CF

Question 1

What is the inheritance of CF?

Answer 1

Autosomal recessive

Question 2

What is the pathophysiology of CF?

Answer 2

Mutation of CFTR gene, leading to impaired chloride transport and thick secretions

Question 3

What are the consequences of impaired chloride transport?

Answer 3

Thick pancreatic and biliary secretions –> blockage of ducts and lack of digestive enzymes
Low volume thick airway secretions –> reduced airway clearance –> bacterial consolidation and susceptibility to infection

Question 4

What is the earliest presentation of CF?

Answer 4

Meconium ileus

Question 5

What is the presentation of CF?

Answer 5

Meconium ileus 
Chronic cough, thick sputum
Recurrent LRTI 
Steatorrhoea
Abdo paina nd bloating 
Failure to thrive 
Pancreatitis 
Salt skin 
Male infertility 
Nasal polyps 
Clubbing

Question 6

What are the common bacteria causing LRTI in CF?

Answer 6

Staph aureus

Pseudomonas aeroginosa= difficult to treat and reduces life expectancy

Question 7

What are concerning LRTI bacteria in CF?

Answer 7

Burkholderia cepacia= majorly reduces life expectancy and lung function
Mycobacterium abscessus= contraindication for transplant

Question 8

What is the screening of CF?

Answer 8

Newborn blood spot test t 5 days for immunoreactive trypsinogen

Question 9

What is done if CF screening is +?

Answer 9

Sweat test for chloride concentration
>60= CF
<29 (<39 if <6 months)= CF unlikely
Mutation analysis

Question 10

What is the only direct treatment for CF?

Answer 10

Ivacaftor

• improves transport of chloride ions
• works in 5-10%

Question 11

What is the respiratory management of CF?

Answer 11

Chest physio 
Exercise 
Prophylactic flucloxacillin
Bronchodilators 
Neb DNase and saline 
Vaccinations

Question 12

What is the management of pseudomonas aeroginosa?

Answer 12

Ciprofloxacillin

Neb colomycin

Question 13

What is the pancreatic management of CF?

Answer 13

High calorie high fat diet
CREON tablets
Fat soluble vitamin and mineral supplements

Question 14

What are the surgical management options for CF?

Answer 14

Lung transplant +/- pancreatic/liver transplant

Question 15

What are the indications for lung transplant in CF?

Answer 15

Rapidly deteriorating lung function 
FEV1 <30% predicted 
Life threatening exacerbations 
Increasing weight loss 
Hypoxia at rest 
Hypercapnia 
Recurrent worsening sepsis

Question 16

What are the contraindications for transplant in CF?

Answer 16

Other organ failure 
Malignancy within 5 years 
Significant peripheral vascular disease
Drugs/nicotine/alcohol 
Active systemic infection 
M. abscessus

Question 17

What is the average life expectancy in CF?

Answer 17

47yo