Primary ciliary dyskinesia (PCD), also known as immotile cilia syndrome or Kartagener syndrome, is a rare genetic disorder that affects the structure and function of cilia in the body. Cilia are tiny, hair-like structures found on the surface of cells throughout the respiratory tract, reproductive system, and other organs.
In individuals with PCD, the cilia are unable to move properly, leading to a range of symptoms and complications. The impaired ciliary function affects the clearance of mucus, bacteria, and other foreign particles from the airways, resulting in recurrent respiratory infections, chronic cough, and congestion. Additionally, PCD can affect the motility of sperm, leading to infertility in males.
PCD is a genetically inherited condition, often caused by mutations in genes responsible for the structure and function of cilia. These mutations can disrupt the coordinated movement of cilia, impairing their ability to perform their essential roles in the body.
Diagnosing PCD can be challenging due to its varied presentation and overlap with other respiratory conditions. However, specialized tests such as nasal nitric oxide measurement, ciliary motion analysis, and genetic testing can aid in confirming the diagnosis.
Treatment for PCD primarily focuses on managing the symptoms and preventing complications. This may involve regular airway clearance techniques, such as chest physiotherapy and the use of inhaled medications to improve mucus clearance. Antibiotics may be prescribed to treat respiratory infections, while fertility options can be explored for individuals experiencing infertility.
While there is currently no cure for PCD, ongoing research aims to better understand the underlying mechanisms of the condition and develop targeted therapies. Genetic counseling and support groups can also provide valuable resources and emotional support for individuals and families affected by PCD.