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| Disease found: | Primary Ciliary Dyskinesia |
| Current as of: | October 8, 2024 |
| Disease Overview: | inherited genetic defect in cilia structure; impairment of cilia affecting mainly airways, ears, reproductive organs [more info] |
| Signs and Symptoms: | Variable onset (neonatal to adulthood) of respiratory symptoms (coughing, choking, respiratory distress), hearing loss, and reduced sperm motility. Recurrent sinus, middle ear, and lung infections. 50% have situs inversus. [more info] |
| Diagnosis: | Ciliary biopsy (nose/trachea scraping) with electron microscopy and/or genetic panel |
| Treatment: | No pharmacologic treatments. Daily chest physiotherapy for airway clearance highly recommended. Low threshold for antibiotics in respiratory infections. [more info] |
| Clinical Management: | 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: PCD Foundation |
| Referral: | 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: | The Genetic Disorders of Mucociliary Clearance Consortium (GDMCC) can be contacted for PCD research in North America. Multiple US studies are recruiting. |