Most importantly, there is a strong clinical phenotype—or physical presentation—associated with PCD and diagnostic testing undertaken in the absence of this presentation is not recommended, as it has led to an unacceptably high rate of false positive diagnoses in PCD (people being told they have the disorder when they do not).
With rare exceptions, people with PCD exhibit the following symptoms:
In the first months of life (an important phenotypic feature is that the symptoms of PCD almost always present at birth or shortly after–this can help distinguish PCD from non-PCD):
- Respiratory problems in the newborn period despite full term birth
- Daily, year-round, wet cough starting in the first year of life (usually first months of life) that does not go away with change of seasons. It may improve with antibiotic treatment, but never fully resolves
- Daily, year-round nasal congestion starting in the first year of year of life (usually first months of life) that does not go away with change of seasons
- Any laterality/situs (organ placement) anomaly and/or organ development issue, plus the above
In older children and adults, all of the above remain constant, plus:
- Development of chronic otitis media with effusion and/or recurrent ear infections
- Development of chronic pansinusitis (all sinuses involved)
- Bronchiectasis on chest CT scan or x-ray
- Fertility issues
Expert Centers for PCD Diagnosis
Because PCD diagnosis relies on a high level of experience with the disorder and with diagnostic technologies, the PCD Foundation recommends that diagnosis be done–when at all possible–at a PCD Clinical and Research Network site. Learn more about our PCDF Clinical Centers Network.