CF

Question 1

aetiology

Answer 1

mutation in CF gene on long arm of chromosome 7

autosomal recessive mutation

Question 2

what does the CF gene normally do

Answer 2

Codes for CF transmembrane conductance regulator (CFTR) channel.

Normally transports Cl- balancing salt & water on epithelial surface.

CFTR normally inhibits sodium channel

Question 3

what does the mutated gene cause in CF

Answer 3

decreased Cl- secretion -> thicker mucous secretion on epithelium. Can happen in airway, GI, reproductive organs

in CF the Na channel flows loads of sodium into cells, water follows it and you get a thick, dehydrated mucous on the epithelial surface

Question 4

pathology

Answer 4

Abnormal CFTR proteins -> 
Cilia collapse & inflammation -> 
Chronic Infection -> 
Mucous plugging, ulceration & inflammation -> 
Bronchiectasis

Question 5

what can catching CF early improve

Answer 5

lung function and nutrition

Question 6

what are the cardinal signs of CF

Answer 6

recurrent broncho-pulmonary infection

• bronchiectasis, abscesses
• haemoptysis, pneumothorax

pancreatic insufficiency

• pale/orange oily offensive stools
• failure to thrive
• fat soluble vitamin deficiency

GI symptoms

Question 7

what are the GI symptoms of CF

Answer 7

dysmotility

• GO reflux
• constipation/rectal prolapse

co-existant disease

• crohns
• coeliac disease

Question 8

what are some other symptoms of CF

Answer 8

Bilateral absence/blockage of Vas Deferens -> Male Infertility

Arthritis/Osteoporosis

Nasal Polyps & Sinusitis

Hepatopathy

Diabetes

Heat Exhaustion

Vaginal Candiasis

Question 9

what are some of the signs of CF

Answer 9

cyanosis
clubbing
bilateral crackles
increased salt in sweat
cough
wheeze
failure to thrive
dyspnoea

Question 10

how can CF be tested for

Answer 10

neonate screening - GUTHRIE TEST

• bloodspot test for immunoreactive trypsinogen (lower levels in CF)
• if +ve follow with mutation analysis and CF sweat test

bloods, cough swab, CXR

record/chart growth to monitor pancreatic insufficiency and GI blockage

Question 11

who is involved in the management of CF

Answer 11

MDT - primary care handling surveillance and infection treatment

Question 12

what is the management for pancreatic insufficiency

Answer 12

Enteric Coated Enzyme Pellets

High Energy Diet

Fat soluble mineral/vitamin Supplements

~H2 antagonist or proton pump inhibitors

Question 13

what is the management for respiratory pre-infection

Answer 13

Segregation/cohorting to prevent cross-infection

Airway Clearance & adjuncts

Mucolytics

Influenza Vaccine

Prophylactic Antibiotics

Question 14

what is the management for respiratory chronic infection

Answer 14

Treat Infective Exacerbations

Reduce Inflammation

Suppress Bacterial Load

Ibuprofen - Azithromycin - Prednisolone

Bronchodilators

Question 15

what transplants can CF patents have

Answer 15

Liver, Pancreas & double Lung transplants

Question 16

name some mucolytics and how they work

Answer 16

e. g. Alfladornase
- breaks down DNA released from neutrophils, making sputum easier to clear.

e. g. Hypertonic Saline
- does the same thing & is cheaper

Question 17

what is involved in airway clearance

Answer 17

Percussion & Drainage

Autogenic drainage

Active Cycle of Breathing

Question 18

what are some airway clearance adjuncts

Answer 18

Positive Expiratory Flow Mask

High frequency Chest Wall Oscillation

Chest physiotherapy vest