Cystic Fibrosis

Question 1

define CF

Answer 1

autosomal recessive condition of the CFTR gene (chromosome 7), resulting in a faulty channel

Question 2

presentation of CF

Answer 2

• salty sweat
• thick mucus and frequent infections (meconium ileus)
• steatorrhoea (failure to secrete digestive enzymes) and fat replacement of islet cells
• congenital bilateral absence of vas deferens
• sludging up of hepatic ducts and portal hypertension

Question 3

diagnosis of CF

Answer 3

• genetic screening (newborn): chromosome 7
• sweat test: high chloride levels
• malnutrition

Question 4

management

Answer 4

• CREON (replace digestive enzymes)
• glucose monitoring (OGTT and CGMS)
• portal hypertension: TIPS
• diet management for intestinal blockage
• physiotherapy
• ivacaftor: improves CFTR channel (beware grapefruit)