Symptoms, Diagnosis and Treatment

What are the Symptoms of Primary Ciliary Dyskinesia?

Symptoms typically include:

  • Respiratory distress as a newborn
  • Chronic cough
  • Pneumonia, bronchitis and other recurring infections
  • Excess mucus
  • Difficulty clearing mucus
  • Middle ear infections
  • Hearing loss
  • Severe sinus infections
  • Recurring cold symptoms, such as coughing and sneezing
  • Lack of response to common antibiotics like penicillin when you have infections

How is Primary Ciliary Dyskinesia Diagnosed?

  • PCD can be difficult to diagnose. Doctors may mistake PCD for "atypical" asthma or cystic fibrosis.
  • Doctors piece clues together based on the patient's history and symptoms.
  • Another clue in some patients is if they have a left-right mirroring of the heart  or abdominal organs. This is Kartagener Syndrome and is associated with PCD.
  • A lung biopsy is the final test for confirming a diagnosis.

How is Primary Ciliary Dyskinesia Treated?

  • There is currently no cure for PCD, but when PCD is diagnosed early enough, patients receiving proper treatment and monitoring can expect to live a full life.
  • Treatment focuses on preventing the progression of PCD and maintaining current lung function.
  • Doctors must monitor patients with PCD closely to prevent bronchiecstasis.
  • People with PCD must keep their airways clear of mucus. Therapists use daily airway clearance therapy for the lungs; routine washing and suctioning of sinus cavities and ear canals keep upper airways clear.
  • People with CPD may be prescribed antibiotics regularly because bacteria live and thrive in retained mucus.
  • Other medications prescribed may include steroids, bronchodilators, and mucolytics (mucus thinners).