Primary Ciliary Dyskinesia

OVERVIEW

Primary ciliary dyskinesia (PCD) is a genetically inherited defect of motile cilia.

WHAT CAUSES IT?

Genetic mutations in various genes can be responsible for PCD. It is inherited as an autosomal recessive disorder.

WHY IS THIS A PROBLEM?

This defect in cilia will lead to improper ciliary function, which ultimately manifests as chronic oto-sino-pulmonary disease (the cilia are unable to clear mucus properly in the respiratory system), neonatal respiratory distress, and infertility disorders.

Cilia in the respiratory tract is responsible for mucus movement. When the cilia is dysfunctional and is unable to move/clear this mucus, the host becomes more susceptible to respiratory infections (source)
Cilia in the respiratory tract is responsible for mucus movement. When the cilia is dysfunctional and is unable to move/clear this mucus, the host becomes more susceptible to respiratory infections (source)
WHAT MAKES US SUSPECT IT?

Initial Presentation:

  • Recurrent respiratory infections: upper/lower respiratory infections are common given the pathophysiology of this disease.
  • Rhinosinusitis: year-around runny nose and nasal congestion may be noted in children. 
  • Otitis: defective ciliary function in the ear can result in chronic otitis/episodes of otitis media in patients.

 

 

Page Updated: 12.11.2016