer recommended. Although the sensitivity and specificity were 97.3% (95% CI, 59.8-99.9%) and 96.5% (95% CI, 63.7-99.8%), respectively; the 95% CI of these results was extremely large. Cilia beat frequency (CBF) alone should not be employed as some disorders have a normal CBF with abnormal waveform.

References

  1. Shapiro AJ, Davis SD, Polineni D, Manion M, Rosenfeld M, Dell SD, et al.; American Thoracic Society Assembly on Pediatrics. Diagnosis of primary ciliary dyskinesia: an official American Thoracic Society clinical practice guideline. Am J Respir Crit Care Med 2018;197:e24-e39.
  2. Lucas JS, Barbato A, Collins SA, et al. European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia. European Respiratory Journal 2017 49: 1601090; DOI: 10.1183/13993003.01090-2016

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Document Control

  • Date last published: 21 February 2019
  • Document type: Clinical Guideline
  • Services responsible: Paediatric Respiratory
  • Owner: David McNamara
  • Editor: Greg Williams
  • Review frequency: 2 years

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