Cystic Fibrosis

Question 1

Cause of cystic fibrosis

Answer 1

Genetic condition - mutation of the CFTR gene on chromosome 7

Question 2

The CF condition is

Answer 2

Autosomal recessive

Question 3

Presentation of CF

Answer 3

Recurrent chest infections
Wheezing
Crackles 
Shortness of breath
Bronchiectasis 
Haemoptysis
Jaundice
Failure to thrive
Foul porridge like offensive loss stools
Diabetes
Infertility in males
Liver failure
Pancreatic insufficiency
Nail clubbing

Question 4

Investigations of CF

Answer 4

Gurthrie test/hell prick test (genetic test)
Sweat (chloride) test
Newborn screening
Antenatal testing

Question 5

Chloride concentration <40mmol/L

Answer 5

Normal

Question 6

Chloride concentration 40-60mmol/L

Answer 6

Borderline or intermediate

Question 7

Chloride concentration >60mmol/L

Answer 7

Abnormal

Question 8

Management of CF

Answer 8

Nutritional supplements with enteric coated pancreatic enzyme supplements 
Chest physiotherapy
Sputum viscosity reduction
Genetic counselling 
Ivacaftor (drug)
Transplantation

Question 9

Respiratory failure cause of death in what percentage

Answer 9

90%

Question 10

CFTR gene codes for

Answer 10

Transmembrane conductance regulator

Question 11

Mutation in CFTR results in

Answer 11

Abnormal transport of chloride and sodium

Question 12

Result of abnormal transport of chloride and sodium

Answer 12

Reduced airway surface liquid
Thick sticky mucous
Shearing
Impaired bacterial killing via neutrophils

Question 13

Commonest mutation class

Answer 13

Class II - delta F508 (87%)

Question 14

Result of mutation in delta F508 on CFTR

Answer 14

Block in processing

Question 15

Chronic villous sampling

Answer 15

Removing and testing small sample of cells from placenta

Question 16

Amniocentesis

Answer 16

Removal and testing of amniotic fluid

Question 17

Antenatal screening methods

Answer 17

Pre-implantation eugenic diagnosis
Chronic villous sampling
Amniocentesis

Question 18

Neonatal screening

Answer 18

Newborn bloodspot day 5 Guthrie test

Question 19

Pancreatic insufficiency leads to

Answer 19

Abnormal stools - malabsorcbing
Failure to thrive
Diabetes

Question 20

Percentage of CFTR function required to have sufficient pancreatic function and be asymptomatic

Answer 20

5%

Question 21

Pancreatic function in classes 1-3

Answer 21

Insufficient

Question 22

Pancreatic function in classes 4-6

Answer 22

Sufficient

Question 23

Recurrent bronchopulmonary infections

Answer 23

Pneumonia
Bronchiectasis
Scarring
Abscesses

Question 24

Reason for pulmonary infection recurrence in CF

Answer 24

Decrease in mucociliary clearance
Increase in bacterial adherence
Decrease in endocytosis of bacteria

Question 25

Bronchiectasis

Answer 25

Where airways become thickened, dilated and stiff resulting in retaining mucous which becomes infected

Question 26

Progressive respiratory decline occurs due to

Answer 26

Progressive bronchiectasis Recurrent LRTIs Progressive airflow obstruction Respiratory failure

Question 27

Presentation in CT scan

Answer 27

Tramlines Signet rings Mucous plugging Consolidation

Question 28

Treatment of pancreatic insufficiency

Answer 28

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

Question 29

Treatment of mucus obstruction and inflammation

Answer 29

Airway clearance via physiotherapy Mucolytics Bronchodilators

Question 30

Treatment of chronic infection

Answer 30

Antibiotics (oral, IV or nebulised)

Question 31

Treatment of increased inflammation

Answer 31

Azithromycin

Question 32

Treatment of fibrosis/scarring/bronchiectasis

Answer 32

Supportive treatment and management of symptoms

Question 33

Aspects of CF to be aware of

Answer 33

Diabetes Osteoporosis (BMD) Pneumothorax Haemoptysis

Question 34

Type of diabetes in CF

Answer 34

Type 2

Question 35

Management of diabetes in CF

Answer 35

Joint diabetic/CF clinics | CF dietician

Question 36

Treatment of osteoporosis

Answer 36

Bone protection medication | Weight bearing exercise

Question 37

Reason for osteoporosis

Answer 37

``` Malnutrition and low BMI Steroids Delayed puberty Inflammatory cytokines in sepsis Vit D/K deficiency ```

Question 38

Reason for haemoptysis

Answer 38

Bronchial wall destruction

Question 39

Risk factors of haemoptysis

Answer 39

``` Severity of CF Exacerbations Fungal lung disease Liver disease Vit K deficiency Anticoagulants ```

Question 40

Massive haemoptysis

Answer 40

>240mls in 24 hours or 100mls/hour

Question 41

Management of massive haemoptysis

Answer 41

Admit Resuscitate Bronchial angiogram Embolisation

Question 42

Common microbiology in childhood

Answer 42

Staph aureus | Haemophilus influenzae

Question 43

Common microbiology in adulthood

Answer 43

Pseudomonas aeruginosa

Question 44

Less common microbiology

Answer 44

``` Burkholderia capacia Aspergillus Strenotrophomonas MRSA Atypical mycobacteria ```

Question 45

Pseudomonas aeruginosa

Answer 45

Colonisation increase with age | Reduces life expectancy and rapid decline lung function

Question 46

If not colonised by bacteria the median survival is around

Answer 46

40