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Respiratory Block > Cystic fibrosis > Flashcards

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
Q

Name the 2 categories of GI manifestations

A

Dysmotility

co existent disease

26
Q

Name 2 co existent GI manifestations

A

crohns disease

coeliac disease

27
Q

Name 3 other manifestations of CF

A

diabetes
polyps
bone - osteopenia

28
Q

What does treatment slow the decline of?

A

Lung function

29
Q

What is the estimated survival of someone born with CF in 2000?

A

> 40 years

30
Q

What does the mutation in CFTR do to bacteria and clearance?

A

reduces mucociliary clearance increasing the numbers of bacteria and adherence but with less endocytosis

31
Q

How can CFTR abnormality lead to bronchiectasis?

A

Bacteria colonises and causes inflammation and airway damage

32
Q

What is survival related to in CF?

A

FEV1

33
Q

Name the role of the bacteria in life expectancy in CF patients

A

once colonised undergoes mucoid change and becomes resistant decreasing life by about 10 years

34
Q

Name places where serious CF complicating bacteria may be acquired from

A

environment - hospital

other CF patients

35
Q

What does burkholderia cepacia cause?

A

onion rot

36
Q

By how many years does burkholderia cepacia reduce life expectancy?

A

About 20 years

37
Q

What does stenotrophomonas maltophilia usually follow?

A

pseudomonas

38
Q

What is mycobacterium abscessus a contraindication for?

A

transplantation

39
Q

How should recurrent respiratory infections be treated?

A

Antibiotics - either orally or IV

40
Q

What is ivacaftor?

A

First of new class of drug addressing the primary defect in CF

41
Q

What does ivacaftor do?

A

Binds to CFTR and improves chloride ion transport

42
Q

What patients does ivacaftor only work on?

A

People with the celtic mutation

About 5-10%

43
Q

List some positives and negatives of ivacaftor

A

Improves lung function
weight gain and reduces sweat chloride and overall feel a lot better and normal
Very expensive - £180000 pa

44
Q

Why must a lung transplant be a double lung transplant for people with CF?

A

Otherwise the healthy lung would just be affected by the other lung

45
Q

What are some indications someone is ready for a lung transplant?

A

Rapidly deteriorating lung function

FEV1<30%

46
Q

What percentage of patients die on the waiting list?

A

30-40%

47
Q

What is the 5 year survival after lung transplantation?

A

70-80%

48
Q

What year was the adult CF clinic first set up?

A

1993

49
Q

Name some professionals found in a multidisciplinary team for treating CF patients

A

nurses, consultants, physio, microbiologist, pharmacist, diabetic and GI team, dieticians and nutritionists

50
Q

Does CF have an effect on sexual function in men or women?

A

No

51
Q

Can puberty occur later?

A

Possibly

52
Q

About what percentage of males are infertile?

A

95%

53
Q

What may affect chances of conception in a woman with CF?

A

Poor nutritional state

54
Q

What is the main method of conception for infertile males?

A

ICSI

55
Q

When is a CF mother most at risk in relation to birth?

A

When the baby is premature

56
Q

List some outcomes for a patient after being assessed for a lung transplant

A

too ill or well
active list
passive list

57
Q

State 3 absolute contraindications of lung transplant

A

other organ failure
cancer
drug or alcohol dependency

58
Q

State 3 relative contraindications of lung transplant

A

steroids>20mg/day
osteoporosis
low BMI

Respiratory Block (29 decks)

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