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.
WHAT MAKES US SUSPECT IT?
- 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