Cystic Fibrosis

Question 1

What is cystic fibrosis

Answer 1

Autosomal recessive genetic condition on chromosome 7 which codes for chloride channel

Question 2

What are the 3 key consequences of CF

Answer 2

Blockage of digestive enzymes
Thick airway secretions
Congenital bilateral absence of vas deferens in males

Question 3

Why are there blockages of enzymes

Answer 3

Thick pancreatic and biliary secretions that cause blockage of ducts, resulting in lack of digestive enzymes such as pancreatic lipase

Question 4

What do the thick airway secretions cause

Answer 4

The low volume but thick airway secretions reduce airway clearance resulting in bacterial colonisation and susceptibility to infections

Question 5

Presentation of CF

Answer 5

Meconium ileus is first sign of CF as it is thick and sticky so obstructs the bowel. If not diagnosed by blood spot test then can lead to LRTIs, failure to thrive and pancreatitis

Question 6

Symptoms of CF

Answer 6

Chronic cough, thick sputum production, recurrent resp tract infections, loose greasy stools due to lack of fat digesting lipase enzymes, abdo pain, bloating, poor weight and height gain

Question 7

Signs of CF

Answer 7

Low weight or height on chart, nasal polyps, finger clubbing, crackles and wheeze on auscultation, abdominal distension

Question 8

Diagnosis of CF

Answer 8

Newborn blood spot test, sweat test is gold standard, genetic testing for CTFR gene can be confirmed during pregnancy

Question 9

Common colonisers for RTIs in CF

Answer 9

Staph aureus, pseudomonas, aeruginosa, H influenza, klebsiella pneumoniae, E coli, Burkhoderia cepacia

Question 10

Management of CF

Answer 10

Chest physio, exercise, high calorie diet, CREON tablets, prophylactic flucloxacillin, bronchodilators, vaccinations

Question 11

Screening in CF

Answer 11

Check ups around every 6 months, screening for diabetes, osteoporosis, Vit D deficiency and liver failure