Table 2—

Antenatal, neonatal, childhood, adolescent and adult presentation of symptoms

Presentation of symptoms
AntenatalSitus inversus totalis or heterotaxy on antenatal ultrasound scanning; ∼25% of individuals with situs inversus totalis have PCD 44. The prevalence of PCD within the heterotaxic subclass is unknown 45
40–50% of PCD patients present with situs inversus totalis (Kartagener’s syndrome in PCD) 9
6% show heterotaxy (situs ambiguus) 46
Mild fetal cerebral ventriculomegaly 47
Neonatal>75% of full-term neonates with PCD exhibit neonatal respiratory distress requiring supplemental oxygen for days to weeks 8, 9
Continuous rhinorrhoea from the first day of life 48–50
Mirror-image organ arrangement and other forms of heterotaxy (see Antenatal rows above) 51
Hydrocephalus may occur in some individuals with PCD, and may reflect dysfunctional ependymal cilia 47, 52, 53
ChildhoodChronic productive or wet-sounding cough, associated or not with recurrent atelectasis or pneumonia
Atypical asthma that is nonresponsive to treatment, especially if a wet-sounding cough is present
Idiopathic bronchiectasis
Daily rhinitis without remission; nasal polyps are rare at this age 51
Severe chronic sinusitis in older children
Otitis media with effusion
Hearing loss
Adolescence and adult lifeSame as for childhood.
Bronchiectasis more evident in adulthood (83%) 9
Chronic mucopurulent sputum production is common 8, 9, 54
Digital clubbing may also be found.
Pulmonary function tests usually show a progressive obstructive or mixed pattern 8, 9.
Nasal polyposis and halitosis
Infertility in males (∼50%) due to immotility of spermatozoa 55
Ectopic pregnancy and subfertility in females 9, 56
  • PCD: primary ciliary dyskinesia