cystic fibrosis Flashcards

1
Q

what type of mutation is cystic fibrosis?

A

CFTR gene mutation (chromosome 7)
- this is a chloride channel mutation (energy dependant channel)

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2
Q

describe the normal action of the chloride channel?

A
  • when the Cl channel open on the lung epithelial membrane, chloride moves out into the lumen of the airway
  • this pulls Na with it. (maintaining neutrality)

This creates a salt of Na+Cl = osmotic pressure that pulls water out into the lumen.

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3
Q

goblet cells in the airway?

how does the moisten the airway?

how do cilia act here?

A

produce mucopolysaccharide material.
- this will combine with water

this is what moisten the airways= airway surface liquid that traps bacteria.

cilia will move anything away that gets stuck here.

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4
Q

how does all of this change in cystic fibrosis?

A

not enough water gets pulled out due to a defect in the chloride channel.

  • this makes heavy mucus that will not move very well.

But we still want to get rid of the bacteria

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5
Q

how does the body get rid of the bacteria in cystic fibrosis?

A

neutrophils will try to breakdown the bacteria = secretion of inflammatory molecules. THIS WILL DAMAGE LUNG TISSUE.

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6
Q

where does this also happen in the body?

A

pancreas
liver
sweat glands
reproductive tract

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7
Q

what is the main diagnostic technique for TB?

what genes are they looking for?

A

newborn screening for genes.

IRT (immunoreactive trypsinogen)
- this enzyme is produced by the pancreas (it should not be found in the blood, it is a sign that the pancreas is being destructed.

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8
Q

what are some symptoms of cystic fibrosis?

A

recurrent chest infections
- infertility
- dibetes type 3
- pancreatitis
- liver dysfunction

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9
Q

how does the sweat test work for screening for TB?

A
  • uses the Pilocarpine ionotoporesis tenchnique (electrical current is applied)
  • measure the minimum sweat volume and the chloride concentration of the sweat will be analysed.
  • sweat chloride concentration >60 = CF
    40-60mmol/l Is borderline high
    <40 mmol/l is normal
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10
Q

what are other tests that can be done to look for CF?

A
  • stool elastase
  • genetics
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11
Q

what kind of doctors would be on the team for CF?

A
  • respiratory
  • GI/Liver
  • Endocrine - diabetes
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12
Q

what is CF exacerbation?

A

an exacerbation is defined as the need for. additional antibiotic treatment based on the presence of 2 or more of:
- change in sputum volume
- increased cough
- anorexia
- X-ray changes

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13
Q

what are examples of:
viruses
bacteria
fungi
that we are concerned about in cystic fibrosis?

A

viruses = flu, rhinovirus

bacteria = s.aureus, pseudomonas

fungi = aspergillus

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14
Q

what are 3 mechanisms of new CF therapies?

A

1) suppressors of premature stop codons
2) CFTR correctors
3) CFTR potentiators

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15
Q

what are 5 things will make up treatment in the early years of CF?

A

1) airway clearance (mucolytic therapy delivery through nebulisers)

2) nutritional management (calories, vitamins, salt)

3) management of chest exacerbations

4) regular MDT clinic

5) Ad-hoc reviews

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