Cystic Fibrosis

Question 1

What causes cystic fibrosis?

Answer 1

It is a genetic (recessive) disorder caused by mutation of the CFTR transmembrane protein. (often aa deletion)

Question 2

Explain the effects it has on the respiratory system.

Answer 2

Thick mucus is produced in the lungs. Bacterial infections are common, which cause inflammation, and lung damage. Damaged lungs are more vulnerable to infection, so it is a cycle.

Question 3

What does Ps aeruginosa do?

Answer 3

Produces biofilms that protect from wbcs and antibiotics, worsening the infection.

Question 4

What is the effect on the GIT?

Answer 4

Gets blocked by all the excess mucus

Question 5

What happens to the GIT of new-borns?

Answer 5

They do not pass meconium (debris) from the GIT, and it has to be removed surgically

Question 6

What pancreatic problems does it cause?

Answer 6

Blocked pancreatic ducts from the mucus leads to lack of digestive enzymes, and malnutrition. Lack of insulin leads to slight diabetes

Question 7

What effects are there on the liver?

Answer 7

Overflow of bile acids damage hepatocytes

Question 8

What effects on sex lives?

Answer 8

Women have fertility problems and men are infertile.

Question 9

When does diagnosis take place? Advantages?

Answer 9

Neonatal scan. Less lung damage, and improved growth. Less stress for parents, and fewer NHS costs.

Question 10

What is done to improve quality of life?

Answer 10

CF dieticians help to prevent malnutrition.
Physiotherapy includes
- Active Cycle of Breathing Techniques (ACBT)
- Oscillating and Positive Expulsion pressure
which both help remove mucus from the lungs