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1ST YEAR SYSTEMS: Respiratory > Cystic Fibrosis > Flashcards

Cystic Fibrosis Flashcards

1
Q

what is cystic fibrosis (CF)

A

genetic disorder that affects mostly the lungs. Long-term issues: difficulty breathing and coughing up mucus as a result of frequent lung infections.
- common

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2
Q

What type of inherited condition is CF

A

autosomal recessive

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3
Q

What is the gene prevalence of CF? ie what is a person’s chance of having CF?

A

1:25

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4
Q

how many CFTR mutation classes are there

A

6

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5
Q

what fertility issues exist with CF in males

A

> 95% males infertile - blocked/absence of vas deferens (ducts that carry sperm before ejaculation)

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6
Q

what fertility issues exist with CF in females

A

may affect chances of conception even though they may have poor nutrition anyways

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7
Q

CF has no effect on _____ in males and women

A

sexual function

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8
Q

Intra-cytoplasmic sperm injection

A

intra-cytoplasmic sperm injection ICSI (single sperm cell is injected directly into the cytoplasm of an egg)

  • only 25-30% success rate
  • 3 attempts on the NHS
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9
Q

female fertility issues that need to be considered before trying through NHS (3)

A

screening of partner
counselling re long term impact of condition on family
need optimum health (lung function / weight)

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10
Q

does pregnancy affect the survival of women with CF

A

low numbers found in research/studies

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11
Q

what are some issues with lung transplantation?

A

it is the last resort treatment option- when things turn really bad
it doesn’t always work
no lung transplant centers in Scotland- have to travel to Newcastle

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12
Q

what is the criteria used to determine when patients require a transplant (6)

A 
if their FEV1 is <30% 
weight loss
hypoxia at rest or O2 levels dropping during exercise
high CO2 levels
recurrent worsening sepsis
worsening QOL
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13
Q

what 5 categories/outcomes are possible for CF patients after team discussion about lung transplant possibility

A

put on active list - need transplant urgently

passive list- not emergency but probably require in future

too well

patient decides they don’t want to go through with it
team decide not to put patient on it

too ill - won’t cope with big surgery

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14
Q

what new list is there in the last 18 months or so within the NHS regarding lung transplant

A

ultra-urgent list - can be as quick as 24 hours

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15
Q

name some absolute contra-indications (reasons against) to transplant (6)

A

Other organ failure

Malignancy within 5 years

Significant peripheral vascular disease

Drug, nicotine, alcohol dependency - Newcastle won’t see anyone who has been smoking in the last 6 months

Active systemic infection

Microbiological issues (eg. M. abscessus- big worry)

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16
Q

which organism causing infection is worrying at the moment

A

M. abscessus - rapidly growing, multidrug-resistant NTM species that are found in soil and water

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17
Q

relative contra-indications to transplant? 2 or 3 needed to not go ahead with transplant (6)

A

Other organ dysfunction

Non-compliance
Steroids >20mg daily

Absence of recognised social support

Osteoporosis

Low BMI - anyone <18 won’t get transplant in Newcastle

Surgical risks (previous thoracic surgery)

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18
Q

what is the most common CFTR mutation class

A

dF508 70% N. europeans have this

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19
Q

what happens in class 1 CFTR mutations

A

synthesis of MRNA does not occur so no functional CFTR protein is made. This is due to non-sense mutation

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20
Q

what happens in class 2 CFTR mutations

A

CFTR protein is created, but misfolds, keeping it from

moving to the cell surface.

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21
Q

what is the normal function of CFTR protein

A

CFTR protein is created, moves to the cell surface and

allows transfer of chloride and water.

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22
Q

what happens in class 3 CFTR mutations

A

channel gate doesn’t open so no movement of water or Cl- ions

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23
Q

What happens in class 5 CFTR mutations

A

Normal CFTR protein is created and moves to the

cell surface, but there’s just not enough of it to function

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24
Q

What happens in class 4 CFTR mutations

A

CFTR protein is created and moves to the cell surface, but the function of the channel is faulty

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25
Q

in what ways can CFTR function be affected

A

if the movement of Cl- out of the cell is reduced then there can be a change in the concentration of fluid that bathes the cilia. Any change in this concentration or volume even can lead to cilial collapse, thick, sticky mucus or excessive inflammation

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26
Q

describe Cl- and Na+ movement when CFTR is mutated

A

Cl- efflux decreases

more Na+ is taken into the cell

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27
Q

how does cilial collapse lead to infection

A

the thick,sticky mucus that is no longer being beaten away starts to trap organisms this leads to recruitment of neutrophils and excessive DNA due to apoptosis performed by these neutrophils

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28
Q

how is CF picked up early in patients

A

through neonatal screening

29
Q

what is the Guthrie test

A

newborn bloodspot at day 5 - can sometimes falsely diagnose or miss diagnosis however so not used on its own

30
Q

describe what the chloride sweat test is

A

a neonatal screening technique for CF

the amount of chloride in sweat is measured and those with CF may have 2-5 times the norm amount of Cl-

31
Q

key points of the UK CF screening algorithm

A

if no mutations are detected then you reanalyse

if one mutation is detected then after DNA analysis it could open up to other mutations

if two mutations are detected then you refer with presumptive diagnosis of CF

32
Q

in what 2 situations can a positive screen result lead to an inconclusive diagnosis

A

if you have a norm Cl- with 2 CFTR mutations (on has unclear phenotypic consequences)

intermediate sweat chloride with 1 or no CFTR mutations - don’t know how they will turn out - some may develop CF some may not

33
Q

what antenatal screening is carried out following identification of CF patient during pregnancy?

A

Pre-implantation genetic diagnosis - checking the genes or chromosomes of your embryos for a specific genetic condition

Chorionic villus sampling - sample of placenta to check if your baby has a genetic or chromosomal condition

Amniocentesis - sample of amniotic fluid to check if baby has genetic or chromosomal condition

then check any siblings to see if they have genetic condition

34
Q

Management of CF

A

Specialist multi-disciplinary team due to multi-organ disease
Shared care with local clinics
Primary care - not as much involvement with GP because the vast doctor specialties required cannot be provided
Surveillance
Early treatment of infection

35
Q

what are the 2 cardinal features of CF

A

pancreatic insufficiency (85-90%) - unable to break down food - abnormal stools - pancreas becomes fibrotic

recurrent bronchopulmonary infection
e.g pneumonitis, bronchiectasis, scarring, abscesses

36
Q

abnormal stool signs

A

pale or orange
foul smell
greasy or oily

37
Q

how is pancreatic insufficiency treated

A

enteric coated enzyme pellets (coated to avoid destruction in the stomach)

high energy diet

fat-soluble vitamin and mineral supplements

38
Q

what is pancreatic insufficiency

A

inability of the pancreas to produce and/or transport enough digestive enzymes to break down food in the intestine and facilitate absorption of nutrients.

39
Q

CF and failure to thrive

A

may thrive quite well on breast milk as it’s better than normal milk. May have deficiencies of fat soluble vitamins

40
Q

describe the vicious cycle of CF

A

mucus obstruction inflammation (cilia collapsing) leads to infection (chronic)
this leads to more inflammation and then results in fibrosis, scarring and bronchiectasis

41
Q

what therapeutic targets are used to prevent mucus obstruction inflammation

A

airway clearance physiotherapy -

dornase alfa - inhaled drug that breaks up DNA produced by neutrophils in the airways

hypertonic saline

42
Q

how does hypertonic saline reduce mucus

A

it increases the amount of Na+Cl- in the airways. The salt brings water into the airways, which thins the mucus, making it easier to cough out.

43
Q

what is used to treat increased inflammation due to the infection brought about from mucus obstruction?

A

azithromycin - an anti-inflammatory antibiotic

44
Q

what main common organisms that cause infection in patients with CF (N.B. chronic condition means they’re prone to infection)

A

staph aureus and haemophilus influenzae - LRTI

pseuodmonas aeruginosa - most prevelant in adult years

45
Q

less common organisms that cause infection in patients with CF

A

burkholderia cepacia

MRSA

46
Q

ivacaftor CFTR modulator

A 
helps people with CF who have class 3 gating mutations. 
- It binds to the defective protein at the cell surface and opens the chloride channel (holds the gate open) so that chloride can flow through, regulating the amount of water at the surface of the cell.
47
Q

social, educational and economic impact on child and family

A

SOCIAL

  • Barriers to making friends (seen as “different”) due to cough, missing school, different dietary requirement, taking “drugs”
  • Increased depression/anxiety
  • Low adherence to time-consuming treatments
  • Hard on child if comparing with healthy siblings
  • Increased costs to the family
  • Time off work/Hospital attendances
  • Financial benefits
48
Q

why has treatment/management of CF gotten better? (6)

A 
CF centres
MDT teams
Physio
Nutrition/Enzymes
Antibiotics
Aggressive approaches
49
Q

where is the CF gene?

A

on the long arm of chromosome 7

50
Q

in which CFTR mutation classes is pancreatic insufficiency more common

A

Class 1, 2 and 3

51
Q

what are the challenges for adults with CF

A

Transition - new MDT- adult is a bigger pool of people
prognosis
promise of new drugs
possibility of lung transplant
other conditions can develop- comorbidities arise

52
Q

how do adults with CF present in clinic (5)

A 
infertility 
bronchiectasis
mild resp symptoms/recurrent LRTI (40%)
hyperinflation 
clubbing
53
Q

give examples of some other complications/conditions that CF can cause in the body due to being a multi-system disease (8)

A 
diabetes 
haemoptysis
pneumothorax
osteoporosis
male infertility 
pregnancy
pancreatic insufficiency
mec ileus - bowel obstruction
54
Q

signs of CF in CT scans (4)

A

tramlines - dilated bronchial airways
signet rings - thickened bronchi walls
mucus plugging
consolidation

55
Q

CF and type 2 diabetes

A

often see CF patients with type 2 diabetes due to certain issues

56
Q

osteoporosis and CF

A

significant reduction in bone mass density in 1/3 CF patients and this may exclude you from being allowed a lung transplant
- in CF sometimes fail to reach peak bone mass in childhood and adolescence and then have accelerated bone loss in adulthood

  • can occur due to malnutrition, steroids, delayed puberty, vit D/K defic
57
Q

pneumothorax and CF patients

A

3-4% CF patients during lifetime
older you get, more severe obstructive lung disease
treatment same = chest drain, pleurodesis (mildly irritant drug into the space between your lung and chest wall), surgery

58
Q

psuedomonas aeroginosa:

where are they acquired?

A

acquired from environment, other CF patients, segregation and disinfection policies

can cause reduced life expectancy
rapid decline in lung function

59
Q

how does pseudomonas aeroginosa grow antibiotic resistance?

A

produces biofilm around toxins that antibiotics or macrophages cannot penetrate

60
Q

non TB mycobacteria in CF

A

MAI, abscessus

61
Q

mycobacterium abscessus

A

highly resistant
contraindication for transplantation
1 month in hospital then maintenance treatment for 1 year

62
Q

how is pulmonary infection managed?

A

Treat early and aggressively with antibiotics

Oral antibiotics (eg Staph, Haemophilus, Pneumococcus)

IV antibiotics (eg PA, Stenotrophomonas, Burkholderia)

If multiply resistant, test for synergy between antibiotics

Large doses (increase volume distribution, increased clearance)

Two week courses

Indwelling subcutaneous ports (vascuports)

63
Q

how much of a drug is lost using nebulised jet drug

A

about 50%

64
Q

why might CF patients need bronchodilators for airway obstruction?

A

asthma/atopy
- Bronchial Hyper Reactivity in 40% CF patients

bronchial plugging, inflammation - bronchial wall thickening

65
Q

chest physio

A

autogenic drainage, active cycle of breathing, huffing

airway oscillating devices (PEP- mask that helps you breath better)

66
Q

mucolytics: function and examples

A

reduce viscosity of phlegm making it easier to cough it up

pulmozyme
hypertonic saline
bronchitol

67
Q

how does azithromycin work as anti-inflammatory drug

A

it reduces biofilms produced by bacteria

68
Q

ways of improving quality of life of CF patient

A

double lung transplant

oxygen and non-invasive ventilation
exercise
support
advanced care planning
DNAR - do not attempt resus

1ST YEAR SYSTEMS: Respiratory (38 decks)

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