CF, lung cancer and sleep apnoea Flashcards

1
Q

what type of disorder is cystic fibrosis?

A

inherited respiratory disorder

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2
Q

what gene is effect in CF?

A

CFTR gene - chromosome 7

recessive gene

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3
Q

pattern of inheritance for CF

A

recessive gene so both parents need to have the gene defect

  • 1 in 4 children affected
  • 2 in remaining 3 carriers
  • 1 healthy
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4
Q

how many are CF carriers in the population?

A

1 in 25

reasonably high chance of 2 meeting with recessive gene

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5
Q

what determines how badly someone is impacted by CF?

A

gene expression

carriers can still have side effects

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6
Q

predictability of CF

A

genetics is random so there is no way to predict if individual will have CF

Population based statistics cannot be applied to individual

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7
Q

what channels are effected in CF

A

chloride channels

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8
Q

what is the result of the chloride channel defect in CF

A

Produces excess sticky mucous (like glue, thick, sticky usually thin like saliva. Thick is hard to move, needed to remove dirt and debris in lungs, secretory ducts become blocked)

Lung and pancreas mainly affected

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9
Q

characteristics of CF

A

Characterised by lung congestion and infection and malabsorption of nutrients by the pancreas

Depends on individual reaction to disease and treatment on how they are affected

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10
Q

main CF diagnosis

A

perinatal testing

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11
Q

perinatal CF testing

A

All children now screened at birth (heel prick test)
- Blood
Know very early on so treatment more immediate

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12
Q

secondary (later) CF test

A

sweat test’
-Measures salt content of sweat

Greater salt in CF patients (due to chloride channel defect)

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13
Q

sweat salt content in CF

A

Greater salt in CF patients (due to chloride channel defect)

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14
Q

main CF symptoms

A

troublesome cough

repeated chest infections

prolonged diarrhoea

poor weight gain

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15
Q

what organisms commonly cause chest infection in CF patient

A

Pseudomonas, staphylococci

Unusual organisms (not normal cause problems, weak pathogens in lungs)

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16
Q

why do CF patients get prolonged diarrhoea

A

Unable to digest fat

  • Digestive enzymes not secrete by pancreas
  • Cannot digest or absorb energy from fat

Poor nutrition
- Need high carbohydrates as lack of energy = can lead to dental problem

Can give pills to replace digestive enzymes secreted by pancreas

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17
Q

other less common CF symptoms

A

liver dysfunction

prone to osteoporosis (not absorbing nutrients)

diabetes symptoms (prolonged pancreas disease)

reduced fertility - mainly male

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18
Q

4 categories of CF treatment

A

physiotherapy

medication

exercise

transplantation

(gene therapy?)

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19
Q

first point of treatment

A

physiotherapy

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20
Q

physiotherapy treatment of CF

A

Used to help remove the mucous secretions from the lungs
- Lungs filled with sticky gel = high infection chance

Performed at home by parents

  • Needs carried out several times of day
  • Moving the child around as lung lobes feed in at different angles, drain mucous towards main airway by gravity

10-60 mins daily needed

Carried on throughout life

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21
Q

medication CF treatment targets which organ(s)

A

lungs

digestive system

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22
Q

lung medication treatment for CF (4)

A

Bronchodilators to open the airways
- Wider = easier to remove mucous

Antibiotics to reduce Chest infection frequency

  • Need fairly frequently
  • Bacteria becomes resistant
  • Need to reduce general antibiotic use. Keeps CF antibiotic use more effective
  • Organisms which cause infections in CF become resistant quickly

Steroids to reduce airway inflammation

Dnase to break down mucous

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23
Q

digestive system medication treatment for CF (2)

A

Pancreatic enzyme replacement

  • Creon – mixture of pancreatic enzymes
  • Need to swallow them – not swallow so enter deep into GI tract with food so digestion occurs in tract

Nutritional supplements

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24
Q

2 reasons for exercise CF treatment

A

Necessary to keep lung function optimal
- Clear airway due increased breathing rate

Necessary to build physical bulk and strength

25
Q

details transplantation CF treatment

A

Not a cure
End stage lung disease
- also affects heart (cor pulmonale)
- Changes in lung in CF makes it harder to pump in lungs so need to complete transplant of both

Heart-lung transplant
- Survival: 70% survive up to 2 years
Longest survival about 12 years
- More practical

26
Q

why CF transplantation is heart and lung?

A

Changes in lung in CF makes it harder to pump in lungs so need to complete transplant of both

27
Q

trials of gene therapy for CF

A

Replace with correct gene and problem resolves

Relatively easy to get gene into adult cells – virus as a carrier into cells
- When they die and are replaced they are replaced by same faulty cell by stem cell
Need to alter stem cell replication to resolve the issue

28
Q

what are almost all lung tumours?

A

malignant

29
Q

most common lung tumour type

A

squamous cell carcinoma (40%)

30
Q

types of lung tumours

A
  • squamous cell carcinoma (40%)
  • small cell (25%)
  • large cell (20%)
  • adenocarcinoma
31
Q

issue with lung tumours

A

Issue with all lung cancers – don’t present until quite advanced
No symptoms till far down the line

Ruptured to lung surface

32
Q

effects of lung tumours

A

cough

haemoptysis

pneumonia

metastasis to bone, liver, brain

dysphagia

SVC obstruction

Recurrent laryngeal nerve palsy

33
Q

cough caused by lung tumour because

A

irritation of airway from tumour

34
Q

what is haemoptysis

A

blood stained sputum

35
Q

how does a lung tumour lead to haemptysis

A

tumours are very vascular

can lead to white-green sputum with blood streaks

36
Q

how can lung tumours cause pneumonia

A

tumour Grown across the airway,

anything distal to tumour cannot escape more likely for swelling, inflammation and system infection

37
Q

how can a lung tumour lead to dysphagia

A

squamous cell carcinoma tumours tend to be close to hilum

Tumour where trachea bifurcates (T4) oesophagus behind, bolus cannot go through compressed oesophagus

38
Q

how can a lung tumour lead to SVC obstruction

A

Blockage of main artery draining head and neck

  • Venous hypertension
  • Increased capillary [pressure
  • Swelling and prominent veins in head and neck as fluid is trapped
39
Q

effect of recurrent laryngeal palsy

A

hoarse voice

one side of larynx is paralysed

40
Q

3 common symptoms of lung tumours

A

trouble swallowing, hoarseness and swollen head veins

41
Q

effect of stopping smoking on lung tumour

A

less common

42
Q

peripheral lung tumours tend to be

A

not squamous cell carcinomas

43
Q

treatment options for most large cell lung tumours

A

inoperable

  • keep patient alive with palliation till death
44
Q

success surgically if tumour spread

A

lower

rely on immunotherapy

45
Q

whats key to early lung tumour diagnosis

A

promotion of prevention (decrease smoking)

= better chance of survival

46
Q

what lung tumour type is smoking related?

A

squamous cell carcinoma

47
Q

obstructive sleep apnea

A

Airway obstruction whilst asleep

  • 10secs or more duration, Temporary stops breathing
  • Airway muscle tone drops

Blood Oxygen levels drop
- Chronic hypoxia

May be snorers - may not (central)

Increased risk of MI (low Oxygen, chronic hypoxia suffered at night)
- Treat to improve SURVIVAL
Treat = live longer

48
Q

symptoms of sleep apnea

A

Drowsiness during the day
- Fall asleep driving

May be snorers - may not (central)

49
Q

sleep apnea effect on blood oxygen level

A

drop

- Chronic hypoxia

50
Q

sleep apnea increases risk of

A

MI

due to low Oxygen –> chronic hypoxia suffered at night

51
Q

what is the more common sleep apnea?

A

obstructive sleep apnea (not central)

52
Q

central sleep apnea

A

brain doesn’t tell lungs to breath when asleep = rare

53
Q

how to measure sleep apnea

A

Apnoea/hypopnoea index

Score <10 few problems

54
Q

anatomical description of sleep apnea

A

Soft palate flops back against airway – block it off unless movement

Asleep with sleep apnoea

  • tongue not stable and flops against soft palate too
  • Completely occludes airway. No gas into airway
  • Body gets so hypoxic after a few mins, the build up of CO2 causes patient to waken up in a few mins to move muscles
  • Lead to chronic tiredness
55
Q

how can obesity effect sleep apnea

A

Larger pressure at neck = worse the issue

56
Q

CPAP

A

Continuous positive air way pressure
- like Hoover in reverse

Blows air into upper airway
- Enough to keep pressure in system to keep tongue in airway up
Need to wear a mask over nose (tend to sleep with mouth shut if OSA)

57
Q

mandibular advancement devices

A

Tongue attached to front of mandible
- Pull forward then pull tongue forward less likely to fall back

Measure bite and move mandible forward and stuck to maxilla guard
- Very uncomfortable

58
Q

2 treatment options for obstructive sleep apnea

A

CPAP
- Continuous positive air way pressure

Mandibular advancement devices