Cystic Fibrosis

Question 1

What is Cystic fibrosis

Answer 1

A hereditary disease that affects the lungs and digestive system. The body produces thick and sticky mucous that can clog the lungs and obstruct the pancreas.

Question 2

What is the life expectancy of someone with cystic fibrosis

Answer 2

They have shorter life spans. Average life expectancy in UK is 37.5

Question 3

What do people with cystic fibrosis typically die from

Answer 3

Respiratory failure (90%)

Question 4

What causes cystic fibrosis

Answer 4

Genetics (hereditary disease)

Question 5

What proportion of people are carriers of cystic fibrosis

Answer 5

1 in 25

Question 6

Is cystic fibrosis a recessive or dominant autosomal disorder?

Answer 6

Autosomal recessive disorder

Question 7

What gene mutation is responsible for cystic fibrosis

Answer 7

Mutation of the cystic fibrosis transmembrane conductance regulator gene (CFTR)

Question 8

What chromosome is the cystic fibrosis transmembrane conductance regulator gene (CFTR) located

Answer 8

Chromosome 7

Question 9

What effect does the mutation of cystic fibrosis transmembrane conductance regulator gene (CFTR) have on chloride and sodium

Answer 9

Reduced chloride secretion from epithelium

Reduced sodium absorption from the lumen

Question 10

What direct effects does the CFTR mutation have on the airways?

Answer 10

Dehydrates Mucous making it thick and sticky which can cause shearing

Question 11

How does the CFTR mutation effect neutrophils

Answer 11

Can get impaired bacterial killing via neutrophils as neutrophils need chloride (reduced secretion)

Question 12

How many mutations of CFTR cause cystic fibrosis

Answer 12

6

Question 13

What is the most common mutation called and how does it cause damage

Answer 13

Delta F508 (87%) - Causes a block in processing of protein

Question 14

What bacteria are commonly found in children with Cystic Fibrosis

Answer 14

Staph Aureus

Haemophilius influenza

Question 15

What bacteria can be found in adults with cystic fibrosis

Answer 15

Pseudomonas Aeroginosa

Question 16

Why is Pseudomonas Aeroginosa bad and what should be done if it is found

Answer 16

It reduces life expectancy and need to try and eradicate if it is found

Question 17

When do you test for cystic fibrosis (x3)

Answer 17

Prenatal
Neonatal
Post Natal

Question 18

What are the Pre natal tests for Cystic fibrosis

Answer 18

Chorionic Villous sampling (amniocentesis)

Testing placental sample

Question 19

What are the Neonatal tests for Cystic Fibrosis

Answer 19

New born blood spot on day 5 (Guthrie test)

Question 20

What does Guthrie test detect

Answer 20

It detects raised serum immunoreactive trypsinogen .

Question 21

What do you do if a Guthrie test result is positive

Answer 21

Refer for clinical assessment and sweat test

Question 22

What is the post natal test for Cystic Fibrosis

Answer 22

Sweat test

Question 23

What does the sweat test measure

Answer 23

Measures the concentration of chloride.

The concentration of chloride is elevated in cystic fibrosis

Question 24

What concentration of Chlorine from a sweat test suggests a high chance of having Cystic fibrosis

Answer 24

> 60 mmoles/L

Question 25

What systems can Cystic fibrosis impact?

Answer 25

All of them

Question 26

What are the two major features of Cystic Fibrosis

Answer 26

Pancreatic insufficiency

Infection and Bronchiectasis

Question 27

What does Pancreatic insufficiency cause?

Answer 27

Abnormal Stools (smelly, pale/orange)
Failure to thrive
Deficiencies in fat soluble vitamins
Diabetes

Question 28

What classes of Cystic fibrosis are completely pancreatic insufficient

Answer 28

1-3

Question 29

What classes of Cystic fibrosis are partly pancreatic insufficient

Answer 29

4-6

Question 30

Why are people with cystic fibrosis more susceptible to infection/bronchiectasis

Answer 30

Less mucociliary clearance
Increased bacterial adherence
Decreased endocytosis on bacteria

Question 31

How do you treat pancreatic insufficiency

Answer 31

Enteric coated enzyme pellets
High energy diet
Fat soluble vitamin and mineral supplements

Question 32

How to do treat the respiratory failure associated with cystic fibrosis

Answer 32

Clear mucous obstruction via, Physio, mucolytics and bronchodilators

Fight infection with antibiotics
Reduce inflammation with Azithromycin

Question 33

Is treatment of diabetes different between someone with cystic fibrosis and someone without?

Answer 33

Yes - The CF diabetic patients can not be put on a low fat/high fibre diet

Question 34

Why do people with cystic fibrosis get osteoporosis

Answer 34

Malnutrition
Steroid use
Vit D and K deficiency

Question 35

How do you predict if someone with cystic fibrosis has osteoporosis

Answer 35

FEV1
Age
Vit D 
if they have diabetes 
If they are frequently on steroids or antibiotics

Question 36

What is the treatment for osteoporosis in CF patients

Answer 36

Bone protection medication

Weight bearing exercise