cystic fibrosis Flashcards

1
Q

what is the common infectious organism associated with bronchiectasis + cystic fibrosis called?

A

pseudomonas aeruginosa

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2
Q

what is cystic fibrosis?

A

common autosomal recessive disorder

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3
Q

what is mutated in cystic fibrosis?

A

transmembrane conductance regulator protein (CFTR)

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4
Q

where is the mutation coded on?

A

chromosome 7

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5
Q

what is the most common mutation called?

A

delta-F508

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6
Q

what does abnormal protein channel function (CFTR ) lead to ?

A

chloride being trapped in the cell

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7
Q

what 4 things does the movement of sodium and water into the cell lead to?

A
  • airway surface dehydration
  • bacteria collection
  • difficulty in coughing
  • shearing (accumulation of mucus)
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8
Q

what does decreased mucociliary clearance lead to?

A
  • frequent pulmonary infections with bacterial colonisation
    -> chronic damage to pulmonary tree
    –> abnormal dilation (bronchiectasis)
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9
Q

what are 3 extrapulmonary effects/

A

fat malabsorption due to pancreatic insufficiency

risk of osteoporosis

risk of type 2 diabetes

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10
Q

what are 5 presentations of cystic fibrosis?

A

abnormal stools (pale, offensive, float)

chronic productive cough

failure to thrive, weight gain + difficulty growing

haemoptysis

recurrent chest infections

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11
Q

what are 7 presentations of cystic fibrosis?

A

bronchiectasis

chest infections

haemoptysis

infertility

meconium ileus (bowel obstruction)

pancreatic insufficiency

type 2 diabetes

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12
Q

what is used to diagnose this?

A

Newborn blood spot testing is performed on all children shortly after birth and picks up most cases

The sweat test is the gold standard for diagnosis

Genetic testing for the CFTR gene can be performed during pregnancy by amniocentesis or chorionic villous sampling, or as a blood test after birth

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13
Q

what is the treatment for CF?

A

MDT approach

Maintaining lung function (physiotherapy, postural drainage, mucolytics)

Monitoring lung bacteriology (antibiotics)

Consider referral for a lung transplant

Nutritional support

Enzyme replacement

Vitamin replacement (A, D, E & K)

Frequent weight review

Endocrine

Annual screening for CF-related diabetes

Fertility advice

Pseudomonas pneumonia - nebulised antibiotics e.g. tobramycin and oral ciprofloxacin

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