Primary Ciliary Dyskinesia

Primary Ciliary Dyskinesia, Immotile Cilia Syndrome and Kartagener’s Syndrome form of a group of inherited disorders characterized by defects in the structure and function of the tiny hair-like structures called cilia cells throughout the body. Progressive respiratory disease is the major health consequence of Primary Ciliary Dyskinesia (PCD), but other problems may include male infertility, hearing or sight loss, heart disease, kidney dysfunction and, less commonly, central nervous system problems. Many variations in these disorders are seen.

Until recently, PCD was thought to affect approximately one person in 15,000. New diagnostic tools, including tracheal biopsy examination with transmission electron microscopy (TME) and modern genetic tests have resulted in sharp increases in positive diagnoses, leading some authorities to suspect that as many as one person in 1,500 may have an inherited ciliary disorder.

In PCD, airway ciliary dysfunction results in diminished secretion clearance in upper and lower airways. Although other important clearance mechanisms, including cough, may function normally, residual secretions trigger chronic sinusitis, otitis media, nasal polyposis and chronic, progressive respiratory illness.

Over time, following a pattern similar to that seen in cystic fibrosis (CF), the accumulation of mucus in PCD lungs promotes bacterial colonization, setting in motion a vicious cycle of complications including:

  • Declining pulmonary function
  • Recurrent pneumonia
  • Antibiotic-resistance
  • Mucus plugging
  • Lung damage
  • Bronchiectasis
  • Respiratory failure
  • Referral for lung transplantation

PCD management closely resembles the model for CF care. Therapeutic goals are to control symptoms, maintain lung health and prevent or delay the onset of bronchiectasis. Standard therapy includes prompt treatment of recurrences, antibiotics to suppress infection, reduction of inflammation and, most importantly, secretion clearance interventions. Since patients with PCD are unable to clear pulmonary secretions naturally, they are dependent upon assisted daily airway clearance therapy. Many physicians prescribe airway clearance therapy at the time of diagnosis.

Vest therapy is recognized as a standard of ACT care for patients with lung disease caused by impaired secretion clearance. Currently, vest therapy is used by more than 70% of American CF patients and by a growing number of those with PCD. Vest therapy is a logical airway clearance therapy choice for PCD and CF because it accelerates the rate of secretion clearance from both peripheral and central airways. By reducing exposure to excess, bacteria-laden mucus, respiratory health is sustained and disease progression is moderated.