Cystic Fibrosis

Question 1

What is CFTR?

Answer 1

Cystic Fibrosis Transmembrane Conductance Regulator

Question 2

What is the prevalence of CF?

Answer 2

1:2500

Question 3

What patients are indicative of Ivacaftor?

Answer 3

G551D CFTR mutation

Question 4

How does CFTR disfunction cause blockage?

Answer 4

Lack of Cl- flow for cilia causes them to collapse
Build up of mucus
Excess inflammation

Question 5

How does CF most commonly present in adults?

Answer 5

Pulmonary Infections and pancreatic insufficiency

Question 6

What does CF with GI issues only suggest?

Answer 6

Non CFTR abnormality

Question 7

How does CF present as it worsens?

Answer 7

Bronchiectasis with purulent sputum
Recurrent LRTI

Respiratory Failure

Question 8

What are the indications for lung transplant?

Answer 8

Rapidly declining lung function
FEV1<30% expected
Life expectancy <2y
Hypercapnea
Newcastle Assessment

Question 9

Which bacteria are high risk in CF patients?

Answer 9

Pseudomonas aeruginosa (IV)
Burkholderia cepacia (IV)
Stenotrophomonas maltophilia (IV
Mycobacterium abcessus (TB drug resistant)

Question 10

First line treatment for CF patients with Pseudomonas aeruginosa?

Answer 10

Oral ciprofloxacin
nebulised colomycin

SEGREGATION

Question 11

Second line treatment of patients with Pseudomonas aeruginosa?

Answer 11

IV ceftiazidime

nebulised colomycin

Question 12

Why is Pseudomonas aeruginosa so dangerous?

Answer 12

Rapidly acquires resistance and forms biofilms

Reduces life expectancy by 10 years

Question 13

How is Burkholderia cepacia treated?

Answer 13

High dose IV AntiB

Question 14

How is Mycobacterium abscessus treated?

Answer 14

Azithromycin

Question 15

How are recurrent RTIs treated in CF patients?

Answer 15

Early high dose AntiB

Beta-lactam and aminoglycosides

Question 16

What are the contraindications for lung transplant?

Answer 16

Organ failure
Malignancy
Peripheral vascular disease
Active infection

Question 17

What are the cardinal signs of CF in children?

Answer 17

Abnormal stools (fatty, offensive, orange)
Failure to thrive (formula milk no use)
Recurrent Bronchopulmonary Infections

Question 18

What causes the cardinal signs in CF?

Answer 18

Pancreatic Insufficiency

Question 19

What are the common clinical CF presentations in adults?

Answer 19

Nasal Polyps
Recurrent Chest infections
Sinusitis
Male Infertility

Question 20

What is the sweat test? What is a ‘CF likely’ result?

Answer 20

Test for presence of Cl- in sweat

>60mmol/L

Question 21

What clearance techniques are used for CF patients

Answer 21

Percussion
Adjuncts (PEP)
Mucolytics (DN-ase, Hypertonic saline)

Question 22

What adjuncts are used to clear mucus in CF?

Answer 22

Positive expiratory pressure mask

Question 23

What Mucolytics are used to clear mucus in CF patients?

Answer 23

Hypertonic Saline

DN-ase

Question 24

How is CF diagnosed?

Answer 24

Sweat Test

Genetic screen

Question 25

What are the common presentations of CF in infants?

Answer 25

Recurrent Chest infections

Failure to thrive

Question 26

How does CF present in neonates?

Answer 26

Screening
Meconium Ileus

Gut atresia
Obstructive jaundice

Question 27

How does CF present antenatally?

Answer 27

CVS

Echogenic bowel

Question 28

How are neonates screened for CF?

Answer 28

Immuno-reactive trypsinogen

If positive - mutation analysis

Question 29

What sweat Cl- values are considered ‘unlikely?’

Answer 29

<=29 (under 6 months)

<=39 (over 6 months)

Question 30

How is pancreatic insufficiency treated?

Answer 30

Enzyme pellets
High energy diet
Fat soluble vit/min supplements
?PPI

Question 31

When does stenotrophomonas infection typically occur?

Answer 31

Post pseudomonas