Overview
Definition
An autosomal recessive genetic disorder causing abnormal ciliary structure and function, leading to impaired mucociliary clearance.
Epidemiology
Prevalence ~1 in 15,000 live births. Associated with Kartagener Syndrome (situs inversus, bronchiectasis, sinusitis).
Etiology & Risk Factors
- Mutations in genes encoding dynein arms or ciliary structure proteins
- Autosomal recessive inheritance
Clinical Symptoms
- Chronic productive cough and recurrent respiratory infections
- Chronic rhinosinusitis and otitis media
- Situs inversus (in 50% of cases - Kartagener)
- Male infertility (immotile sperm)
Clinical Approach
Diagnosis
- Nasal nitric oxide measurement (screen)
- High-speed video microscopy of ciliary beat
- Transmission electron microscopy of ciliary ultrastructure
- Genetic testing
Management
- Aggressive airway clearance techniques
- Prompt treatment of respiratory infections with antibiotics
- Annual audiology monitoring
Complications
- Severe bronchiectasis
- Hearing loss
- Subfertility / Infertility