Primary Ciliary Dyskinesia (PCD) is a relatively rare autosomal recessive disorder which presents with upper and lower respiratory tract infection, and affect the lungs, sinuses and ears.
The incidence is 1 in 15,000. However, the incidence can be as high as 1 in 2,500 in the Asian population and other areas where consanguinous marriages are prevalent.
Recent studies have begun to locate PCD genes scattered throughout the genome, making it a complex condition.
Impact of PCD
Affected individuals will experience lifelong chronic lung disorders and will typically need:
- Twice daily physiotherapy
- Targeted antibiotics either orally or intravenously
If PCD is not diagnosed, there is a risk of permanent lung damage.
Hearing and fertility problems are common.
How is PCD diagnosed?
Screening tests for PCD include nasal nitric oxide and in vivo tests of ciliary motility such as the saccharin test. Specific diagnosis requires examination of cilia by light and electron microscopy, with epithelial culture in doubtful cases.