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Respiratory block > Cystic fibrosis > Flashcards

Cystic fibrosis Flashcards

1
Q

What is the inheritance pattern of CF ?

A

Autosomal recessive

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2
Q

What is the disease prevalence ?

A

1/2500

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3
Q

What is the prevalence for carriers ?

A

1/25

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4
Q

Where is the CFTR gene ?

A

Long arm of chromosome 7

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5
Q

What is the commonest mutation in CF ?

A

DF508

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6
Q

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

A

Respiratory failure

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7
Q

If both parents are carriers for the mutation , what is the chnace that the child will be affected ?

A

1/4

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8
Q

If both parents are carriers for the mutation , what is the chnace that the child will be a carrier ?

A

2/4

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9
Q

If both parents are carriers for the mutation , what is the chnace that the child will be unaffected ?

A

1/4

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10
Q

How does CF occur ?

A

Due to mutation in the transmembrane conductance regulator protein (CFTR)

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11
Q

What does abnormal transport of chloride and sodium cause ?

A

Reduced air way surface liquid
Thich sticky mucous
Shearing
Impaired bacterial killing via neutrophils

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12
Q

How many mutations classes of CFTR are there ?

A

6

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13
Q

What does classes I-III indicate ?

A

Severe disease

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14
Q

What does classes IV-VI indicate ?

A

Milder disease

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15
Q

How id CF diagnosed ?

A

Antenatal screening
Neonatal screening
Sweat test

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16
Q

What are the ways of antenatal screening ?

A

Pre-implantation genetic diagnosis
Chorionic villus sampling
Amniocentesis

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17
Q

What are the ways of neonatal screening ?

A

Gurthie test

+ screening- referred for clinical assessment and sweat test

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18
Q

What is the sweat test ?

A

Measures the concentration of chloride excreted in sweat

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19
Q

What happens to chloride in CF ?

A

Cl is elevated

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20
Q

When is sweat chloride abnormal ?

A

> 60mmol/L

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21
Q

What are the possible diagnosis outcomes ?

A

CF
Not CF
CF- screen positive inconclusive diagnosis (SPID)

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22
Q

Where about in the body can CF affect ?

A 
Lungs
GI and liver 
Psychosocial 
Nasal
Nutrition 
Reproductive
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23
Q

What are 2 main diseases caused by CF ?

A

Infection and bronchiectasis

Pancreatic insufficiency

24
Q

What other organ can CFTR affect ?

A

Pancreas

25
Q

What do lack of enzymes from the pancreas cause ?

A

Malabsorption
Abnormal stools
Failure to thrive

26
Q

What are the effects of the different classes of CF disease on the pancreas ?

A

Class I-III = pancreatic insufficiency

Class IV-VI = some pancreatic function

27
Q

What % of CFTR function do we need to have sufficient pancreatic function and be asymptomatic ?

A

5%

28
Q

What is recurrent chest infections linked to ?

A

Pneumonia
Bronchiectasis
Scarring
Abscesses

29
Q

What does CFTR abnormality cause ?

A

Abnormal electrolyte transport across cell memebrane
Dehydration of airway surface layer (water later which allows mucous to slide easily up
airway to be coughed up)
Decreased mucocilary clearance
Mucous sticks to mucosal surface and causes shearing and inflammation
Increased access to bacteria
Decreased bacteria killing

30
Q

How do pateints get repeated respiratory infections ?

A

Due to a vicious cycle of events

31
Q

What is the cycle of events that happen ?

A 
Decreased mucocilary clearance 
Increased bacterial adherence
Decreased endocytosis of bacteria 
 I
V
Bacterial colonisation 
 I
V
Inflammation 
Mucus plugging
Airway ulceration
Airway damage 
 I
V
*Bronchiectasis 
 I
V (back to the start)
32
Q

What is progressive bronchiectasis ?

A

Chronic sputum production

33
Q

What is progressive airflow obstruction linked to ?

A

Survival related to FEV1
Increasing breathlessness
Multiple drugs

34
Q

What is type 1 respiratory failure ?

A

Decreased PaO2

35
Q

What is type 2 respiratory failure ?

A

Decreased PaO2

Increased PaCO2

36
Q

In CF what does a CT show ?

A

Tramlines
Signet rings
Mucous plugging
Consolidation (infection)

37
Q

How is CF managed ?

A

By a MDT to improve long-term outcome

38
Q

What is the treatment of pancreatic insufficiency in CF ?

A

Boosting nutrition
Replace enzymes (CREON)
Diet- high energy + high calorie supplement drinks
Nutritional supplements- fat-soluble vitamin and mineral supplements

39
Q

What is the treatment of mucus obstruction inflammation in CF ?

A

Airway clearance via physiotherapy
Mucolytics
Bronchodilators

40
Q

What is the treatment of chronic infection in CF ?

A

Antibiotics- oral, IV, nebulised

41
Q

What is the treatment of increased inflammation in CF ?

A

Azithromycin

42
Q

What is the treatment of fibrosis/ scarring/ bronchiectasis in CF ?

A

Supportive management and management of symptoms

43
Q

What are a few aspects to be aware of in CF ?

A

Diabetes
Osteoporosis
Pneumothorax
Haemoptysis

44
Q

How does diabetes differ in pateints with CF ?

A

The type of diabetes and its management in CF differs

45
Q

What happens to pateints with osteoporosis and CF ?

A

Bone density mineral falls in pateints with CF

46
Q

What % of people with CF suffer from pneumothorax ?

A

3-4%

47
Q

What causes haemoptysis in CF ?

A

Bronchial wall destruction

48
Q

What are the risk factors for haemoptysis in CF ?

A

Severity of CF
High number of exacerbations
Fungal lung infection
Liver disease

49
Q

What are the social, educational and economic impact on children with CF ?

A 
Barriers to making friends
Increased depression/ anxiety 
Low adherence to time-consuming treatments 
Siblings
Increased costs to the family
50
Q

What are the social, educational and economic impact on adults with CF ?

A 
Transition from new MDT can be challenging 
Restrictions on career
Transport costs 
New drugs 
Pressures
Possibility of lung transplant
51
Q

What are the indications for double lung transplant ?

A 
Rapidly deteriorating lung function
FEV1 <30% predicted 
Life threatening exacerbations
Estimated survival <2years 
Other- recurrent pneumonia, recurrent severe haemoptysis
52
Q

What % of pateints die on the waiting list ?

A

30-40%

53
Q

What are the absolute contraindications to lung transplant ?

A 
Other organ failure
Malignancy within 5 year 
Significant peripheral vascular disease 
Drug, nicotine, alcohol dependency 
Active systemic infection
Microbiological issues
54
Q

What is the median age of survival in CF ?

A

40 years

55
Q

What is end of life care in CF ?

A 
Oxygen and NIV
Exercise
Support- physical, mental, social, financial, alternative therapies
Advanced care plans
DNAR discussions

Respiratory block (38 decks)

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