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.
- There is no single universal gold-standard test: diagnosis integrates nasal nitric oxide, ciliary functional and ultrastructural studies, immunofluorescence and genetics in an accredited specialist pathway.
- Normal transmission electron microscopy does not exclude PCD because several genetic subtypes have apparently normal ultrastructure; genotype and function may resolve these cases.
- Management centres on regular airway clearance, exercise, surveillance cultures, prompt tailored treatment of exacerbations, vaccination and specialist bronchiectasis care rather than a curative respiratory medicine.
- Chronic hearing difficulty can affect language, education and work; audiology and ENT input should account for the possibility that ventilation tubes may produce prolonged discharge.
- Subfertility affects people of any sex through impaired sperm motility or fallopian-tube ciliary function, so reproductive goals and ectopic-pregnancy risk deserve timely, sensitive discussion.
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.
Increasing sputum, breathlessness, haemoptysis, fever or falling oxygen saturation may represent an exacerbation or complication and should be managed promptly using previous airway microbiology.
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.
- Let the specialist centre sequence nasal nitric oxide, functional microscopy, ultrastructure, immunofluorescence and genetics, repeating infection-affected samples before declaring the evaluation negative.