Primary Ciliary Dyskinesia

Primary Ciliary Dyskinesia (PCD), sometimes called Immotile Cilia Syndrome or Kartegener’s syndrome, is a rare lung disease that causes frequent lung, sinus and ear infections, chronic coughing and eventually, scarring of the lungs (bronchiectasis). 

PCD is caused by a defect in cilia, which are microscopic, hair-like structures on the surface of the cells of the respiratory tract.  Cilia are responsible for getting rid of mucous, bacteria and particles.  When the cilia are not constructed properly, mucous, bacteria and particles get stuck in the lungs, sinuses and inner ear.  This can result in a range of respiratory complications including frequent infections of the lungs, ears, throat and sinuses.  Malfunctioning cilia can also lead to abnormal rotation of the heart and internal organs as well as difficulty getting pregnant. 

C.S. Mott Children’s Hospital provides comprehensive diagnosis and management for children, adolescents and adults with PCD. Our team of pediatric pulmonologists includes experts in the definitive diagnosis of PCD, as well as expertise in individualized care for children with this rare disease.

Symptoms of Primary Ciliary Dyskinesia

  • Chronic coughing
  • Chronic congestion of the nose and sinuses
  • A history of breathing problems in the first month of life
  • Situs inversus (abnormal rotation of the heart and internal organs, present in approximately half of all patients diagnosed with PCD)

Diagnosing Primary Ciliary Dyskinesia

Symptoms of PCD can resemble those of other conditions ranging from allergies to other chronic respiratory disorders.  Accurate, definitive diagnosis is critical to allow for optimal treatment for children with PCD.  Our team of pulmonologists includes faculty who specialize in the diagnosis and treatment of this rare condition and are particularly well-qualified to ensure proper diagnosis.

Presence of some or all of the above symptoms may indicate a diagnosis of PCD, which is confirmed through diagnostic testing. The most important diagnostic tests are:

  • Nasal nitric oxide testing: Individuals who have PCD have very little nitric oxide (NO) gas in their nose and sinuses. Nitric oxide testing is a very sensitive way of diagnosing PCD.
  • Electron microscopy: By brushing the inside of a patient’s nose, we can collect cells and examine them under an electron microscope to see if the cilia are constructed properly.
  • Genetic testing: Ciliary structure defects are caused by a mutation in one of many genes responsible for the normal production of ciliary proteins. Genetic tests are becoming more and more affordable and can be an important way to diagnose PCD. 

Primary Ciliary Dyskinesia Treatment

Patients with PCD require daily breathing treatments and chest physiotherapy, in addition to often needing antibiotics for infection.  Unfortunately, there is no cure for PCD.  But, with regular doctors’ visits and lung function testing, we can stay on top of the disease and help patients live happy, active lives. 

Choosing a PCD treatment program

Since it is such a rare disease, there are very few hospitals in the country that have the tools and experience necessary to diagnose and treat PCD.   Led by the largest pediatric pulmonology team in Michigan, we collaborate with pediatric otolaryngologists and pediatric genetics specialists to provide multidisciplinary, coordinated care for children and families living with PCD.

In addition, we work with other PCD centers across the country to advance research and clinical trials that can lead to better care for children with PCD. 

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To schedule an appointment with our Primary Ciliary Dyskinesia team, please call us at 734-764-4123.