CF

Question 1

Causes

Answer 1

Mutation to CFTR protein

• involved in transport of cl into cells
• cl environment controls the action of the cilia
• cl build-up outside the cell
• cilia lose their function due to environment
• causes build up of mucus containg pathogens
• inflammation

Question 2

Investigation

Answer 2

screening 
-4 common mutation in UK
-5 in scotland
bloodspot test at day 5: 
-immunoreactive trypsogen 
sweat test; 
-no overlap with normal 

Phe508 deletion is the most common mutation found in europeans

Question 3

Signs

Answer 3

Antenatal: 
-echogenic bowel- brighter coloured bowel in ultrasound 
neonatal:
mec ileus: sticky bowel 
Young children:
-recurrent chest infection 
-inability to thrive 
Older children and adults:
-recurrent chest infection

Question 4

Symptoms

Answer 4

1-pancreatic dysfunction:
-fat cannot be digested so faeces will appear very white/orange and will float
-lipid soluble vitamins which cannot be digested
2- recurrent chest infection:
-pneumonitis
-abcess
-bronchiectitis
-scarring
ALSO :
-gastric dysmotility- Crohn’s disease, caeliac disease
-abnormal bone profile
-genital infection:
absent vas deferens in males- infertility
Vaginal candidiasis in females- can lead to infertility if poor nutritional values
-heat exhaustion : build up of chlorine containing sweat
-diabetes
-hepatopathy
-sinusitis and nasal polyps

Question 5

common infection in:

• children
• adults

Answer 5

children:
-staph aureus
-hemophilius influenzae
Adults:
-mycobacterium abscessus
-pseudomans aeruginosa
-bulkholderia cepacia

Question 6

Treatment

Answer 6

• enteric coated enzymes
• lipid soluble vitamins
• antacids and H+ inhibitors
• high fat diet

In adults:

• FEV< 30
• 2 year survival rate
• hypotension at rest
• hypercapnia- increased CO2 in the blood
• significant weight loss
• REFERRED FOR TRANSPLANT

New therapies:
-Ivacaftor- binds to CFTR and improves transport of Cl
-Antibiotics: beta lactams and aminoglucosides
oral in children, IV in adults

Question 7

How do symptoms present in adults - stats

Answer 7

80% respiratory and GI
15% just respiratory
5% just GI

Question 8

What does CFTR stand for

Answer 8

Cystic fibrosis Transmembrane conductance regulator

Question 9

Ivacaftor

Answer 9

New treatment which targets G551D mutation - affects 5-10% of patients
Binds to CFTR and improves transport of chlorine into the cell
Reduces sweat chlorine
Improves lung function by 10%
Causes weight gain
very expensive

Question 10

What type of mutation is G551D?

Answer 10

TYPE3/4

Question 11

Different types of mutation associated with CFTR

Answer 11

1: no production
2: no maturation
3: Blocked regulation- non-activated
4: Decreased conductance- abnormal channels
5: Decreased abundance- scarce

Question 12

Contraindications for lung transplant

Answer 12

ABSOLUTE`:
Malignancy in the past 5 years 
Dependancy to nicotine, alcohol, smoking 
Other organ failure 
Peripheral vascular disease
Microbiology issues 
RELATIVE
non-compliance
steroids- 20mg a day
osteoporosis 
LOW BMI
lack of social support 
other organ dysfunction
surgical risk e.g. previous thoracic surgery

Question 13

Male infertility operation

Answer 13

Intracytoplasmic sperm injection technique:

• sperm injected straight into egg
• 3 chances of NHS

Question 14

How to treat respiratory infection in early years

Answer 14

• segregation
• clerance of airways
• mucolytis
• prophylactic antibiotics
• annual influenza vaccinations

Question 15

ways of airway clearance machines and mechanisms

Answer 15

MACHINES
PEP mask- positive expiratory pressure mask
Cornet machine/flutter machine 
High frequency oscillation 
MECHANISM:
percussion and drainage 
Normal chest breathing
Autogenic drainage?

Question 16

Mucolytis

Answer 16

breakdown of XS DNA synthesised when XS neutrophils are produced

• Hypertonic Saline solution: cheap/ medium benefit
• DN-ase- alfadornase: expensive/medium benefit

Question 17

Respiratory tract infection organisms in adults

Where are they picked up?

Answer 17

• Pseudomans aeruginosa
• Bulkholderia cepacia
• picked up from the environment
• from CF patients
• from segregation policies

Question 18

Pseudomans aeruginosa

Answer 18

• once it colonises it undergoes a mucoid change which leads to it forming a biofilm which protects it from inflammatory cells
• allows the development of antibiotic resistance
• reduces life expectancy- rapid lung function decline

Question 19

Bulkholderia Cepacia

Answer 19

• Rapid lung function decline/reduced life expectancy
• Cepacia syndrome- very quick decline
• high antibiotic resistance

Question 20

Oral antibiotics or IV?

Answer 20

Oral: staph aureus, haemophilius influenza, Pneumococcus
IV: Pseudomans, bulkholderia