Lecture 7 - CF: Personal Perspectives Flashcards Preview

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Flashcards in Lecture 7 - CF: Personal Perspectives Deck (20):
1

People from which backgrounds are most affected by CF?

North-European ethnicities

2

What is the aetiology of CF?

Genetic mutation
Inherited

3

What is the cure for CF?

No cure at present

4

Describe the phenotype of CF?

Can be quite variable, even if the mutation is the same.
Think about the differences between Sean and Steven

5

Which systems are affected in CF?

Respiratory
Digestive
Reproductive

6

What are the symptoms of CF?

Viscous mucous produced in various cells

7

What problems does the mucous cause?

• Traps bacteria → infections
• Frequent coughing
• Lung damage
• blockage of intestinal and pancreatic ducts by mucous

8

What gives rise to the mucous problem?

Ion channel mutation → failure of Cl- movement

9

Describe the effect of CF on the digestive system
What is this due to?

• 'Failure to thrive'
• Chronic malabsorption
Due to:
• blockage of intestinal and pancreatic ducts by mucous

10

What is Meconium ileus?

Intestinal obstruction in newborns

11

Describe the effect of the mutation on the reproductive system

• Infertility in males
• Sub-fertility in females
Due to:
• blockage of vas deferens → atrophy → bilateral loss of vas deferens
• cervical mucous blocks sperm in females

12

When was newborn screening for CF introduced?

1989

13

Describe the inheritance of CF

Autosomal recessive

14

What is the factor that will kill individuals with CF?

Build up of mucous

15

Describe Steven's family history

There was knowledge of childhood mortality several generations back in Switzerland.
The cause of these deaths was not known until Steven's diagnosis

16

Which treatments did Steven take?

Digestive tablets: pancreas tablets (to digest food)
Respiratory: no treatment until the age of 18 because of the sport he played
He didn't need the extensive physiotherapy that some need:
• percussion on the back
• nebuliser; inhalational therapy

17

What sort of diet is recommended for individuals with CF?

High fat, high salt diet

18

What do individuals with CF invariably need further down the track?

Lung transplant

19

At which point is it vital that individuals with CF get a lung transplant?

When lung function drops below 30%

20

How many different mutations are there that cause CF?
How many are screened for?

1600
Only about 17 screened for