Cystic Fibrosis

Question 1

What is cystic fibrosis

Answer 1

A genetic disease of an inherited defect in cell chloride channels
Produces excess sticky mucous

Question 2

Which organs are mainly affected by cystic fibrosis

Answer 2

Lungs and pancreas

Question 3

Is cystic fibrosis curable

Answer 3

Possibly by stem cell therapy

Question 4

What is the life expectancy of a patient with cystic fibrosis

Answer 4

Around 31

Question 5

What gene is affected by cystic fibrosis

Answer 5

CFTR gene - chromosome 7

Question 6

What is the most common cystic fibrosis mutation

Answer 6

F508del mutation

Question 7

What type of gene is the CFTR gene

Answer 7

Recessive

Question 8

How many people are carriers of cystic fibrosis

Answer 8

1 in 25

Question 9

How many births have cystic fibrosis to an extent

Answer 9

2500

Question 10

How does cystic fibrosis affect chloride ion channels

Answer 10

Can affect the way ion channel opens or the way in which it passes chloride and in some ways prevents the ion channel from functioning at all

Question 11

How can cystic fibrosis be diagnosed

Answer 11

Prenatal screening - amniocentesis
Perinatal testing - day 5
Sweat test greater salt content in CF patients
CTFR gene testing

Question 12

What are common CF signs in children

Answer 12

Pulmonary infection would lead to chronic bronchitis in the teenage years and eventually pneumonia
Malnutrition from the lack of fat absorption and the inability of the pancreas to produce enzymes can lead to diabetes as B cells are gradually destroyed
Atypical asthma
Oesophageal varices
Nasal polyps

Question 13

What are common CF symptoms in children

Answer 13

Troublesome cough
Repeated chest infections
Prolonged diarrhoea
Poor weight gain

Question 14

What are the consequences of CF

Answer 14

Liver dysfunction
Prone to osteoporosis
Diabetes symptoms
Reduced fertility - mainly male

Question 15

What are the different treatments for CF

Answer 15

Physiotherapy
Medication
Exercise
Transplantation

Question 16

Describe how physiotherapy can be used to treat CF

Answer 16

Used to help remove the mucous secretions from the lungs
Performed at home by parents
10-60 minutes daily needed

Question 17

What lung medications can be used to treat CF

Answer 17

Bronchodilators to open the airways
Antibiotics to reduce chest infection frequency
Steroids to reduce airway inflammation

Question 18

What digestive system medications can be used to treat CF

Answer 18

Pancreatic enzyme replacement

Nutritional supplements

Question 19

What other medications can be used to treat CF

Answer 19

CFTR modulators

Stem cell treatments

Question 20

Describe CFTR modulators

Answer 20

Contains 2 correctors and a potential or of the CFTR channel
Suitable for 508del patients - about 90%
eg - ivacaftor, tezacaftor and elexacaftor

Question 21

Describe CF stem cell therapy

Answer 21

Replace the bad gene with a new copy
If given to adult cells the therapy needs repeated every time the cells are replaces
If given to stem cells, then adult cells will all be made with the correct gene - cure

Question 22

Why is exercise important in CF treatment

Answer 22

Necessary to keep lung function optimal

Necessary to build physical bulk and strength

Question 23

When is transplantation used in CF treatment

Answer 23

Where lung disease has rendered the lungs no longer useable

Offers lungs which are unaffected by the CFTR gene