Primary Ciliary Dyskinesia

  • What is Primary Ciliary Dyskinesia?

    Primary ciliary dyskinesia (PCD) — also known as Immotile Cilia Syndrome — is a rare inherited disorder caused by defects in the structure and function of cilia. Cilia are tiny hair-like structures, which are required to move fluids and particles in various parts of the body, including the airways.

    If there are defects in the cilia lining the airways, the body is unable to expel foreign material and clear mucus. This can lead to pulmonary complications, including frequent infections of the lungs, ears, throat and sinuses.

    People with PCD may have persistent or recurrent infections, which can significantly disrupt their quality of life and sometimes lead to permanent damage and life-threatening complications.

    About 50 percent of patients with PCD have cardiac situs inversus (heart appears in the right side of the chest instead of the left). When defects in the cilia are accompanied by the combination of situs inversus, or the reversal of other internal organs, the condition is known as Kartagener’s syndrome.

  • Signs and symptoms

    PCD is characterized by recurrent respiratory infections such as bronchitis and/or pneumonias. Other signs that may indicate PCD include:

    • Chronic cough
    • Respiratory distress as a newborn
    • Chronic wheezing
    • Excess mucus
    • Difficulty clearing mucus
    • Chronic nasal congestion
    • Recurrent middle ear infections
    • Recurrent cold symptoms
  • Testing and diagnosis

    Only genetic testing or the identification of ciliary defects under a transmission electron microscope (requiring a biopsy) are specific and definitive for a diagnosis of PCD. There is, however, general agreement on the clinical criteria used in diagnosing primary ciliary dyskinesia. Diagnosis of PCD requires the presence of one or a combination of the common signs and symptoms:

    Ear, sinus and lung disease:

    • Chronic cough
    • Respiratory distress in the newborn period
    • Chronic wheezing
    • Recurrent infections such as bronchitis and pneumonias
    • Excess mucus
    • Difficulty clearing mucus
    • Chronic nasal congestion
    • Recurrent middle ear infections
    • Recurrent cold symptoms

    Abnormality in chest and abdominal organ placement:

    • Situs inversus totalis, or mirror-image reversal of all internal organs, a condition in which all organs typically function normally while in their mirror image position
    • Situs ambiguous, or heterotaxy, a condition characterized by certain organs forming on the opposite side of the body

    Other potential indicators of PCD:

    • Digital clubbing, characterized by enlargement of the fingers and/or toes due to increased connective tissue around the nails
    • Specific ciliary ultrastructural defects identified by transmission electron microscopy (TEM). This "gold standard" diagnostic test for primary ciliary dyskinesia requires a biopsy of ciliated airway tissue usually taken by brush sample or scraping of either the nose or the trachea
    • Positive clinical genetic testing for PCD
    • Unusually low levels of nasal nitric oxide can also be an indicator of PCD
  • Treatment

    Currently, there is no cure for primary ciliary dyskinesia. The ultimate treatment goal in patients with PCD is to slow the progression of the disease. Doctors will also try to maintain airway health and treat lung and upper airway conditions. Current treatment includes:

    • Treating sinus and ear infections with saline nasal washes, anti-inflammatory nasal sprays and nasal/sinus surgery
    • Preventing and delaying progressive and/or advanced lung diseases with airway clearance, bronchodilators, mucolytics, antibiotics and steroids
    • Monitoring airway health with sputum cultures, bronchoscopy, imaging, and pulmonary function testing

    Children treated by the PCD Center at The Children’s Hospital of Philadelphia will benefit from a full range of pediatric specialists, including experts from our Division of Otolaryngology, also known as Ear, Nose and Throat (ENT), and Genetics.