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2. Respiratory Medicine (Lectures) > Cystic Fibrosis 3 > Flashcards

Cystic Fibrosis 3 Flashcards

1
Q

What is the most common autosomal recessive disorder in caucasians?

A

Cystic fibrosis

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2
Q

How many people have the CF gene?

A

1:25

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3
Q

How many people suffer from CF?

A

1:2500

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4
Q

Why has survival of CF gotten better?

A

CF centres

MDT teams

Physio

Nutrition/enzymes

Antibiotics

Aggressive approaches

Annual flu vaccine

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5
Q

What is the life expectancy for someone with CF?

A

37 years

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6
Q

Where is the CF gene located?

A

Chromosome 7

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7
Q

What does a mutation of the transmembrane conductance regulator protein cause?

A

Abnormal transport of chloride and sodium across epithelium

Reduced chloride secretion from epithelium

Reduced sodium absorption form lumen

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8
Q

What does a mutation of the CF gene lead to?

A

Thick secretions and impaired bacterial killing via neutrophils as normal chloride is required

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9
Q

What is the heterozygous advantage of CF?

A

Mice resistant to salmonella and cholera toxin

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10
Q

How many classes of mutations of the CF gene are there?

A

6

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11
Q

What percentage of CFTR function do you need to have sufficient pancreatic function and be asymptomatic?

A

5%

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12
Q

What are some challenges for patients with CF?

A

Transition

Prognosis

Promise of new drugs

Possibility of lung transplant

Other conditions

Media/social media pressures

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13
Q

What are some other conditions that can co-incide with CF?

A

Diabetes

Liver disease

Osteoporosis

Fertility issues

Haemoptysis

Mental health issues

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14
Q

What are the presentations of CF in adults?

A

Infertility in men

Bronchiectasis

Recurrent infections

Hyperinflation

Clubbing

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15
Q

What does CF lead to pulmonary infection?

A

Decrease in mucociliary clearance

Increase in bacterial adherence

Decrease in endocytosis of bacteria

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16
Q

What are some respiratory problems that CF can cause?

A

Progressive bronchiectasis

Recurrent lower respiratory tract infections

Progressive airflow obstruction

Respiratory failure

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17
Q

How is diabetes associated with CF?

A

Type 1 rarely seen

Type 2 often preceded for years by falling lung function

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18
Q

What issues coming with being diabetic and having CF?

A

Compliance with diet

Low sugar/high fibre diet not appropriate

OGTT/HbA1c used but not perfect

Insulin of benefit, but not so much oral hypoglycaemics

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19
Q

What does OGTT stand up for?

A

Glucose tolerance test

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20
Q

What does HbA1c stand up for?

A

Average blood glucose levels for the last 2 to 3 months

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21
Q

What is osteoporosis?

A

Condition that weakens the bones, making them fragile and more likely to break

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22
Q

What is a condition that weakens the bones, making them more fragile and likely to break called?

A

Osteoporosis

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23
Q

How does osteoporosis affect bone remodelling?

A

Slower gain, faster loss

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24
Q

What may osteoporosis exclude?

A

Lung transplant

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25
What could osteoporosis occur due to?
Malnutrition and low BMI Steroids Delayed puberty and hypogonadism Inflammatory cytokines from sepsis Vitamin D/K deficiency Drugs
26
What vitamin deficiency can lead to osteoporosis?
Vitamin D and K
27
What does BMD stand up for?
Bone mineral density
28
What are predictors of a low bone mineral density (BMD)?
Low FEV1 Steroids Low BMI Low exercise Age Male Diabetes Vitamin D Delayed puberty
29
What percentage of CF patients get a pneumothorax in their life?
3-4%
30
How many CF patients are older than 18 years old?
50%
31
What is the chance of a pneumothorax reoccurance for CF patients?
50%
32
What is the treatment for CF patients with a pneumothorax?
Same as normal (drain, pleurodesis, surgery)
33
What is haemoptysis?
Coughing up blood
34
What is coughing up blood called?
Haemoptysis
35
Why does haemoptysis occur?
Bronchial wall destruction
36
What are the risk factors of haemoptysis?
Severity Exacerbations Fungal Liver disease Vitamin K deficiency
37
How do the typical types of bacteria that cause infections change with age?
Different ones cause a greater proportion at different ages
38
How does colonisation of pseudonomas aerugosa change with age?
Colonisation increases with age
39
Where is pseudonomas aeruginosa acquired from?
Environment (particularly hospitals) Other CF patients Segregation and disinfection policies
40
What is colonisation of pseudonomas aeruginosa associated with?
Reduced life expectancy (28 years) Rapid decline in lung function
41
What can be said about pseudonomas aeruginosa and antibiotic resistance?
Rapidly acquired antibiotic resistance
42
What is the life expectancy of someone with CF who has a colonisation of pseudonomas aeruginosa?
28 years
43
What does pseudonomas aeruginosa produce?
Toxins that destroy bronchial epithelium
44
Where is burkholderia cepacia acquired from?
Environment Other CF patients Segregation policies
45
What is colonisation of burkholderia cepacia associated with?
Reduced life expectancy (16 years) Rapid decline in lung function Do worse in pregnancy
46
What is the life expectancy of someone with CF and a colonisation of burkholderia cepacia?
16 years
47
What can be said about burkholderia cepacia and antibiotic resistance?
Innate resistance to most antibiotics
48
When does colonisation of sternotrophonas maltophilia occur?
Usually after pseudomonas but can occur as first gram negative infection
49
What can be said about sternotrophonas maltophila and antibiotic resistance?
Multiple antibiotic resistance
50
How does sternothrophonas maltophilia affect the CF prognosis?
Unsure if detrimental to prognosis
51
Where is aspergillus acquired from?
The environment not person to person
52
What percentage of CF patients is atypical mycobacterium?
13%
53
What is the most common atypical mycobacterium found in CF patients?
Mycobacterium abscessus (75% of mycobacterium)
54
When should atypical mycobacterium be treated?
If clinical/lung function/chest X-ray deteriation
55
What can be said about transplanation for patients with mycobacterium abscessus?
Conta-indication
56
What does eradication of mycobacterium abscessus require?
1 month in the hospital then maintenance treatment for 1 year which has side effects and can lead to failure
57
What is involved in the management of a pulmonary infection?
Treat early and aggresively with antibiotics Oral antibiotics (staph, haemophillus, pneumococcus) IV antibiotics (strenotrophomonas, burkholderia)
58
For what organisms should oral antibiotics be used for pulmonary infections?
Staph, haemophilus, pneumococcus
59
For what organisms should IV antibiotics be used for pulmonary infections?
Stenotrophomonas, burkholderia
60
What should be done if the organisms causing a pulmonary infection are multiple resistant?
Test for synergy between antibiotics
61
Why do some CF patients use bronchodilators?
They have an airway obstruction
62
Why might CF patients have an airway obstruction?
Asthma/atopy Mechanical (bronchhial plugging, inflammation)
63
What is airway clearance done by?
Chest physio
64
What does chest physio involve?
Autogenic drainage Active cycle of breathing Huffing Airway oscillating devices (PEP device) Percusion vests
65
What are mucolytics?
Drugs that reduce viscocity of phelgm
66
What are drugs that reduced viscosity of phelgm called?
Mucolytics
67
What are examples of mucolytics?
Pulmozyme Hypertonic saline Carbocysteine Bronchitol
68
What effects does azithromycin have?
Anti-inflammatory and antibacterial
69
What does treatment with azithromycin do?
Increases lung function Decreases lung decline Decreases exacerbation rate
70
What are new drugs for CF called?
Potentiates and correctors
71
What do potentiates and correctors do?
Address different processes in CFTR production, processing, folding, transport and insertion into the membrane
72
What can you say about the price of potentiates and correctors?
They are very expensive, with some costing more than £100,000 per year per patient
73
What are examples of potentiates and correctors?
Ivacaftor Ivacaftor/lumbacaftor (orkambi) Tezacaftor/ivacaftor (syndeco)
74
What is orkambi a combination of?
Ivacaftor/lumbacaftor
75
What is syndeco a combination of?
Tazacaftor/ivacaftor
76
What are indications for lung transplantation?
Rapidly deteriorating lung function FEV1 \< 30% predicted Life threatening exacerbations Estimated survival \< 2 years
77
How many people die on the waiting list for a lung transplant?
30-40%
78
How many people survive 5 years after a double lung transplant?
70-80%
79
How many people survive more than 10 years after a double lung transplant?
50%
80
What are things that can improve quality of life?
Lung transplant Oxygen Exercise Support Advanced care planning

2. Respiratory Medicine (Lectures) (50 decks)

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