2.11 Cystic Fibrosis

Question 1

On what chromosome is the CFTR gene located?

Answer 1

chromosome 7

Question 2

What is the most common CF mutation?

Answer 2

delta-F508

Question 3

How man children have CF and how many are carriers?

Answer 3

1 in 2500 have CF

1 in 25 are carriers

Question 4

Inheritance pattern for CF?

Answer 4

Autosomal recessive

Question 5

3 consequences of CF?

Answer 5

thick pancreatic and biliary secretions

low volume thick airway secretions

congenital bilateral absence of vas deferens

Question 6

Who is screened for CF?

Answer 6

All newborns with the newborn bloodspot test

Question 7

In early life what might be the first sign of CF?

Answer 7

Meconium ileus - pathognomonic for CF

Failure to pass meconium within 24 hours, abdo distention, vomiting

Question 8

3 ways CF could present in later childhood?

Answer 8

Recurrent lower resp tract infections

Failure to thrive

Pacreatitis

Question 9

What is CF poo like?

Answer 9

loose and greasy “steatorrhoea” due to lack of lipase

Question 10

What is kissing a CF person like?

Answer 10

salty skin

Question 11

Signs of CF?

Answer 11

• poor performance of growth / weight scales
• nasal polyps
• finger clubbing
• crackles and wheeze on auscultation
• abdo distension

Question 12

7 causes of clubbing?

Answer 12

• CF
• hereditary
• cyanotic heart disease
• infective endocarditis
• tuberculosis
• IBD
• liver cirrhosis

Question 13

3 key methods of CF diagnosis?

Answer 13

• newborn blood spot testing
• sweat test is gold standard
• genetic testing for CFTR by amniocentesis or CVS, or blood test after birth

Question 14

What are 6 common colonisers of CF lungs?

Answer 14

• Staph aureus
• Pseudomonas aeruginosa
• H. influenza
• Klebsiella pneumonia
• E. coli
• Burkhoderia cepacia

Question 15

What abx do CF take prophylactically and why?

Answer 15

Flucloxacillin to prevent staph aureus colonisation

Question 16

Which CF coloniser is associated with increased mortality and morbidity?

Answer 16

Pseudomonas aeruginosa

Question 17

How is Pseudomonas aeruginosa infection treated in CF?

Answer 17

Nebulised Abx such as TOBRAMYCIN

also oral CIPROFLOXACIN

Question 18

What vaccinations do you give CF patients?

Answer 18

pneumococcal, influenza, varicella

Question 19

What tablets should CF patients take?

Answer 19

CREON tablets - replaces missing lipase

and prophylactic flucloxacillin

Question 20

6 thing for CF lungs?

Answer 20

• chest physio
• exercise
• treat chest infections
• bronchodilator eg salbutamol
• nebulised DNAase (Dornase alfa), break downs DNA in secretions to make it less viscous
• nebulised hypertonic saline

Question 21

What should CF patients include in their diet?

Answer 21

Lots of calories

cos of: malabsorption, increased resp effort, coughing, infections, physio

Question 22

What can be transplanted in CF?

Answer 22

liver and lung

Question 23

Median life expectancy for CF?

Answer 23

47 years

Question 24

What else do you monitor / screen CF patients for?

Answer 24

diabetes, osteoporosis, vit D deficiency, liver failure

Question 25

How many CF patients need insulin?

Answer 25

50% develop CF-related diabetes and need insulin