Cystic Fibrosis

Question 1

What are the common and uncommon clinical features of CF in infants/young children?

Answer 1

Recurrent chest infection
Failure to thrive (1st year of life)
Rectal prolapse
Oedema
Hyperproteinaemia
Anaemia
Pseudo bartters syndrome

Question 2

What are the common and uncommon clinical features of older children/adults with CF?

Answer 2

Recurrent chest infection
Nasal polyps 
Sinusitis
Infertility in males
Pseudo bartters syndrome
Acute pancreatitis
Liver disease
Atypical mycobacteria

Question 3

What are the common and uncommon clinical features of CF in neonates?

Answer 3

Screening
Mec ileus
Gut atresia
Obstructive jaundice
Vitamin deficiency

Question 4

What are the common and uncommon clinical features of antenatal CF?

Answer 4

Chorionic villus testing
Echogenic bowel
Perforated meconium ileum

Question 5

What drug is used to treat CF and what does it target specifically?

Answer 5

Ivacaftor.

It targets the CFTR gene which is gating the movement of chloride ions into and out of the cell.

Question 6

What is the most common mutation in north European CF patients?

Answer 6

Phe508del

Question 7

What does CFTR stand for?

Answer 7

Cystic fibrosis transmembrane conductance receptor

Question 8

What are the functions of CFTR?

Answer 8

Regulates liquid volume on the epithelial surface:
 - reduces chloride efflux
 - increases sodium influx
Cillia collapse
Excessive inflammation

Question 9

What are 2 main cardinal features of CF?

Answer 9

Recurrent bronchopulmonary infection and Pancreatic insufficiency

Question 10

Describe the pancreatic insuffiency that 85-95% of CF patients suffer from.

Answer 10

Unable to digest fat:
Stool will be pale/orange and oily/greasy
Failure to thrive ( may be able to thrive better on breast milk). Results in defence of fat soluble vitamins and minerals.

Question 11

What treatment is given for pancreatic insuffiency?

Answer 11

High energy, high fat diet
Fat soluble vitamin supplements
Enteric coated enzyme pellets
H2 antagonist and / or proton pump inhibitor

Question 12

What recurrent bronmchopulmonary infections are common with CF?

Answer 12

Bronchiectasis, pneumonitis, scarring and abscesses.

Question 13

What is done for the management of recurrent bronchopulmonary infection in patients with CF?

Answer 13

Pre infection cautions:
Prevent cross contamination, airway clearance and adjuncts, mucolytics, prophylactic antibiotics, annual influenza vaccine.

Treatment for chronic infection:
Suppress bacterial load, treat infective exacerbation, reduce inflammation i.e. ibuprofen, azithromycin and prednisolone.

Question 14

What organisms are mostly responsible for chronic infection in patients with CF?

Answer 14

Staph. Aureus, haemophilia influenzae and pseudomonas aerguinosa

Question 15

State GI manifestations of CF.

Answer 15

Gastro oesophageal reflux
Meconium ileus
Distal intestinal obstruction 
Constipation/ rectal prolapse
CF is usually co existent with crohns or coeliac disease

Question 16

State other manifestations of CF.

Answer 16

Upper airway polyps and sinusitis
Diabetes
Bones i.e. osteopenia and anthropathy
Heat exhaustion
Bilateral absence of vas deferens (infertility in males)
Vaginal candidiasis (stress inconsistance)

Question 17

Name 4 airway clearance adjuncts.

Answer 17

Cornett / flutter
Mucolytics
Positive expiratory pressure (PEP) mask
High frequency chest wall oscillation

Question 18

regarding the heart, what can CF lead to?

Answer 18

cor pulmonale

Question 19

after a double lung transplant, what is gradual attrition due to? (reducing strength/ functionality)

Answer 19

bronchiolitis obliterans

Question 20

what benefits does Ivacaftor have?

Answer 20

improves lung function by 10%
reduces sweat chloride
weight gain
feel much better

Question 21

what are the indications for a lung transplant?

Answer 21

rapidly deteriorating lung function
FEV1 <30% predicted
life threatening exacerbations 
life expectancy 2 years
hypoxia / desaturations on exercise
hypercapnia

Question 22

stephotrophomonas maltophillia usually occurs after what infection?

Answer 22

pseudomonas aeruginosa

but it can occur as a first Gram negative infection

Question 23

what infections are acquired from other CF patients?

Answer 23

pseudomonas aeruginosa

burkholderia cepacia

Question 24

what infections is usually acquired from hospitals?

Answer 24

pseudomonas aeurginosa

Question 25

where does the CFTR gene lie?

Answer 25

on the long arm of chromosome 7

Question 26

what affects do the different classes of CFTR mutations?

Answer 26

on the membrane surface:

• little to no CFTR channels
• some CFTR channels
• gating CFTR channels (not allowing any Cl in)
• conductance (not allowing any Cl out)

Question 27

what is the Gurthrie test and when is it carried out?

Answer 27

new born bloodspot test which screens for CF on day 5

Question 28

some CF patients are deficient in what vitamin?

Answer 28

vitamin E

Question 29

what is the sweat chloride value which indicates CF?

Answer 29

equal to or greater than 60 mol/litre

Question 30

what is the sweat chloride value which makes CF unlikely?

Answer 30

equal to or greater than 29 mol/litre

39 is age >6 months

Question 31

what are the 3 main airway clearance techniques?

Answer 31

percussion and drainage
autogenic drainage
active cycle of breathing

Question 32

how do mucolytics work?

Answer 32

they increase the viscosity of mucous due to release of DNA from neutrophils

Question 33

what are the 2 main types of mucolytics?

Answer 33

DN-ase (alfadornase)

hypertonic saline

Question 34

what treatment can be given to CF males who are infertile?

Answer 34

intra-cytoplasmic sperm injection