Table 1.

Symptoms and findings of PCD according to age group

AntenatalSitus inversus totalis or heterotaxy (situs ambiguus) on antenatal ultrasounds (40–50% of PCD patients have situs inversus totalis; 6% show heterotaxy)
Mild fetal cerebral ventriculomegaly
NeonatalNeonatal respiratory distress requiring supplemental oxygen (75% of cases)
Continuous rhinorrhoea from the first days of life
Mirror-image organ arrangement and other forms of heterotaxy
Hydrocephalus in some individuals (due to dysfunctional ependymal cilia)
ChildhoodChronic productive or wet-sounding cough
Recurrent atelectasis or pneumonia
Atypical asthma nonresponsive to treatment
Bronchiectasis
Chronic nasal purulent discharge
Episodic facial pain, anosmia (more evident in older children)
Otitis media with effusion
Hearing loss
Adolescents and adult lifeSame as for childhood
Chronic mucopurulent sputum production is common Bronchiectasis (more frequent in adulthood, 83% of cases)
Digital clubbing
Nasal obstruction and halitosis; nasal polyposis
Infertility in males (due to immotility of spermatozoa, 50% of cases)
Ectopic pregnancy and subfertility in females
  • Modified from ERS Task Force, Eur RespirJ 2009; 34: 1264–1276.