Cystic Fibrosis 1 Flashcards Preview

Respiratory System > Cystic Fibrosis 1 > Flashcards

Flashcards in Cystic Fibrosis 1 Deck (51)
Loading flashcards...
1

What is the most common life shortening inherited disease in Northern Europeans?

Cystic fibrosis

2

What kind of inheritance does CF show?

Autosomal recessive

3

What is the gene prevalence of CF?

1:25

4

What is the disease prevalence of CF?

1:2500

5

Where does the CF gene lie?

Long arm of chromosome 7

6

What is the CF gene?

Cystic fibrosis transmembrane conductance regulator (CFTR)

7

How many known mutations are there of the CF gene?

>2000

8

How many mutations of the CF gene are CF disease associated?

About 30

9

What can different mutations result in?

Different phenotypes of the disease

10

How many classes of mutations are there?

6

11

What is the most common CF gene mutation?

phe508del ((DF508)

12

What is the class of mutation 1?

No synthesis

13

What is the class of mutation 2?

Block in processing

14

What is the class of mutation 3?

Block in regulation

15

What is the class of mutation 4?

Altered conductance

16

What is the class of mutation 5?

Reduced synthesis

17

What is the function of the cystic fibrosis transmembrane regulator (CFTR) gene?

Cilial collapse (regulates lipid volume on epithelial surface by reducing chloride and increasing sodium)

18

What does a mutation of the CFTR gene cause?

Excessive, innate inflammation

Thick, sticky mucus

19

What does collapsed cilia cause?

Traps organisms

20

What are the presenting features of CF?

Recurrent chest infection

Failure to thrive in children

Nasal polyps and sinusitis

Male infertility

21

What neonatal screening is done for CF?

New-born bloodspot day 5 (Guthrie test)

22

What is the test called for screening CF?

Guthrie test

23

What happens if the Guthrie test is positive?

Refered for clinical assessment and sweat test

24

What is required to make the diagnosis of CF?

Clinical assessment

Sweat test

Repeat CF mutation analysis

25

What are the possible diagnostic outcomes?

CF

Not CF

CF screen postive inconclusive diagnosis

26

Why could a screen positive still be an inconclusive diagnosis?

Dependant on sweat test (normal)

27

What is done following the identification of a CF patient who is going to become a parent?

Antenatal screening

28

What antenatal screening is done for CF?

Pre-implantation genetic diagnosis

Chorionic villus sampling

Amniocentesis

29

What does the management of CF involve?

Multi-organ disease

Specialist multi-disciplinary team

Share care with local clinics

Primary care

30

What role does primary care have for CF?

Surveillance

Early treatment of infection