Primary ciliary dyskinesia

Question 1

What is primary ciliary dyskinesia?

Answer 1

An autosomal recessive condition affecting the cilia on the surface of cells.

Question 2

When is it more common?

Answer 2

Consanguinity where parents are related which increases the risk of a child having two copies of the same genetic mutation.

Question 3

What does PCD cause?

Answer 3

Dysfunction of the motile cilia in the resp tract which causes mucus build up in lungs, creating a favourable environment for infection.

Question 4

Differential?

Answer 4

Cystic fibrosis.

Question 5

What is there a higher risk of in affected females?

Answer 5

Ectopic pregnancy and reduced fertility due to affected cilia in fallopian tubes.

Question 6

What is there a risk of in affected males?

Answer 6

Reduced fertility due to affected flagella of sperm.

Question 7

What is Kartagener’s Triad?

Answer 7

Involves 3 features associated with PCD: paranasal sinusitis, bronchiectasis, and situs inversus.

Question 8

What is situs inversus?

Answer 8

A condition where the organs in the chest & abdomen are reversed so heart and stomach is on the R and liver is on the L.

20% of patients with situs inversus have primary ciliary dyskinesia; around 50% of patients with PCD have situs inversus.

Question 9

Presentation?

Answer 9

Neonatal respiratory distress, chronic wet cough, recurrent lower resp tract infections, chronic sinusitis, and recurrent otitis media.

Question 10

Diagnosis?

Answer 10

Family history & consanguinity in the parents; examination & imaging may diagnose situs inversus.

Ciliated epithelium sample is required to check cilia action under a microscope - obtained through nasal brushing or bronchoscopy.

Question 11

Management?

Answer 11

Regular chest physiotherapy & antibiotics eg azithromycin.