Primary ciliary dyskinesia (PCD) is a genetic disorder characterized by the impaired function of cilia, which are small hair-like structures found on the surface of cells in various organs of the body. These specialized cilia have essential roles in facilitating the movement of mucus, which helps to keep the respiratory tract, reproductive system, and other organs healthy. In PCD, the cilia are either absent, abnormal, or do not move properly, leading to a range of symptoms and complications.
PCD primarily affects the respiratory system, leading to chronic and recurrent respiratory infections, chronic cough, and congestion. Other common symptoms include chronic ear infections and hearing loss, as well as infertility in males due to defects in sperm motility. Additionally, some individuals may experience laterality defects, where the organs on one side of the body are reversed or misplaced.
The genetic mutations responsible for PCD affect the structures and proteins involved in cilia function and assembly. These mutations are usually inherited in an autosomal recessive manner, meaning that an affected individual must inherit a mutated copy of the gene from both parents.
Diagnosing PCD involves a combination of clinical evaluation and specialized tests, such as nasal nitric oxide measurement, ciliary motion analysis, and genetic testing. Although PCD is a lifelong condition, management primarily focuses on minimizing symptoms and preventing complications through regular airway clearance techniques, antibiotics to treat infections, and other supportive measures. In some cases, surgery may be necessary to alleviate specific complications or improve fertility.
