Primary Ciliary Dyskinesia

Not Verified
This information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes

Disease overview

inherited genetic defect in cilia structure; impairment of cilia affecting mainly airways, ears, reproductive organs

Common symptoms

Variable onset (neonatal to adulthood) of respiratory symptoms (coughingchokingrespiratory distress)hearing lossand reduced sperm motility. Recurrent sinusmiddle earand lung infections. 50% have situs inversus.

WHEN TO SUSPECT

HOW TO TEST

TREATMENT

  • Recommendation 1

    No pharmacologic treatments. Daily chest physiotherapy for airway clearance highly recommended. Low threshold for antibiotics in respiratory infections.

PRIMARY CARE

  • Recommendation 1

    2-4 pulmonology visits/year for lung infection surveillance screening, sputum culture, and spirometry. Regular otolaryngology care. Complete chest x-ray every 2-4 years. Encourage vaccination, especially influenza, pneumococcal, and RSV. Adult patients desiring children may need referral to a fertility specialist. Support group

  • Recommendation 2

    PCD Foundation

FURTHER SUPPORT

  • Recommendation 1

    The Primacy Ciliary Dyskenisa Foundation maintains a registry of medical centers with trained specialists. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.

CLINICAL TRIALS

  • Recommendation 1

    The Genetic Disorders of Mucociliary Clearance Consortium (GDMCC) can be contacted for PCD research in North America. Multiple US studies are recruiting.

Sources

No data available

Interested in learning more about Primary Ciliary Dyskinesia?

Follow to receive regular updates to the latest research development on this disease via email newsletter.