Primary ciliary dyskinesia pulmonary disease

Primary ciliary dyskinesia (PCD), includes patients with a spectrum of ciliary abnormalities, including ciliary akinesia, dyskinesia, and aplasia. It is characterized by chronic cough, bronchiectasis, chronic rhinosinusitis, and recurrent otitis media. The inheritance pattern of PCD is autosomal recessive in most cases. A number of different PCD-causing mutations have been described. Situs inversus is present in about ۵۰ percent of individuals with PCD. A history of neonatal respiratory distress, early onset and persistent productive cough, chronic nasal congestion and rhinorrhea, chronic otitis media, and/or a laterality defect (eg, situs inversus or ambiguous) should raise a strong clinical suspicion for PCD in the absence of cystic fibrosis or prematurity. Measuring the production of nasal nitric oxide (NO) is a useful method to screen patients age five years or older with a clinical suspicion of PCD. Semen analysis is an option in adult males. At present, none of these tests is diagnostic, so a confirmatory test is necessary. Definitive diagnosis is usually based on identification of ciliary abnormalities on high speed videomicroscopy analysis (HSVA) or transmission electron microscopy (TEM). Genetic testing has an increasing role in PCD diagnosis. Management of PCD include interventions to improve secretion clearance and reduce respiratory infections and daily chest physiotherapy and prompt treatment of respiratory infections. Regular use of nebulized (hypertonic) saline, twice daily before airway clearance techniques, and after inhaled bronchodilator is recommended. Azithromycin maintenance therapy is suggested for patients ۷ years of age and older with frequent exacerbations of bronchiectasis. Patients with PCD often have chronic otitis media with effusion. The placement of tympanostomy tubes is often appropriate in patients with hearing loss. Chronic rhinosinusitis with nasal polyposis is a cardinal feature of PCD, so standard practices is recommended for management. Age and season-appropriate vaccination against influenza and pneumococcus is advised. Male infertility is common due to ciliary dysmotility. Female patients with PCD may also have reduced fertility. In vitro fertilization techniques have been effective in this setting. Persons with PCD generally live an active life and have a normal lifespan. The rate of decline of lung function is much slower than with CF.