Cystic Fibrosis 

• Cystic Fibrosis Resource Guide 

1. What is the genetic inheritance pattern of cystic fibrosis?

a) X-linked dominant

b) Autosomal recessive

c) Autosomal dominant

d) X-linked recessive

2. What is the primary defect in cystic fibrosis that leads to thick, sticky mucus?

a) Excessive water transport across the mucosal membrane

b) Lack of water transport due to defective CFTR protein

c) Decreased mucus production

d) Increased ATP binding to the CFTR protein

3. Which of the following CFTR variant classes involves a lack of protein production?

a) Class I

b) Class II

c) Class III

d) Class V

4. What sweat chloride concentration is considered a positive diagnosis for cystic fibrosis?

a) < 30 mmol/L

b) 30–60 mmol/L

c) > 60 mmol/L

d) > 100 mmol/L

5. Which of the following is NOT a symptom associated with cystic fibrosis?

a) Dyspnea

b) Chest congestion

c) Increased appetite

d) Sore throat

6. What is the primary goal of therapy for pancreas-related symptoms in cystic fibrosis?

a) Increase mucus secretions

b) Decrease bacterial colonization

c) Optimize absorption of fats and nutrients

d) Increase lung function

7. Which of the following treatments is used for pancreatic insufficiency in cystic fibrosis?

a) Chest physiotherapy

b) Pancreatic enzyme replacement therapy

c) Inhaled tobramycin

d) Dornase-alpha

8. For a child with cystic fibrosis, pancreatic enzymes should be given with which type of food?

a) Dairy products

b) Salty foods

c) Acidic foods like applesauce

d) High-fiber foods

9. What is a common causative agent of pulmonary exacerbations in cystic fibrosis patients?

a) Streptococcus pneumoniae

b) Pseudomonas aeruginosa

c) Escherichia coli

d) Neisseria meningitidis

10. Which CFTR modulating therapy is used for patients over 2 months old with a gating variant?

a) Ivacaftor

b) Lumacaftor-Ivacaftor

c) Tezacaftor-Ivacaftor

d) Elexacaftor-Tezacaftor-Ivacaftor