CF vignette

Question 1

Describe the genetics involved with CF? Inheritance, genes, etc

Answer 1

Autosomal Recessive.

CFTR protein. Most common is F508del

Question 2

What are the typical clinical features of CF?

Answer 2

1. Chronic sinus infections
2. Recurrent respiratory infections
3. Exocrine pancreatic insufficiency.

Question 3

How do you treat CF?

Answer 3

1. Nutrition- High Fat/Protein diet. Daily salt suplement
2. Lung Disease- Percuss, inhalers, Antibiotics, anti-inflammatory
3. CFTR modulators- drugs end in -CaFToR

Question 4

What value on the sweat test indicates elevated cl?

Answer 4

Greater than 60

Question 5

What are the symptoms of CF?

Answer 5

Gain weight, nasal polyps, clubbing and bronchiectasis