Cystic Fibrosis (Obstructive Airway Disease)

Question 1

What type of genetic condition is cystic fibrosis?

Answer 1

Autosomal recessive condition associated with mutations in the CFTR gene

Question 2

What is the most common mutation that results in cystic fibrosis?

Answer 2

DeltaF508

Question 3

What is the impact of this CFTR gene mutation on the body?

Answer 3

It causes the production of abnormal chloride channels resulting in thick and sticky mucous secretions

Question 4

What is the presentation of cystic fibrosis in neonates?

Answer 4

Meconium ileus and failure to thrive

Question 5

What is the general signs of cystic fibrosis in children and young adults?

Answer 5

Weight loss, clubbed fingers

Question 6

What is the respiratory signs of cystic fibrosis in children and young adults?

Answer 6

Cough, sputum, wheeze and recurrent infections

Question 7

What is the GI signs of cystic fibrosis in children and young adults?

Answer 7

Steatorrhoea, obstruction, gallstones

Question 8

What is the GUM signs of cystic fibrosis in children and young adults?

Answer 8

Male infertility

Question 9

What investigations can be done to confirm a diagnosis of cystic fibrosis?

Answer 9

Genetic screening and sweat test

Question 10

What sweat test results would be indicative of cystic fibrosis?

Answer 10

Chloride > 60mmol

Question 11

What is the general management of cystic fibrosis?

Answer 11

Chest physiotherapy (postural drainage), prophylactic antibiotics and pancreatic enzyme replacement