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Primary Ciliary Dyskinesia

Genetic disorder of motile cilia causing chronic respiratory infections, situs anomalies and infertility.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Çocuk Sağlığı ve Hastalıkları department. Book Appointment →

What is Primary Ciliary Dyskinesia?

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder caused by mutations in genes encoding motile ciliary structural or assembly proteins (DNAH5, DNAI1, CCDC39, CCDC40 and others), inherited in an autosomal recessive pattern.

Impaired ciliary motility leads to defective mucociliary clearance, chronic upper and lower airway disease, fertility problems and laterality defects (situs inversus in approximately 50 percent, complex heterotaxy in 6 to 12 percent).

Clinical clues include unexplained neonatal respiratory distress in a term infant, year-round wet cough beginning in infancy, chronic rhinosinusitis from early life, recurrent otitis media with persistent effusion and bronchiectasis on imaging.

Diagnostic confirmation requires nasal nitric oxide measurement (typically very low), high-speed video microscopy of ciliary beat pattern, transmission electron microscopy of ciliary ultrastructure and genetic panel testing.

Management mirrors cystic fibrosis-style multidisciplinary care with daily airway clearance techniques, prompt and aggressive antibiotic treatment of exacerbations, surveillance cultures, vaccinations, sinus and ear care, and reproductive counseling.

Symptoms

Unexplained neonatal respiratory distress in term infant
Year-round wet productive cough from infancy
Chronic nasal congestion and rhinorrhea
Recurrent otitis media with persistent effusion
Recurrent or chronic sinusitis
Bronchiectasis on imaging
Situs inversus or heterotaxy (approximately half of cases)
Male infertility and reduced female fertility
Hearing loss from chronic middle ear disease

Risk Factors

Autosomal recessive inheritance with affected sibling
Consanguineous parents
Mutations in DNAH5, DNAI1, CCDC39, CCDC40 and related genes
Situs inversus or laterality defect on prenatal imaging

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Wet cough every day from infancy
  • Recurrent ear infections with hearing loss
  • Chronic sinus disease unresponsive to standard therapy
  • Bronchiectasis in a young patient
  • Family history of PCD or unexplained childhood lung disease

Treatment Methods

01
Daily airway clearance with chest physiotherapy or oscillatory devices
02
Hypertonic saline and bronchodilators when tolerated
03
Aggressive antibiotic treatment guided by sputum cultures
04
Annual influenza vaccination and pneumococcal vaccination
05
Topical nasal saline and intranasal corticosteroids
06
Tympanostomy tubes for persistent middle ear effusion
07
Surveillance pulmonary function and high-resolution CT
08
Genetic counseling and reproductive planning
09
Lung transplantation in end-stage disease

Which Department to Visit?

You can visit our Çocuk Sağlığı ve Hastalıkları department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

Learn About Çocuk Sağlığı ve Hastalıkları Department

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.