Diagnosis of Primary Ciliary Dyskinesia

Publication Date: June 1, 2018

Key Points

Key Points

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous, mainly autosomal recessive disorder characterized by motile cilia dysfunction.

Clinical manifestations of PCD include chronic upper and lower airway disease, left–right organ laterality defects, and infertility.

The diagnosis is often delayed, even in children who have characteristic clinical features of PCD, as clinical features of PCD can overlap with other conditions, such as cystic fibrosis (CF), immunodeficiency, pulmonary aspiration, asthma, and recurrent viral respiratory infections. However, PCD is not a diagnosis of exclusion.

There is no universally agreed-upon "gold standard" for diagnosis, and no single modality has sufficient diagnostic sensitivity and specificity when applied to the general population.

Recently, investigators identified four key clinical features characteristic of PCD:
  • Unexplained neonatal respiratory distress in a term infant
    • Year-round daily (wet) cough beginning before 6 months of age
    • Year-round daily nasal congestion beginning before 6 months of age
    • Any organ laterality defect



...igure 1. Suggested diagnostic algorithm for evalua...

...esenting with a strong clinical phenotype for PCD,...

...patients 5 years of age or older with a clinical...

...suggests NOT using ciliary beat p...

...gests NOT using ciliary beat freque...