Primary Ciliary Dyskinesia Treatment & Management

Updated: Oct 17, 2017
  • Author: Girish D Sharma, MD, FCCP, FAAP; Chief Editor: Denise Serebrisky, MD  more...
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Treatment

Medical Care

There are no specific therapies, or prospective, randomized clinical trials on monitoring or treating primary ciliary dyskinesia (PCD). [22] General principles of airway clearance, antibiotic therapy used for cystic fibrosis or No 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, [31] 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 (CPT)

    • Chest physical therapy 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.

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Surgical Care

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  • 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.

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Consultations

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  • 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.

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Activity

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  • Activity is not restricted as long as the oxygen saturation is adequate.

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