Synopsis
Identify the lifelong respiratory and laterality pattern of primary ciliary dyskinesia, refer for a multi-test specialist diagnosis, and coordinate airway, ear, fertility and transition care without falsely excluding disease after one normal test.
- PCD is a genetically heterogeneous disorder of motile cilia causing impaired mucociliary clearance, chronic upper and lower airway infection, and sometimes abnormal left-right organ arrangement.
- A daily wet cough from early infancy, persistent rhinitis, recurrent otitis media and unexplained neonatal respiratory distress in a term baby form a high-value diagnostic pattern.
- Situs inversus or heterotaxy is a clue rather than a requirement; many affected people have ordinary situs, and heterotaxy can include clinically important congenital heart disease.
Key red flags
Dextrocardia, complete situs inversus or heterotaxy strengthens suspicion. Heterotaxy can accompany complex cardiac or splenic abnormalities, so anatomy and previous surgical history must be defined accurately.
Investigation priorities
Provide a sensitive first-line physiological test in an appropriate specialist setting.
Management branches
A lifelong wet cough, neonatal respiratory history, laterality anomaly or combined ear, sinus and bronchiectatic disease suggests PCD.
- Construct a timeline from birth, including neonatal oxygen, year-round rhinitis and cough, ear disease, situs, congenital heart disease, fertility history and affected relatives.
- Exclude common mimics with immune testing, cystic fibrosis assessment and aspiration review as indicated, but send a convincing phenotype to the national diagnostic pathway rather than awaiting every local result.