Cystic Fibrosis

Question 1

What is cystic fibrosis?

Answer 1

Genetic disorder leading to mutations in CFTR on chromosome 7

Question 2

What is the inheritance pattern?

Answer 2

Autosomal recessive

Question 3

What is CFTR?

Answer 3

Cystic fibrosis transmembrane conductance regulator

Question 4

What is the effect of CF?

Answer 4

Thickened secretions due to defective chloride and sodium secretion

Question 5

How is the diagnosis of CF made?

Answer 5

One of

• history of CF in sibling
• positive newborn screening test result
• characteristic phenotypic feature

AND

• increased sweat chloride concentration
• identification of 2 CF mutations
• demonstration of abnormal nasal epithelial ion transport

Question 6

What are the clinical features in newborn?

Answer 6

Failure to thrive
Meconium ileus
Rectal prolapse

Question 7

What are the clinical features in children and young adults?

Answer 7

Wheeze
Cough
Recurrent infections
Malabsorption

Question 8

What are common CF complications?

Answer 8

Respiratory infections
Low body weight - malabsorption + pancreatic insufficiency
Distal intestinal obstruction syndrome
CF related diabetes

Question 9

What is lifestyle advice for CF patients?

Answer 9

No smoking 
Avoid other CF sufferers
Avoid jacuzzis
Avoid those with colds 
Annual influenza jab

Question 10

How is CF managed?

Answer 10

Chest physio
Antibiotics for exacerbations
Mucolytics
Bronchodilators

Pancreatic enzyme replacement
Fat soluble vitamin supplements