Cystic fibrosis lung cancer and sleep apnoea Flashcards

1
Q

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

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

How many people in the population are carriers of CF?

A

1 in 25

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3
Q

How many births have CF to some extent?

A
  • 1 in 2500
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4
Q

What is CF and what does it produce?

A
  • Inherited defect in cell chloride channels

- Produces excess sticky mucous

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5
Q

Which 2 organs are mainly affected by CF?

A
  • Lung and pancreas
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6
Q

What 2 tests can you use to test for CF?

A

Perinatal testing:

  • All children now screened at birth - blood

‘sweat test’:

  • Measures salt content of sweat (greater salt in CF patients)
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7
Q

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

A
  • Troublesome cough
  • Repeated chest infections (with pathogens that would not usually cause a problem - pseudomonas, staphylococci)
  • Prolonged diarrhoea
  • Poor weight gain
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8
Q

What are 4 less common symptoms of CF?

A
  • Liver dysfunction in some
  • Prone to osteoporosis
  • Diabetes symptoms (prolonged pancreas disease)
  • Reduced fertility (mainly male)
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9
Q

What are 4 treatments of CF?

A
  • Physiotherapy
  • Medication (antibiotics)
  • Exercise (helps to clear out pipes)
  • Transplantation
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10
Q

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

A
  • Physiotherapy
  • Because the lungs are full of sticky substances - if this can be removed from the lungs, chances of infection are reduced
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11
Q

How often would someone with CF need physio treatment?

A
  • Performed at home for 10-60 mins daily
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12
Q

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

A
  • Bronchodilators to open the airways
  • Antibiotics to reduce chest infection frequency
  • Steroids to reduce airway inflammation
  • Dnase to break down mucous
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13
Q

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

A
  • Pancreatic enzyme replacement

- Nutritional supplements

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14
Q

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

A
  • Necessary to keep lung function optimal

- Necessary to build physical bulk & strength

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15
Q

IS transplantation a cure for CF?

A
  • No
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16
Q

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

A
  • 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
17
Q

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

A
  • 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
18
Q

What is the biggest preventable cause of lung cancer?

A
  • Smoking

- Most lung cancers are SCC which are due to smoking

19
Q

What % of lung cancers are not due to smoking?

A
  • About 40%
20
Q

Are lung tumours benign or malignant?

A
  • Almost ALL are malignant
21
Q

What % of lung tumours are squamous cell carcinomas?

A
  • 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)
22
Q

What % of lung tumours are small cell?

A
  • 25%
23
Q

What % of lung tumour are large cell?

A
  • 20%
24
Q

What % of lung tumours are adenocarcinomas?

A

15%

25
Q

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

A
  • Cough
  • Haemoptysis (blood stained sputum)
  • Pneumonia
  • Metastasis - bone, liver, brain
  • Dysphagia
  • SVC obstruction (superior vena cava)
  • Recurrent laryngeal nerve palsy (hoarse)
26
Q

What is haemoptysis?

A
  • Blood stained sputum
27
Q

What is obstructive sleep apnoea?

A
  • Airway obstruction whilst asleep (10 secs or more duration)
  • Airway muscle tine drops
28
Q

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

A
  • Airway obstruction whilst asleep
  • May snore
  • Drowsiness during the day
  • Increased risk of MI (low O2)
29
Q

What is most common - OSA or central sleep apnoea?

A
  • OSA

- Mixed form possible

30
Q

How can you measure obstructive sleep apnoea?

A
  • AHI (apnoea/hypopnoea index)

- Score <10 few problems

31
Q

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

A
  • 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
32
Q

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

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