2.12 Primary Ciliary Dyskinesia

Question 1

What is the other name for primary ciliary dyskinesia?

Answer 1

Kartagener’s syndrome

Question 2

What is the inheritance pattern of PCD / Kartageners?

Answer 2

autosomal recessive

Question 3

What increases risk of PCD / Kartagener’s in a population?

Answer 3

increased consanguinity

Question 4

Why is fertility affected in Kartagener’s?

Answer 4

• Fallopian tubes lack cilia
• sperm lack motile flagella

(reduced or absent fertility)

Question 5

What is Kartagener’s triad?

Answer 5

• paranasal sinusitis
• bronchiectasis
• situs inversus

Question 6

Situs inversus vs dextrocardia?

Answer 6

dextrocardia is just the heart is flipped

situs inversus is all internal visceral organs are flipped (no problem unless also TGA)

Question 7

How common is PCD in situs inversus and vice a versa?

Answer 7

25% of situs inversus people will have PCD

50% of PCD have situs inversus

Question 8

How does PCD typically present?

Answer 8

recurrent resp infections

Question 9

How is PCD / Kartageners diagnosed?

Answer 9

Sample of ciliated epithelium for upper airway (collected through nasal brushing or bronchoscopy)

Question 10

Management of PCD is similar to what other condition?

Answer 10

PCD management is similar to CF (physio, abx, high calorie diet)