7. Living with cystic fibrosis (CF)

Question 1

What is CF?

Answer 1

Common inherited AR disorder, particularly in those of north European descent

Variable severity - no current cure

Death usually due to respiratoy failure/cardiac complications

Question 2

What systems are affected in CF?

Answer 2

Multiple systems affected inc:

• respiratory
• digestive
• reproductive
• all affected by production of excessively thick, dehydrated secretions of mucus
• caused by failure of salt (specifically Cl-) and subsequently water transport by epithelial cells lining ducts

Question 3

Clinical features: respiratory

Answer 3

• frequent coughing
• chronic infections
• lung damage

due to:

• obstruction of bronchioles by mucus
• colonisation of bacteria, especially Ab resistant strains
• damage/fibrosis caused by inflam responses

Question 4

Clinical features: digestive

Answer 4

Failure to thrive
chronic malabsorption

due to:

• blockage of various intestinal & pancreatic ducts by mucus
• poor digestion of fats (mainly) & proteins

'Pancreatic' insufficiency (85% patients)
Chronic pancreatitis (& diabetes, 40% adults)
Liver disease (> or = 5%)

Question 5

Clinical features: reproductive

Answer 5

Infertility in males
Sub-fertility in females

due to:

• blockage of vas deferens in males, leading to fibrosis or usually aatrophy: congenital bilateral absence of vas deferens (CBAVD)
• cervical mucus in females acting as barrier to passage of sperm
• females may be anovulatory

Question 6

What type of diet is suited to CF patients?

Answer 6

High salt, high fat

Consumed with enzymes that facilitate fat digestion