Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Respiratory Medicine > Cystic Fibrosis > Flashcards

Cystic Fibrosis Flashcards

1
Q

What is the most common genetic cause of cystic fibrosis?

A

autosomal recessive deltaF508 mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

How many recognised mutations can cause cystic fibrosis?

A

> 2500

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

How many caucasian live births are affected by CF?

A

1 in 2000-2500

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What are the chances that a child will be
A) Affected
B) Unaffected
C) A carrier

if both parents are carriers of CF?

A

1 in 4 chance a child will be affected.

1 in 4 chance unaffected

2 in 4 chance carrier.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What is the cause of death in 90% of CF patients?

A

Respiratory Failure

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Briefly explain the pathophysiology of cystic fibrosis

A

mutation in the transmembrane conductance regulator protein (CFTR)

Abnormal function of the protein channel means chloride is trapped in the cell. Sodium and water then follow chloride into the cell, which:

  1. Dehydrates airway surface liquid and mucous layer
  2. Causes thick mucous which is difficult to cough up to sticks to the mucosal surface, causing shearing
  3. Mucous collects bacteria and reduces the body’s ability to fight infection (mucociliary clearance is compromised so bacteria is not moved out of the lungs)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

On which part of which chromosome can the transmembrane conductance regulator protein be found?

A

the long arm of chromosome 7

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

In how many different ways can the CFTR protein mutate?

A

6

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Which class of CFTR mutation is the most common?

A

Class 2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

How can cystic fibrosis be diagnosed before birth?

A
  1. Antenatal testing (including pre-implantation genetics)
  2. Chorionic villous sampling
  3. Amniocentesis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

How can cystic fibrosis be diagnosed after birth?

A
  1. Neonatal screening (Guthrie test)
  2. Faecal elastase
  3. CT
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

How does cystic fibrosis present clinically?

A

CF is a multisystem disease and can affect any part of the body

The Two Common Presentations of CF throughout Life are: Pancreatic Insufficiency and Lung infections

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is one of the first CF indicators in CF patients?

A

Failure to thrive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Which classes of cystic fibrosis result in pancreatic insufficiency?

A

Class I-III are pancreatic insufficient.

Class IV-VI have some pancreatic function

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

How does CF affect the pancreas?

A

prevents the pancreas producing the enzymes trypsin and colistin which then results in poor food digestion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Why does pulmonary infection occur in CF patients?

A

Abnormal electrolyte transport across cell membrane causes the dehydration of the airway surface layer.
This in turn causes reduced mucocillary clearance, shearing and inflammation, increased bacterial access and reduced bacterial killing

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What occurs as a result of recurrent chest infections in CF?

A
  • Pneumonia
  • Bronchiectasis
  • Scarring
  • Abscesses
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What causes the chronic and excessive production of sputum in CF?

A

The progressive bronchiectasis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

How is type 1 respiratory failure defined?

A

reduced PaO2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

How is type 2 respiratory failure defined?

A

Reduced PaO2 and decreased PaCO2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

How is cycstic fibrosis managed?

A
  • Oxygen
  • Nocturnal non-invasive ventilation
  • Lung transplant in some
  • Manage pancreatic insufficiency
  • Manage mucous obstruction
  • Manage chronic infection & inflammation
  • Support management if scarring, fibrosis and bronchiectasis
22
Q

Explain how pancreatic insufficiency is managed in CF patients?

A
  1. Replace enzymes: (creon)
  2. Diet: high energy plus high calorie supplement drinks (not low fat)
  3. Nutritional supplements, including: fat-soluble vitamin and mineral supplements
23
Q

Explain how mucous obstruction is managed in CF patients

A

physiotherapy, mucolytics (oral, inhaled or nebulized medications such as hypertonic saline (nebulized), pulmison & bronchotol) and bronchodilators (e.g. salbutamol)

24
Q

Explain how chronic infection is managed in CF patients

A

antibiotics (oral, IV or nebulized)

25
Q

Explain how chronic inflammation is managed in CF patients

A

Azithromycin (an antibiotic with anti-inflammatory properties that can reduce the number of infective exacerbations of CF).

26
Q

Name the 4 other aspects of CF that it is important to be aware of

A
  1. Diabetes
  2. Osteoporosis
  3. Pneumothorax
  4. Haemoptysis
27
Q

Which type of diabetes is most common in CF patients?

A

Type 2 (where the pancreas doesn’t produce enough insulin or the insulin produced doesn’t work)

28
Q

Who manages diabetes in a CF patient?

A

A joint CF/Diabetes clinic

29
Q

Why is it complicated to be diabetic and a CF patient?

A
  • CF patients need a high calorie diet (unlike non CF diabetics)
  • Insulin is of benefit, but oral drugs are not so useful in CF patients (it’s the other way around in non-CF diabetics).
30
Q

Why do CF patients often suffer from osteoporosis?

A

A slower gain of bone tissue alongside a faster loss is secondary to malabsorption and worsens the sicker you are

31
Q

What does osteoporosis increase the risk of?

A

Fractures

32
Q

How is osteoporosis manages in a CF patient?

A

bone protection drugs and weight bearing exercise

33
Q

Which complication of CF may prevent a patient from being eligible for a lung transplant?

A

Osteoporosis

34
Q

what % of CF patients suffer a pneumothorax?

A

3-4%

35
Q

What % of pneumothoraxes reoccur in CF patients?

A

50%

36
Q

what are the risk factors for pneumothorax in a CF patient?

A

being older & the presence of severe obstructive lung disease

37
Q

What causes haemoptysis in CF patients?

A

Destruction of the bronchial wall

38
Q

What % of CF patients suffer a massive haemoptysis each year?

A

1%

39
Q

How is massive haemoptysis treated?

A

Resus

40
Q

What are the risk factors associated with haemoptysis in CF?

A
  • Severe CF
  • High number of exacerbations
  • fungal lung infection
  • liver disease, Vit K deficiency or on anticoagulants (all can thin the blood)
41
Q

What are the two most common bacteria causing infection in children with CF?

A
  • Haemophilus influenza

* staphylococcus aureus

42
Q

what is the most common bacteria causing infection in adults with CF?

A

Pseudomonas aeruginosa

43
Q

Name the bacteria that is associated with a 50% reduction in mortality in CF patients

A

Burkholderia Cepacia

44
Q

What is “Cepacia syndrome”?

A

A rapid decline over a few weeks resulting in death (caused by a Burkholderia Cepacia infection)

45
Q

Which kind of infection is a contraindication to surgery?

A

the Genomovar III strain of B. Cepacia and Mycobacterium abcessus

46
Q

How long is the treatment for Mycobacterium abcessus?

A

1 month in hospital, and at least 1 year beyond this

47
Q

What are the indications for lung transplantation in CF?

A
  • Rapidly deteriorating lung function
  • FEV1 < 30% predicted
  • Life threatening exacerbations
  • Estimated survival <2 years
  • recurrent pneumothorax and/or recurrent severe haemoptysis
48
Q

What % of CF patients die on the transplant waiting list?

A

30-40%

49
Q

Is lung transplantation curative in CF?

A

No- it is a measure to prolong survival and improve QoL

50
Q

List the 6 absolute contraindications to lung transplantation in CF patients

A
  • Other organ failure
  • Malignancy within 5 years
  • Significant peripheral vascular disease
  • Drug, nicotine, alcohol dependency
  • Active systemic infection
  • Microbiological issues (eg. M. abscessus)

Respiratory Medicine (27 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions