Cystic Fibrosis

Question 1

What is the incidence of CF?

Answer 1

1 in 25 carry it
1 in 2500 are sufferers
(autosomal recessive)

Question 2

What does the CF mutation do?

Answer 2

It affects the quantity and function of CFTR channels (Cystic Fibrosis Transmembrane Conductance Regulator)

Question 3

What does the CFTR do/

Answer 3

Sits ont he surface of mucous producing cells and acts as an active transport channel for chloride ions. Essential to maintaining the salt/water balance on the surface.

Question 4

What is the consequence of abnormal CFTR proteins?

Answer 4

Cilia collapse & inflammation leading to bacterial colonisation, mucuous plugging and further airway damage with bronchiectasis.

Question 5

How are neonates screened for CF?

Answer 5

• Guthrie Test Day 5, bloodspot looking for high IRT (immunereactive trypsinogen)

Question 6

What happens if there’s a positive guthrie test?

Answer 6

The babies genes are analysed for CF genes

If 2 are found CFs suspected and they’re referred to a CF clinic for testing including a sweat test

Question 7

Whats the point of early CF screening?

Answer 7

Allows warning of infections and an improved nutrional status for the sufferer.

Question 8

What are the common manifestations of CF?

Answer 8

Recurrent Bronchopulmonary Infections
Bronchiectasis & progressive airflow obstruction
Pancreatic Insufficiency
Fertility Issues
GI motility, hepatopathy, diabetes, upper airway sinusitis, oseopenia/arthropathy vaginal candiasis.

Question 9

How does Cf cause a progressive airflow obstruction?

Answer 9

Chronic excess sputum production, bronchiectasis and recurrent infections fills the airway with mucous, inflammatory debris/swelling and scarring.

Question 10

What can occur as a result of the progressive airflow obstruction?

Answer 10

Progressive Dyspnoea with eventual respiratory failure

Haemoptysis and Pneumothorax

Question 11

How do we treat the progressive airflow obstruction caused by CF?

Answer 11

We can delay it with bronchodilators and oxygen.
Bilateral Lung Transplants.
Mucolytics and airway clearance techniques can make it easier to clear the mucous.

Question 12

What are some airway clearance techniques?

Answer 12

Percussion & Drainage
Active cycle of breathing
Autogenic drainage

Question 13

How do we treat/prevent recurrent chest infections?

Answer 13

Co-horting and prophylactic antibiotics when very young.
Yearly Flu vaccinations.
Later treat infective exacerbations with large dose multi IV antibiotics (a B-lactam & aminoglycoside)

Question 14

What happens to a CF sufferer with pancreatic insufficiency?

Answer 14

Abnormal pale or orange stools, very offensive and oily.

Failure to thrive, possibly with a fat soluble vitamin deficiency.

Question 15

How do we treat a pancreatic insufficiency?

Answer 15

Enteric Coated Enzyme Pellets
High Energy Diet (Not low Fat)
Fat soluble vitamin & mineral supplements.

Question 16

How does CF cause male infertility?

Answer 16

~95% of CF men have bilateral abscence/blockage of vas deferens.
3 attempts at fertility treatment are given on the NHS.

Question 17

What treatments are there to resolve CF?

Answer 17

Bilateral Lung Transplant

Ivacaftor (CFTR potentiator)

Question 18

When would we consider a double lung transplant?

Answer 18

When:

• <30% of predicted FEV1
• Weight Loss
• Hypoxia + Hypercapnia
• Recurrent Worsening Sepsis
• Worsening Quality of Life

Question 19

What are the absolute no-gos for a lung transplant?

Answer 19

Other organ failure
Malignancy within 5 years
Peripheral Vascular Disease
Substance dependancy
Active Systemic Infection

Question 20

How does Ivacaftor treat CF?

Answer 20

Its a CFTR potentiator. It binds to CFTR and improves Cl- transport.
Only works on patients with a specific CF mutation (5-10% of them).
Reduces sweat chloride level, feels much better, lung function improves and gains weight.
(180,000 pound pa)