Cystic fibrosis

Question 1

What is the gene mutation in cystic fibrosis?

Answer 1

most common - homozygous for F508 deletion gene mutation (autosomal recessive)

Question 2

What is the protein deficiency in cystic fibrosis?

Answer 2

CFTR protein

Question 3

What does CFTR protein deficiency causes?

Answer 3

• problems in salt and water movement across cell membrane

- results in abnormally thick secretions in various organ systems

Question 4

What is the major cause of morbidity in cystic fibrosis?

Answer 4

lung involvement

- depleted perciliary layer in the lung leads to impaired mucociliary clearance and altered host defense

Question 5

What are the typical clinical features of cystic fibrosis?

Answer 5

• chronic sinus infections and nasal polyps
• recurrent respiratory infections and bronchiectasis
• exocrine pancreatic insufficiency

Question 6

What test should be performed if there is a clinical concern for cystic fibrosis?

Answer 6

sweat test

Question 7

What are the therapies for cystic fibrosis?

Answer 7

• nutrition - enzyme supplementation for exocrine pancreatic insufficiency, high caloric, high protein, high fat diet, daily salt supplement
• lung disease - airway clearance treatment (daily percussive therapy, recombinant human DNAse, etc); antibiotic therapy targeting common CF related bacteria; anti-inflammatory treatments