Primary ciliary dyskinesia (Kartagener syndrome)
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A child with chronic sinusitis, recurrent otitis media, and bronchiectasis has dextrocardia on chest X-ray. Nasal nitric oxide is markedly low.
AR; genes encoding ciliary structure/function (~50 genes)
- DNAI1, DNAH5 most common
- Chronic oto-sino-pulmonary disease (ciliary dysfunction)
- Bronchiectasis
- Situs inversus in ~50% (Kartagener syndrome)
- Male infertility (immotile sperm)
- Neonatal respiratory distress
- Low nasal nitric oxide
- Ciliary biopsy with electron microscopy
- Genetic testing
- Daily airway clearance (chest physiotherapy, exercise) to mobilize secretions
- Prompt antibiotics for respiratory infections; routine surveillance cultures
- Aggressive sinus and ear care; monitor hearing for chronic otitis-related loss
- Routine immunizations; refer to specialized PCD/respiratory center