cystic fibrosis Flashcards

(31 cards)

1
Q

What kind of inheritance

A

Autosomal recessive

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2
Q

What is average survival

A

36 years old

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3
Q

Is it a multi system disorder

A

Yes

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4
Q

What gene is it located on

A

Chromosome 7

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5
Q

What does the mutation cause

A

Alterations in CFTR protein

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6
Q

What is the CFTR protein

A

Chloride channel

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7
Q

What mutation is it

A

F508del

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8
Q

What is first drug available

A

Ivafactor

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9
Q

When is ivafactor given for what mutation

A

G551D

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10
Q

What does CFTR dysfunction do to the lungs

A
  • dehydrated airway surface liquid
  • mucus stasis
  • airway inflammation
  • recurrent infection
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11
Q

What can it lead to

A

Bronchiectasis

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12
Q

Is it a multi system disease

A

Yes

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13
Q

Can it cause cirrhosis

A

Yes

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14
Q

What respiratory symptoms occur

A
  • recurrent respiratory infection
  • chronic cough
  • daily sputum
  • breathless
  • nasal polyps
  • haemoptysis
  • pneumothorax
  • cor pulmonale
  • recurrent sinusitis
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15
Q

What are GI complications

A
  • failure to thrive in infancy
  • intestinal obstructive syndrome
  • steatorrhoea
  • liver disease and cirrhosis
  • increased risk of GI malignancy
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16
Q

When are most CF diagnoses made

A

At newborn screening

17
Q

What does the test involve

A

Measuring immunoreactive trypsinogen

neonatal heel prick test

18
Q

What other investigations can be done

A
  • sweat test

- genetic test (confirmatory)

19
Q

How often should patients be seen

A

Every 3 months

20
Q

What is the long term anti-inflammatory treatment

A

Long term azithromycin

21
Q

What is a great threat to patients

A

Spread of respiratory infections

22
Q

What infection is common

A

Pseudomonas aureginosa

23
Q

What should respiratory failure be treated with

A

Oxygen and non-invasive ventilation

24
Q

What is used to maintain BMI

A

Overnight gastric feeding

25
What has to be screened for annually
Related diabetes
26
What drug is a CFTR corrector
Lumacaftor
27
What is lumafactor used in combination with
Ivafactor
28
what is there an absence of in males
vas deferens
29
new born screening
dried heel prick test NOT DIAGNOSTIC !
30
best diagnostic indicator
sweat test
31
what are the 2 mutations
delF508 | G551D