Cystic Fibrosis 1

Question 1

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

Answer 1

Cystic fibrosis

Question 2

What kind of inheritance does CF show?

Answer 2

Autosomal recessive

Question 3

What is the gene prevalence of CF?

Answer 3

1:25

Question 4

What is the disease prevalence of CF?

Answer 4

1:2500

Question 5

Where does the CF gene lie?

Answer 5

Long arm of chromosome 7

Question 6

What is the CF gene?

Answer 6

Cystic fibrosis transmembrane conductance regulator (CFTR)

Question 7

How many known mutations are there of the CF gene?

Answer 7

>2000

Question 8

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

Answer 8

About 30

Question 9

What can different mutations result in?

Answer 9

Different phenotypes of the disease

Question 10

How many classes of mutations are there?

Answer 10

6

Question 11

What is the most common CF gene mutation?

Answer 11

phe508del ((DF508)

Question 12

What is the class of mutation 1?

Answer 12

No synthesis

Question 13

What is the class of mutation 2?

Answer 13

Block in processing

Question 14

What is the class of mutation 3?

Answer 14

Block in regulation

Question 15

What is the class of mutation 4?

Answer 15

Altered conductance

Question 16

What is the class of mutation 5?

Answer 16

Reduced synthesis

Question 17

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

Answer 17

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

Question 18

What does a mutation of the CFTR gene cause?

Answer 18

Excessive, innate inflammation

Thick, sticky mucus

Question 19

What does collapsed cilia cause?

Answer 19

Traps organisms

Question 20

What are the presenting features of CF?

Answer 20

Recurrent chest infection

Failure to thrive in children

Nasal polyps and sinusitis

Male infertility

Question 21

What neonatal screening is done for CF?

Answer 21

New-born bloodspot day 5 (Guthrie test)

Question 22

What is the test called for screening CF?

Answer 22

Guthrie test

Question 23

What happens if the Guthrie test is positive?

Answer 23

Refered for clinical assessment and sweat test

Question 24

What is required to make the diagnosis of CF?

Answer 24

Clinical assessment

Sweat test

Repeat CF mutation analysis

Question 25

What are the possible diagnostic outcomes?

Answer 25

CF Not CF CF screen postive inconclusive diagnosis

Question 26

Why could a screen positive still be an inconclusive diagnosis?

Answer 26

Dependant on sweat test (normal)

Question 27

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

Answer 27

Antenatal screening

Question 28

What antenatal screening is done for CF?

Answer 28

Pre-implantation genetic diagnosis Chorionic villus sampling Amniocentesis

Question 29

What does the management of CF involve?

Answer 29

Multi-organ disease Specialist multi-disciplinary team Share care with local clinics Primary care

Question 30

What role does primary care have for CF?

Answer 30

Surveillance Early treatment of infection

Question 31

What are cardinal features?

Answer 31

Major clinical symptoms

Question 32

What are major clinical symptoms called?

Answer 32

Cardinal features

Question 33

What are the 2 cardinal features of CF?

Answer 33

Pancreatic insufficiency (85-90%) Recurrent bronchopulmonary infection

Question 34

What does pancreatic insuficiency cause?

Answer 34

Abnormal stools (pale or orange, very offensive and greasy) Failure to thrive

Question 35

What are some consequences of recurrent bronchopulmonary infections?

Answer 35

Pneumonitis Bronchiectasis Scarring Abscesses

Question 36

What does the treatment of pancreatic insuficiency involve?

Answer 36

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

Question 37

What is the cycle of CF lung disease?

Answer 37

1) Mucus obstruction inflammation 2) Infection 3) Increased inflammation 4) Fibrosis/scarring/bronchiectasis

Question 38

What is mucus obstruction helped by?

Answer 38

Airway clearance physiotherapy

Question 39

What is infection helped by?

Answer 39

Antibiotics

Question 40

What is inflammation helped by?

Answer 40

Azithromycin

Question 41

What are common organisms in infections with CF?

Answer 41

Staph aureus and haemophilus influenza in early years Pseudonomas aeruginosa in later years

Question 42

What are less common organisms with infections with CF?

Answer 42

Burkholderia cepacia Stenotrophomonas maltophilia MRSA Atypical mycobacterium Lung microbiome

Question 43

What can be done to try and prevent infections?

Answer 43

Eradication of early infections Reduce inflammation Suppress bacterial load of chronic infections Annual influenza vaccine Mucolytics Airway clearance Prophylactic against staph aureus

Question 44

What is mucolytics?

Answer 44

Medicine that makes mucus less thick

Question 45

What is medicine that makes mucus less thick called?

Answer 45

Mucolytics

Question 46

What medicines reduce inflammation?

Answer 46

Ibuprofen Azithromycin Prednisolone

Question 47

What treatment is currently being trialed?

Answer 47

CFTR modulator treatment which allows us to edit the gene

Question 48

What are some complications of CF?

Answer 48

Dysmotility Hepatopathy Upper airway popyps and sinusitis Osteopenia Arathropathy Heat exhaustion Bilateral absence of vas deferens Vaginal candidiasis

Question 49

What social and economical impacts does CF have on the patient and their family?

Answer 49

Barriers to making friends as seen as different (drugs, missing school, cough, different diet) Increased depression/anxiety Low adherence to time consuming treatments Siblings Increased cost to family (time of work, financial benefits)

Question 50

What are the cornerstones of CF treatment?

Answer 50

Proactive treatment of airway infection Good nutrition Active lifestyle

Question 51

How has the prognosis for CF changed in the last few decades?

Answer 51

Massively improved