Cystic fibrosis, lung cancer & sleep apnea

Question 1

what is cystic fibrosis

Answer 1

an inherited defect in cell chloride channels

Question 2

what gene is cystic fibrosis caused by

Answer 2

CFTR gene

Question 3

what chromosome is the CFTR gene present on

Answer 3

7

Question 4

what type of gene is CFTR gene

Answer 4

recessive

Question 5

what does cystic fibrosis result in

Answer 5

It produces an excess sticky mucous with the lungs and pancreas mainly being affected

Question 6

what is used to diagnose cystic fibrosis

Answer 6

perinatal testing

sweat tests

Question 7

describe perinatal testing for CF

Answer 7

done at birth
blood taken from heel
screened for CF

Question 8

what is the sweat test

Answer 8

for CF

those with CF have greater salt content

Question 9

what are the main symptoms of cystic fibrosis

Answer 9

troublesome cough 
repeated chest infection 
prolonged diarrhea 
poor weight gain 
liver dysfunction in some 
prone to osteoporosis 
diabetes symptoms
reduced fertility

Question 10

why do those with CF have a troublesome cough

Answer 10

they struggle to clear the mucus

Question 11

what do the repeated chest infections of those with CF present as

Answer 11

it is unusual organisms

weak pathogens that would not normally cause problems e.g pseudomonas and stapholocci

Question 12

why is there prolonged diarrhea

Answer 12

due to an inability to digest fats

pancreas cannot secrete its enzymes

Question 13

why are CF patients more prone to osteoporosis

Answer 13

they are not absorbing nutrients

Question 14

why do CF patients have diabetes symptoms

Answer 14

o Islets making insulin are gradually destroyed, becomes diabetic over time

Question 15

what is the treatment for CF

Answer 15

physiotherapy
medication
exercise
transplantation
gene therapy

Question 16

what is the first port of call for Tx of CF

Answer 16

physiotherapy

Question 17

what is physiotherapy used for in CF patients

Answer 17

o Used to help remove the mucous secretions from the lungs

o Performed at home by parents

Question 18

how much Physio is needed for CF patients

Answer 18

10-60 mins a day

Question 19

what is the aim of physiotherapy for CF patients

Answer 19

o Aim is to drain the mucous into big airways to be coughed up

Question 20

what are the medications of CF aimed at

Answer 20

lungs

digestive system

Question 21

what are the medications for the lungs of CF patients for

Answer 21

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

Question 22

why do we want to digest mucous in CF patients

Answer 22

makes it easier to cough up

Question 23

what are the medicines aimed at the digestive system in CF patients

Answer 23

pancreatic enzyme replacement

nutritional supplements

Question 24

what is the aim of the exercise for CF patients

Answer 24

o Necessary to keep lung function optimal

o Necessary to build physical bulk and strength

Question 25

what is the aim of transplantation

Answer 25

its not a cure | used for end stage lung disease

Question 26

what is gene therapy for CF

Answer 26

looking to replace the gene

Question 27

what is the issue with gene therapy

Answer 27

o It is easy to get the gene into adult cells but the problem is when the cells are dying and replaced they are replaced by the faulty cells from the initial stage

Question 28

what is the most common lung cancer

Answer 28

squamous cell carcinoma

Question 29

why do squamous cell carcinomas occur

Answer 29

Squamous cells occur because of irritation of smoking which causes metaplasia.

Question 30

what are the other lung tumors

Answer 30

small cell lung tumors (25%) large cell lung tumors (20%) adenocarcinoma (15%)

Question 31

what is the effect of lung tumors

Answer 31

``` cough haemoptysis pneumonia metastasis dysphagia SVC obstruction recurrent laryngeal nerve palsy ```

Question 32

what is hemoptysis due to

Answer 32

• Haemoptysis (blood stained sputum) o Tumours tend to be very vascular and fragile and so can bleed easy on minor irritation o Patient can cough up blood

Question 33

why does pneumonia occur because of lung tumors

Answer 33

o If the tumour has grown across the airway then anything distal to the airway cant escape o Bacteria multiply and pneumonia is a consequence of that o It results in swelling, inflammation, systemic effects

Question 34

where does metastasis often spread to

Answer 34

bone liver brain

Question 35

why does dysphagia occur with lung tumors

Answer 35

 In a squamous cell carcinoma the tumour roughly sits where the trachea bifurcates. Right behind the trachea is the oeseophagus so the growing tumour can cause a difficulty in swallowing. It will get progressively worse

Question 36

what is treatment for lung cancers

Answer 36

Treatment differs depending on whether it is a small cell tumour or not

Question 37

what is treatment for small cell tumor

Answer 37

possibility of chemotherapy or palliation

Question 38

what is treatment for non small cell tumors

Answer 38

Non-small cell cancers have investigations to see if they are potentially operable. If not then there is possibility of potentially curative radiotherapy/chemotherapy however most common is palliation

Question 39

what is sleep apnea

Answer 39

Sleep apnoea is airway obstruction while asleep for 10 seconds or more

Question 40

why does sleep apnea occur

Answer 40

It is because airway muscle tone drops (central) or due to obstruction (obstructive)

Question 41

what type of sleep apnea are non snorers

Answer 41

central

Question 42

what can sleep apnea result in

Answer 42

It results in drowsiness during the day and can result in falling asleep whilst driving Results in an increased risk of MI (due to low oxygen) so should be treated to improve survival as there is a higher chance of acute cardiovascular events in chronic hypoxia

Question 43

describe what happens in obstructive sleep apnea

Answer 43

breathing pauses due to narrowed or blocked airway Risk factors are: ○ Palate or airway being able to collapse more easy ○ Large tongue which may fall back and block the airway ○ Large neck or collar size Large tonsils

Question 44

why are obese patients more at risk of sleep apnea

Answer 44

The bigger the pressure downwards (when lying down), the worse it is therefore those who are obese end up with worse sleep apnoea.

Question 45

what are treatments for sleep apnea

Answer 45

continuous positive airway pressure | mandibular advancement devices

Question 46

what does CPAP do for sleep apnea

Answer 46

It blows air into the upper airway but not enough to force it into the lungs. It is just enough to keep pressure in the system to keep the airway open

Question 47

what do mandibular advancement devices do

Answer 47

these pull the tongue forward keeping it away from the back of the throat.