Primary Ciliary Dyskinesia

Question 1

What is Primary Ciliary Dyskinesia?

Answer 1

• PCD also known as Kartagner’s Syndrome.
• Autosomal Recessive Condition which affects the cilia
• Strong link between PCD and Situs Inversus

Question 2

What is the Pathophysiology of PCD?

Answer 2

• PCD is when there is dysfunction of the motile cilia notably in the respiratory tract
• Leading to a build-up of mucus in the lungs
• Causing a good site for infection
• leading to poor growth
• Bronchiectasis

Question 3

What is the link between PCD and infertility?

Answer 3

• It affects the cilia in the fallopian tubes
• It affects the flagella in the sperm

= INFERTILITY

Question 4

What is Kartagner’s Triad?

Answer 4

• Paranasal Sinusitis
• Bronchiectasis
• Situs Inversus

Question 5

What is Situs Inversus?

Answer 5

• Situs Inversus is a condition where all the internal organs are mirrored inside the body. E.g the heart is on the right and the liver on the left
  -patients are expected to live a normal life
• associated with Transposition of the great arteries

Question 6

What is Dextrocardia?

Answer 6

• When only the heart is reversed in Situs Inversus

Question 7

How can you make the diagnosis?

Answer 7

• Sample of the ciliated epithelium of the upper airway and examine the action of the cilia
• Sample is obtained via nasal brushing or bronchoscopy