Cystic Fibrosis

Question 1

Cause?

Answer 1

• autosomal recessive gene
• mutation in chromosome 7
• causes defect in the Cl- secretion and increases sodium absortion across the epithelium of the airways predisposing the patients to pulmonary infections and bronhiectasis

Question 2

resp symptoms?

Answer 2

• cough
• wheeze
• recurrent infections

Question 3

GI symptoms?

Answer 3

• pancreatic insufficiency (diabetes, steatorrhea)
• distal intestinal obstruction syndrome
• gallstone
• cirrhosis

Question 4

investigations?

Answer 4

• sweat test

- genetic test

Question 5

what would the results be on sweat test if patient had CF?

Answer 5

chloride >60 mmol/L

Question 6

general management?

Answer 6

• should be mutidisciplinary

- patients should be seen every 3 months and have an annual review