Primary Ciliary Dyskinesia

Primary Ciliary Dyskinesia (PCD) is a genetic disorder that results from abnormalities with the body’s cilia.

This means that the microscopic tubular structures, called “cilia”, that line the larger airways within the lung do not move (ciliary immotility), move abnormally (ciliary dyskinesia), or are absent (aplasia). These small structures are responsible for helping to mobilize mucus from the lung as part of the immune system, and patients get recurrent infections when these structures do not work efficiently, usually leading to a secondary disorder called bronchiectasis. These cilia structures or components are also crucial structures in other parts of the body like nasal/sinus passageways, ear canals, fallopian tubules and sperm. Thus, patients tend to also experience recurrent sinus and ear infections, but other problems like fertility can be an issue.

PCD is a genetically inherited disease that affects women and men equally. Because the cilia during embryonic development are also dysfunctional, body asymmetry can occur randomly, which may result in certain organs of the body forming on the opposite side, such as the heart being on the right instead of the left side of the thoracic cavity and organs of the abdominal cavity also being reversed in position (called situs inversus). This occurrence in combination with bronchiectasis and chronic sinusitis is referred to as Kartagener’s syndrome. Although there is no cure or treatment for PCD, it is important to address some of the long-term health issues that can arise from PCD, such as lung health.

Bronchiectasis is often the most prevalent consequence from PCD. This bronchial airway problem can worsen with time leading to increased cough and mucus from the lung. Patients should be monitored closely for infections and start airway clearance measures to decrease the chance of getting infections. Airway clearance is a cornerstone of bronchiectasis management and can consist of various measures like chest percussion, postural drainage, “flutter” valves, certain nebulized inhaled medication, and vibrating vest systems.

Other conditions associated with PCD are rhinosinusitis and otitis, cardiac abnormalities, pyloric stenosis, epispadia, pectus excavatum, scoliosis, humoral immunodeficiency and infertility or decreased fertility.