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Cystic fibrosis Flashcards

1
Q

What populations is CF the most common?

A

Northern Europeans

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2
Q

How is CF inherited?

A

autosomal recessive

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3
Q

What is the gene prevalence of CF?

A

1 in 25

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4
Q

What ratio of people suffer from CF?

A

1 in 2500

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5
Q

What is the name of the cystic fibrosis gene?

A

CFTR

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6
Q

About how many mutations of the CFTR gene are there and how many of these are CF associated

A

> 1800

about 30

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7
Q

What can different mutations of the CFTR gene result in?

A

Different phenotype of disease

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8
Q

What is the most common mutation of the CFTR gene affecting 70% NE?

A

delta F508

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9
Q

What is the function of the gene CFTR?

A

Active transport channel for chloride

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10
Q

If the CFTR gene is mutated what can this lead to?

A

cilia collapse and excessive inflammation

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11
Q

What are some common clinical features of CF?

A

Recurrent chest infections
failure to thrive
male infertility

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12
Q

What are some less common clinical features of CF?

A

Anaemia and oedema
acute pancreatitis
vitamin deficiencies

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13
Q

What is the neonatal screening procedure for CF?

A

New born blood spot Guthrie test - day 5

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14
Q

If positive after screening what test can be done?

A

Sweat test

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15
Q

Does screening affect prognosis?

A

Yes, probably reduces infant mortality, better lung function in later years and better brain development

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16
Q

When was CF screening introduced to Scotland?

A

Scotland 2003

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17
Q

What are patients with CF stools like?

A

very pale or orange
very offensive
oily or greasy

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18
Q

What kinds of vitamins may CF patients be deficient in?

A

Fat soluble - ADEK

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19
Q

What is the usual treatment of pancreatic insufficiency?

A

Enteric coated enzyme pellets
high energy diet
vitamin supplements

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20
Q

Name 4 infections CF patients are at risk of getting

A

pneumonitis
bronchiectasis
scarring and abscesses

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21
Q

What percentage of patients suffer from pancreatic insufficiency?

A

85-90%

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22
Q

Pre infection includes what measures when it comes to RTI’s?

A

airway clearance
mucolytics
antibiotics and vaccines

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23
Q

What are common respiratory pathogens?

A

staph aureus and H influenza

pseudomonas later on

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24
Q

What are the treatment measures when it comes to chronic intermediate infections?

A

Suppress bacterial load
reduce inflammation
treat infective exacerbations

25
Name the 2 categories of GI manifestations
Dysmotility | co existent disease
26
Name 2 co existent GI manifestations
crohns disease | coeliac disease
27
Name 3 other manifestations of CF
diabetes polyps bone - osteopenia
28
What does treatment slow the decline of?
Lung function
29
What is the estimated survival of someone born with CF in 2000?
>40 years
30
What does the mutation in CFTR do to bacteria and clearance?
reduces mucociliary clearance increasing the numbers of bacteria and adherence but with less endocytosis
31
How can CFTR abnormality lead to bronchiectasis?
Bacteria colonises and causes inflammation and airway damage
32
What is survival related to in CF?
FEV1
33
Name the role of the bacteria in life expectancy in CF patients
once colonised undergoes mucoid change and becomes resistant decreasing life by about 10 years
34
Name places where serious CF complicating bacteria may be acquired from
environment - hospital | other CF patients
35
What does burkholderia cepacia cause?
onion rot
36
By how many years does burkholderia cepacia reduce life expectancy?
About 20 years
37
What does stenotrophomonas maltophilia usually follow?
pseudomonas
38
What is mycobacterium abscessus a contraindication for?
transplantation
39
How should recurrent respiratory infections be treated?
Antibiotics - either orally or IV
40
What is ivacaftor?
First of new class of drug addressing the primary defect in CF
41
What does ivacaftor do?
Binds to CFTR and improves chloride ion transport
42
What patients does ivacaftor only work on?
People with the celtic mutation | About 5-10%
43
List some positives and negatives of ivacaftor
Improves lung function weight gain and reduces sweat chloride and overall feel a lot better and normal Very expensive - £180000 pa
44
Why must a lung transplant be a double lung transplant for people with CF?
Otherwise the healthy lung would just be affected by the other lung
45
What are some indications someone is ready for a lung transplant?
Rapidly deteriorating lung function | FEV1<30%
46
What percentage of patients die on the waiting list?
30-40%
47
What is the 5 year survival after lung transplantation?
70-80%
48
What year was the adult CF clinic first set up?
1993
49
Name some professionals found in a multidisciplinary team for treating CF patients
nurses, consultants, physio, microbiologist, pharmacist, diabetic and GI team, dieticians and nutritionists
50
Does CF have an effect on sexual function in men or women?
No
51
Can puberty occur later?
Possibly
52
About what percentage of males are infertile?
95%
53
What may affect chances of conception in a woman with CF?
Poor nutritional state
54
What is the main method of conception for infertile males?
ICSI
55
When is a CF mother most at risk in relation to birth?
When the baby is premature
56
List some outcomes for a patient after being assessed for a lung transplant
too ill or well active list passive list
57
State 3 absolute contraindications of lung transplant
other organ failure cancer drug or alcohol dependency
58
State 3 relative contraindications of lung transplant
steroids>20mg/day osteoporosis low BMI

Respiratory Block (29 decks)

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