Cystic fibrosis lung cancer and sleep apnoea

Question 1

CF is an abnormality in the CFTR gene in chromosome 7. IS it a recessive or dominant gene and what does this cause?

Answer 1

• Recessive gene
• Both parents need to have the gene
• 1 in 4 children affected
• 2 in remaining 3 carriers
• 1 healthy

Question 2

How many people in the population are carriers of CF?

Answer 2

1 in 25

Question 3

How many births have CF to some extent?

Answer 3

• 1 in 2500

Question 4

What is CF and what does it produce?

Answer 4

• Inherited defect in cell chloride channels

- Produces excess sticky mucous

Question 5

Which 2 organs are mainly affected by CF?

Answer 5

• Lung and pancreas

Question 6

What 2 tests can you use to test for CF?

Answer 6

Perinatal testing:

• All children now screened at birth - blood

‘sweat test’:

• Measures salt content of sweat (greater salt in CF patients)

Question 7

What are the main symptoms of cystic fibrosis? (4 points)

Answer 7

• Troublesome cough
• Repeated chest infections (with pathogens that would not usually cause a problem - pseudomonas, staphylococci)
• Prolonged diarrhoea
• Poor weight gain

Question 8

What are 4 less common symptoms of CF?

Answer 8

• Liver dysfunction in some
• Prone to osteoporosis
• Diabetes symptoms (prolonged pancreas disease)
• Reduced fertility (mainly male)

Question 9

What are 4 treatments of CF?

Answer 9

• Physiotherapy
• Medication (antibiotics)
• Exercise (helps to clear out pipes)
• Transplantation

Question 10

Which treatment is the first line of defence of treating CF?

Answer 10

• Physiotherapy
• Because the lungs are full of sticky substances - if this can be removed from the lungs, chances of infection are reduced

Question 11

How often would someone with CF need physio treatment?

Answer 11

• Performed at home for 10-60 mins daily

Question 12

What medications can be used on the lungs to help treat CF? (4 points)

Answer 12

• Bronchodilators to open the airways
• Antibiotics to reduce chest infection frequency
• Steroids to reduce airway inflammation
• Dnase to break down mucous

Question 13

What medication can be used on the digestive system to treat CF?(2 points)

Answer 13

• Pancreatic enzyme replacement

- Nutritional supplements

Question 14

Why is exercise a good treatment for CF? (2 points)

Answer 14

• Necessary to keep lung function optimal

- Necessary to build physical bulk & strength

Question 15

IS transplantation a cure for CF?

Answer 15

• No

Question 16

Why is a heart-lung transplant better than just a lung transplant for CF and what are the survival rates?

Answer 16

• Heart has to work harder with lungs with CF so heart failure is more likely to happen
• 70% survive up to 2 years
• Longest survival about 12 years

Question 17

How can gene therapy be a treatment for CF and what is the problem of this?

Answer 17

• Gene defect - wrong gene in the system (if can replace this with correct gene then the problem will go away)
• Problem - relatively easy to get gene into adult cells as can use a carrier but when these cells die and are replaced they are replaced with the initial faulty cells

Question 18

What is the biggest preventable cause of lung cancer?

Answer 18

• Smoking

- Most lung cancers are SCC which are due to smoking

Question 19

What % of lung cancers are not due to smoking?

Answer 19

• About 40%

Question 20

Are lung tumours benign or malignant?

Answer 20

• Almost ALL are malignant

Question 21

What % of lung tumours are squamous cell carcinomas?

Answer 21

• 40% (most common)
• SMOKING related (don’t have squamous cells in lungs - only happens because of irritation from smoking causing metaplasia to the epithelium to become squamous cells)

Question 22

What % of lung tumours are small cell?

Answer 22

• 25%

Question 23

What % of lung tumour are large cell?

Answer 23

• 20%

Question 24

What % of lung tumours are adenocarcinomas?

Answer 24

15%

Question 25

What effects can having lung tumours have on the body? (7 points)

Answer 25

• Cough
• Haemoptysis (blood stained sputum)
• Pneumonia
• Metastasis - bone, liver, brain
• Dysphagia
• SVC obstruction (superior vena cava)
• Recurrent laryngeal nerve palsy (hoarse)

Question 26

What is haemoptysis?

Answer 26

• Blood stained sputum

Question 27

What is obstructive sleep apnoea?

Answer 27

• Airway obstruction whilst asleep (10 secs or more duration)
• Airway muscle tine drops

Question 28

What are the symptoms of obstructive sleep apnoea? (4 points)

Answer 28

• Airway obstruction whilst asleep
• May snore
• Drowsiness during the day
• Increased risk of MI (low O2)

Question 29

What is most common - OSA or central sleep apnoea?

Answer 29

• OSA

- Mixed form possible

Question 30

How can you measure obstructive sleep apnoea?

Answer 30

• AHI (apnoea/hypopnoea index)

- Score <10 few problems

Question 31

A CPAP can be used to treat sleep apnoea. What is this?

Answer 31

• Continuous positive airway pressure
• Blows air into the upper airway, not enough to blow it into the lungs but enough to keep the tongue and the airway apart

Question 32

Mandibular advancement devices can be used to treat sleep apnoea. What are these?

Answer 32

• Pulls mandible forward which pulls tongue forward so less likely to fall back into the larynx
• Very uncomfortable