Medical Care
There are no specific therapies, or prospective, randomized clinical trials on monitoring or treating primary ciliary dyskinesia (PCD). [23] General principles of airway clearance and antibiotic therapy used for cystic fibrosis (CF) or non-CF bronchiectasis should be followed. However, an ex-vivo attempt at gene editing by site specific recombination using transcription activator-like effector nucleases of DNAH11 was successful to cleave 80% of mutated sequence and replace it by wild type sequence in 50% of cells, [32] thus opening new avenues for treating PCD.
In patients with PCD, monitoring pulmonary function through spirometry, lung volume determination, and oxyhemoglobin saturation measurements allows objective assessment of progression of disease. Sputum culture and sensitivity tests are useful in managing antibiotic therapy in expectorating patients; bronchoscopy may be required in ascertaining lower respiratory tract pathogens from symptomatic nonexpectorating patients. Monitoring hearing is essential to avoid speech and educational problems. Treatment of the respiratory disease is directed at aggressive airway clearance and resolving respiratory or bacterial infections.
Chest physical therapy
Chest physical therapy (CPT) and aerosolized bronchodilators assist in airway clearance and postural drainage. CPT may be provided by hand percussion and postural drainage or by using a mechanical method such as high-frequency chest wall oscillation (ThAIRapy Vest), positive expiratory pressure valve, or Flutter.
Infections
Administer routine vaccination for pertussis, measles, Haemophilus influenzae type b, influenza, and pneumococcus.
Provide antibiotic therapy for otitis media, pneumonia, and sinusitis. In cases with recurrent respiratory infections, consider preventive long-term oral or nebulized antibiotics.
The double-blind randomized Better Experimental Screening and Treatment for Primary Ciliary Dyskinesia (BESTCILIA) trial demonstrated that 6 months of continuous maintenance therapy with azithromycin reduced exacerbations of primary ciliary dyskinesia by 50%. In addition, 60% of patients in the azithromycin group remained free of exacerbations, compared with 40% in the placebo group. [33]
Consultations
Collaboration between the primary care physician, pulmonologist, and otolaryngologist is essential to assure optimal care for affected patients. Consultation with a geneticist may help to provide genetic counseling to the family.
Activity
Activity is not restricted as long as the oxygen saturation is adequate.
Surgical Care
Surgery may be indicated when antibiotic therapy has not helped.
Tympanostomy with pressure-equalizing tube placement is used for chronic persistent otitis media.
Functional endoscopic sinus surgery and/or nasal polypectomy promote sinus drainage and improve nasal breathing in cases of persistent symptomatic sinusitis and nasal obstruction.
Lobectomy is used in rare cases with persistent localized bronchiectasis that is progressive in spite of medical treatment. It is also used in cases of recurrent infection in localized nonfunctioning tissue.
Prevention
Recommendations from the European Respiratory Society task force on diagnostic and treatment approaches in children with PCD include exclusion of this diagnosis in children found to have situs inversus totalis or any heterotaxic syndrome, in the siblings of probands, in babies with otherwise unexplained neonatal respiratory distress other features of PCD are present, in children with chronic productive cough, and in patients with bronchiectasis of unknown cause, particularly if other features of PCD are present. [34]
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Diagram showing the cross-section of normal cilia showing its ultrastructure. Important components are labeled.
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Ciliary ultrastructure, Left, Normal cilium from a healthy individual in which both inner and outer dynein arms can clearly identified. Right, the absence of outer and inner dynein arms in a patient with primary ciliary dyskinesia. Image courtesy of J. Carson, PhD, University of North Carolina.
