13. Cystic Fibrosis

Question 1

What is cystic fibrosis?

Answer 1

AR

Abnormal apical membrane chloride channel which prevents luminal transport of chloride

Question 2

What are the causes of death in cystic fibrosis?

Answer 2

Respiratory failure
Sepsis
Bronchial haemorrhage

Question 3

Where is the CFTR gene located?

Answer 3

Long arm of chromosome 7

Question 4

How many classes of CF are there?

Answer 4

6

1-3 are severe, 4-6 more mild

Question 5

What is the most common CF mutation in Ireland?

Answer 5

Delta F508

Question 6

What class of mutation is delta F508?

Answer 6

2

Question 7

How is CF diagnosed?

Answer 7

Clinical features/CF history in sibling/positive newborn screening
and
positive sweat test/positive nasal PD/2 identifiable CF mutations

Question 8

How does CF present in infancy?

Answer 8

Failure to thrive

Intestinal obstruction

Question 9

How does CF present in childhood?

Answer 9

Failure to reach growth milestones
Recurrent chest infections
Abdominal cramps/diarrhoea

Question 10

What are the respiratory findings in CF?

Answer 10

Panbronchiectasis

Nasal polyps/sinusitis

Question 11

What are the GI findings in CF?

Answer 11

Pancreatic insufficiency/CF related diabetes
Liver disease
Intestinal obstruction

Question 12

What are the non-RT or GI symptoms of CF?

Answer 12

Renal disease
Congenital absence of vas deferens
Osteroporosis

Question 13

What are the symptoms of an exacerbation of CF?

Answer 13

Cough with increase in volume, purulence and viscidity of sputum
Increased wheeze or haemoptysis
Nasal/sinus symptoms
Onset from a few days to a few weeks

Question 14

Why does lack of pyrexia not rule out infection in CF?

Answer 14

Their body is so used to infection that it no longer produces the normal response

Question 15

What are the most common infectious organisms in CF?

Answer 15

Pseudomonas
Staph aureus and MRSA
H. influenza
B. cepacia
Stenotrophomas maltophilia
Atypical mycobacteria
Aspergillus and candida

Question 16

What complications are associated with b. cepacia?

Answer 16

Can cavitate through the chest wall after a transplant: significant contraindication to be colonised with it

Question 17

What is the defining feature of a stenotrophomas maltophilia infection?

Answer 17

Brick red sputum

Question 18

What complications are associated with CF?

Answer 18

Haemoptysis
Pneumothorax
ABPA
Atelectasis
Type 2 resp failure, pulmonary hypertension and CCF

Question 19

Why do CF patients have low BMIs?

Answer 19

Require lots of calories to breathe

Question 20

What are the signs of CF on inspection?

Answer 20

Low BMI and delayed puberty
Clubbed and cyanosed
Hyperinflated chest
Portacath and/or PEG tube
Hepatosplenomegaly

Question 21

What are the signs of CF on auscultation?

Answer 21

Creps everywhere

Expiratory wheeze

Question 22

What nebulised therapies are given in CF?

Answer 22

Anti-pseudomonal antibiotics
DNAse
7% saline helps to clear sputum
Bronchodilators as needed (salbutimol)

Question 23

What bronchodilators should be given if a CF patient has asthma concurrently?

Answer 23

Salmeterol or symbicort

Question 24

What anti-inflammatory is given in CF?

Answer 24

Azithromycin to reduce the frequency of exacerbations

Question 25

What treatment is given for ABPA?

Answer 25

Daily oral prednisone or monthly IV methylprenisolone and oral itraconazole

Question 26

What maintenance treatments are given to overcome malabsorption?

Answer 26

Pancreatic enzyme tablets: Creon vitamin A, D, E, K: aquadek Proton pump inhibitors PEG feeds/nutritional supplements

Question 27

What drug is used to prevent liver disease?

Answer 27

Ursofalk

Question 28

What potentiator is given in a G551D mutation?

Answer 28

Ivacaftor

Question 29

What corrects are given in a delta F508 mutation?

Answer 29

Orkambi and symkevi | Kaftrio

Question 30

What is the function of potentiators?

Answer 30

Increase ion flow by helping chloride channel come up to membrane and open more

Question 31

What is the function of correctors?

Answer 31

Help channel stay open longer

Question 32

What methods of airway clearance are used in exacerbations?

Answer 32

PEP mask Flutter valve Acapella biPAP

Question 33

What should be monitored at every CF appointment?

Answer 33

FEV1 BMI Sputum culture

Question 34

What annual measurements should be taken in CF?

Answer 34

``` Oral glucose tolerance Liver ultrasound Vit levels DEXA CXR or recent high res CT IgE for aspergillus FBC, U&E, LFTs, ca/phos, protein, albumin ```

Question 35

What are indications for lung transplant?

Answer 35

Low FEV1 >1 exacerbation in the last 3 months 24>BMI>17 Age <24

Question 36

What score is used to evaluate if a CF patient is a candidate for lung transplant?

Answer 36

CF-ABLE

Question 37

What scar is seen post lung transplant?

Answer 37

'Clamshell'

Question 38

What is bronchiectasis?

Answer 38

Localised, irreversible dilatation of part of the bronchial tree due to destruction of muscle and elastic tissue

Question 39

What does sputum normally look like in bronchiectasis?

Answer 39

Clear, frothy, white

Question 40

What is a typical history for a patient with bronchiectasis?

Answer 40

Productive cough Recurrent lower RTI Intermittent haemoptysis Over a period of years

Question 41

What complications are associated with bronchiectasis?

Answer 41

Respiratory failure Massive haemoptysis Amyloidosis

Question 42

What signs are seen in bronchiectasis?

Answer 42

Clubbing | Coarse creps +- wheeze

Question 43

What investigations should be done in bronchiectasis?

Answer 43

``` High res CT thorax IgG, IgA, IgE Mannin binding lectin a1AT levels Sputum culture and susceptibility Sweat testing and CF genotyping ```

Question 44

What is the maintenance treatment for bronchiectasis?

Answer 44

Chest physio Nebulised DNA and anti-pseudomonal antibiotics Alternate day azithromycin