Cystic fibrosis, lung cancer & sleep apnea Flashcards

1
Q

what is cystic fibrosis

A

an inherited defect in cell chloride channels

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2
Q

what gene is cystic fibrosis caused by

A

CFTR gene

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3
Q

what chromosome is the CFTR gene present on

A

7

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4
Q

what type of gene is CFTR gene

A

recessive

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5
Q

what does cystic fibrosis result in

A

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

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6
Q

what is used to diagnose cystic fibrosis

A

perinatal testing

sweat tests

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7
Q

describe perinatal testing for CF

A

done at birth
blood taken from heel
screened for CF

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8
Q

what is the sweat test

A

for CF

those with CF have greater salt content

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9
Q

what are the main symptoms of cystic fibrosis

A
troublesome cough 
repeated chest infection 
prolonged diarrhea 
poor weight gain 
liver dysfunction in some 
prone to osteoporosis 
diabetes symptoms
reduced fertility
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10
Q

why do those with CF have a troublesome cough

A

they struggle to clear the mucus

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11
Q

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

A

it is unusual organisms

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

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12
Q

why is there prolonged diarrhea

A

due to an inability to digest fats

pancreas cannot secrete its enzymes

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13
Q

why are CF patients more prone to osteoporosis

A

they are not absorbing nutrients

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14
Q

why do CF patients have diabetes symptoms

A

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

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15
Q

what is the treatment for CF

A
physiotherapy
medication
exercise
transplantation
gene therapy
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16
Q

what is the first port of call for Tx of CF

A

physiotherapy

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17
Q

what is physiotherapy used for in CF patients

A

o Used to help remove the mucous secretions from the lungs

o Performed at home by parents

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18
Q

how much Physio is needed for CF patients

A

10-60 mins a day

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19
Q

what is the aim of physiotherapy for CF patients

A

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

20
Q

what are the medications of CF aimed at

A

lungs

digestive system

21
Q

what are the medications for the lungs of CF patients for

A

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

22
Q

why do we want to digest mucous in CF patients

A

makes it easier to cough up

23
Q

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

A

pancreatic enzyme replacement

nutritional supplements

24
Q

what is the aim of the exercise for CF patients

A

o Necessary to keep lung function optimal

o Necessary to build physical bulk and strength

25
Q

what is the aim of transplantation

A

its not a cure

used for end stage lung disease

26
Q

what is gene therapy for CF

A

looking to replace the gene

27
Q

what is the issue with gene therapy

A

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

28
Q

what is the most common lung cancer

A

squamous cell carcinoma

29
Q

why do squamous cell carcinomas occur

A

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

30
Q

what are the other lung tumors

A

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

31
Q

what is the effect of lung tumors

A
cough 
haemoptysis 
pneumonia
metastasis 
dysphagia 
SVC obstruction 
recurrent laryngeal nerve palsy
32
Q

what is hemoptysis due to

A

• 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

33
Q

why does pneumonia occur because of lung tumors

A

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

34
Q

where does metastasis often spread to

A

bone
liver
brain

35
Q

why does dysphagia occur with lung tumors

A

 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

36
Q

what is treatment for lung cancers

A

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

37
Q

what is treatment for small cell tumor

A

possibility of chemotherapy or palliation

38
Q

what is treatment for non small cell tumors

A

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

39
Q

what is sleep apnea

A

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

40
Q

why does sleep apnea occur

A

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

41
Q

what type of sleep apnea are non snorers

A

central

42
Q

what can sleep apnea result in

A

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

43
Q

describe what happens in obstructive sleep apnea

A

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

44
Q

why are obese patients more at risk of sleep apnea

A

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

45
Q

what are treatments for sleep apnea

A

continuous positive airway pressure

mandibular advancement devices

46
Q

what does CPAP do for sleep apnea

A

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

47
Q

what do mandibular advancement devices do

A

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