What is Primary Ciliary Dyskinesia?
Primary ciliary dyskinesia (PCD) is a rare inherited disorder caused by defects in the structure and/or 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 half of patients with PCD have laterality defects (e.g. situs inversus totalis where the heart appears on the right side of the chest instead of the left). When defects in the cilia are accompanied by the triad of situs inversus, chronic sinusitis, and bronchiectasis (dilation of the small airways) , the condition is known as Kartagener’s syndrome.
Signs and symptoms of PCD
PCD is characterized by recurrent respiratory infections such as bronchitis and/or pneumonia. 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 of PCD
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 for Primary Ciliary Dyskinesia
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 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.
Resources to help
Primary Ciliary Dyskinesia Resources
Primary Ciliary Dyskinesia Center Resources
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