Primary Ciliary Dyskinesia (PCD) Overview

What is PCD?

• PCD is a rare, inherited genetic disorder affecting motile cilia.
• Cilia are tiny hairlike structures on cells in the body, essential for respiratory health.
• PCD leads to frequent respiratory infections and progressive lung, sinus, and ear disease.

Causes of PCD

• PCD is an inherited disorder; mutated genes from both parents affect cilia function.
• Cilia defects can include dyskinesia (impaired movement) or insufficient cilia.
• Ciliary dysfunction affects mucociliary clearance, leading to inflammation and infections.
• Organ placement abnormalities can occur due to faulty cilia.
  • Situs Solitus: Normal organ arrangement.
  • Situs Inversus Totalis: Mirror image organ arrangement.
  • Situs Ambiguus: Abnormal organ placement with potential heart defects.

Signs and Symptoms of PCD

• Early-onset symptoms usually appear in the first year of life.
• Symptoms include:
  • Neonatal respiratory distress
  • Daily nasal congestion and mucus-producing cough
  • Chronic ear infections and sinusitis
  • Organ placement abnormalities
  • Male infertility and reduced female fertility

Diagnosis of PCD

• Diagnosing PCD is complex, requiring multiple tests and expert observation.
• Common diagnostic methods include:
  • Clinical History: Early onset and persistent symptoms.
  • Ciliary Biopsy: Used to view cilia structure, but may not detect all defects.
  • Nasal Nitric Oxide Testing: Low levels indicate PCD but require specialized equipment.
  • Genetic Testing: Identifies 70-80% of cases.
  • High-speed Videomicroscopy (HSVM): Observes ciliary movement patterns, mainly in European centers.

Treatment of PCD

• No cure exists; treatments focus on managing symptoms and preventing lung damage.
• Recommendations are based on expert consensus and research networks.
• Prophylactic azithromycin has shown to reduce respiratory exacerbations.

Long-term Outlook

• Chronic inflammation leads to bronchiectasis, worsening infections, and possibly respiratory failure.
• Lung transplantation may be necessary in severe cases.
• The PCD Foundation Clinical Registry tracks long-term outcomes to improve care.

Additional Resources

• American Thoracic Society: www.thoracic.org
• PCD Foundation: www.pcdfoundation.org
• National Organization for Rare Diseases: www.rarediseases.org

R Action Steps:

• Contact the PCD Foundation for more information or a referral to a Clinical Center if PCD is suspected in oneself or a relative.

Note: This educational information should not replace medical advice from healthcare providers.