Primary ciliary dyskenesia (PCD), also known as Immotile Cilia Syndrome or Kartagener’s syndrome, is an inherited disorder caused by defects in the structure and function of the tiny hair-like structures called cilia. Cilia are required to move fluids and particles in various parts of the body, including the airways.
Defects in the cilia lining the airways result in an inability to expel foreign material and clear mucus. This leads to pulmonary complications, including frequent infections of the lungs, ears, throat and sinuses. These infections may be persistent or recurrent, and can lead to permanent and serious damage.
When these defects are accompanied by the combination of situs inversus, or the reversal of internal organs, it is known as Kartagener’s syndrome.
At present, there is no universal routine preventive genetic screening or cure for PCD.
There is general agreement on the clinical criteria used in diagnosing primary ciliary dyskinesia. However, only genetic testing or the identification of ciliary defects under a transmission electron microscope (requiring a biopsy) are specific and definitive.
The clinical diagnosis of primary ciliary dyskinesia must be highly individualized. Diagnosis of PCD requires the presence of one or a combination of the below signs and symptoms:
The ultimate treatment goal in patients with PCD is to slow the progression of the disease while maintaining airway health and treating lung and upper airway conditions. Current treatment includes the following:
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.
Standard, consensus-based treatment guidelines are under development through the U.S. Genetic Disorders of Mucociliary Clearance Consortium (GDMCC) and the European Task Force on PCD.