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cystic fibrosis Flashcards

1
Q

what is the genetics of CF?

A

autosomal recessive genetic condition affecting mucus glands
- Genetic mutation on cystic fibrosis transmembrane conductance regulatory on chromosome 7 CFTR

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2
Q

what is the most common mutation in CF?

A
  • Genetic mutation on cystic fibrosis transmembrane conductance regulatory on chromosome 7 CFTR
  • Most common Is delta-F508 mutation
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3
Q

what does the CFTR gene encode?

A
  • This gene encodes for cellular channels  Cl channel
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4
Q

how many people are carriers of CF?

A

1 in 25

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5
Q

how many children have CF?

A

1 in 2500

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6
Q

what does CF affect - systems?

A

pancreas
airways
fertility

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7
Q

how does CF affect pancreas?

A
  • Thick pancreatic and biliary secretions  causing blocking of ducts = lack of digestive enzymes eg pancreatic lipase in digestive tract
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8
Q

how does CF affect airways?

A
  • Low volume thick airway secretions that reduce airway clearance, resulting in bacterial colonisation and susceptibility to airway infections
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9
Q

how can CF cause infertility?

A
  • Congenital bilateral absence of vas deferens in males: have healthy sperm but sperm can not get to testes to ejaculate ad this causes male infertility
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10
Q

how may CF present?

A

newborn blood spot test
meconium ileus
can be later in childhood: recurrent LRTI, failure to thrive, pancreatitis

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11
Q

what is meconium ileus in CF ?

A
  • Meconium ileus: first sign  this is lack of first stool passing
  • Meconium is usually black and should be passed within first 24hrs
  • CF: meconium is thick and sticky and gets stuck
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12
Q

what are symptoms of CF?

A
  • Chronic cough
  • Thick sputum production
  • Recurrent resp tract infections
  • Loose, greasy stools (steatorrheoa) due to lack of fat digesting lipase enzymes
  • Abdo pain and bloating
  • Parents may report child taste salty when they kiss them  conc salt in sweat
  • Poor weight and height – failure to thrive
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13
Q

what are signs of CF?

A

– Low weight/ height on growth chart
- Nasal polpys
- Finger clubbing
- Crackles and wheeze on auscultations
- Abdo distention
- greasy pale stools

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14
Q

what can cause clubbing in children?

A

hereditary, cyanotic HD, infective endocarditis, CF, TB, inflam bowel disease, liver cirrhosis

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15
Q

how may CF be diagnosed?

A

newborn blood spot
sweat test
genetic testing

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16
Q

what is the newborn blood spot?

A

Newborn blood spot testing: all children get tested after birth  picks up most cases

17
Q

what is the sweat test?

A

Sweat test: a patch of skin is chosen to test (arm/ leg)
- Pilocarpine is applied to skin at that particular patch
- Electrodes are placed either side and small cureet is passed between electrodes – causes skin to sweat
- Sweat is absorbed with lab issued gauze/ filter paper and sent to lab for testing for CL conc

18
Q

what score on an seat test would indicate CF?

A
  • CF = >60mmol/L
19
Q

what causative organisms can colonise within airways of CF?

A

Causative organisms: staph. A, h.influenza, klebsiella, e.coli, burkhoderia cepacian and p.aeruginosa

20
Q

why is there microbial colonisation in CF?

A

Microbial colonisers: CF pt struggle to clear secretions in airways  perfect bacteria environment

21
Q

what is the issue with p. aeruginosa in CF?

A
  • Pseudomonas aeruginosa: troublesome coloniser and hard to treat and worsens prognosis of CF
  • They are resistant to many Abx  increase morbidity and mortality
  • CF pts should not meet with other CF pts as risk of spreading p.aeruginosa  need separate rooms to minimise risk of transmission
22
Q

how do you manage p. aeruginosa infections within CF patients?

A
  • Need nebulised AB eg tobramycin or oral ciprofloxacin
23
Q

what management is used in CF?

A

specialist
chest physio
exercise
high calorie diet
CREAN tablets
prophylactic fluclox
treat chest infections
bronchodilators
nebulised DNA ase (dornase)
nebulised hypertonic saline
vaccinations
end stage management

24
Q

what is chest physio used for?

A

Chest physio: several times a day to clear mucus and reduce risk of infection and colonisation

25
Q

why is exercise important in CF??

A

Exercise: improves resp function and reserve – helps clear sputum

26
Q

why is high calorie diet important within CF?

A

due to malabsorption, increased resp effort, coughing, infections and physio

27
Q

what are CREAN tablets?

A

CREAN tablets: digest fat in pts with pancreatic insufficiency  replacing missing lipase

28
Q

why are prophylactic fluclox given long term?

A

Prophylactic fluclox: reduce risk of bacterial infections eg staph.a

29
Q

why are bronchodilators eg salbutamol used in CF?

A

help with bronchoconstriction

30
Q

what are nebulised DNAase - dornase alfa?

A

Nebulised DNA ase (dornase alfa): enzyme that can break down DNA material in reps secretions, making them less viscous and easier to clear

31
Q

what vaccinations should CF pts have?

A

Vaccinations: pneumococcal, influenza, varicella

32
Q

what is part of end stage management within CF?

A

Others: lung transplant in end stage resp failure, liver transplant in Liver failre, fertility treatment involving testicular sperm extraction for infertile males, genetic counselling

33
Q

what is done within 6mth monitoring checks in CF?

A

Monitoring: need specialist clinic every 6mths
- Monitor for sputum colonisation for things like pseudomonas
- Screen for DM, osteoporosis, vitamin D deficiency, liver failure

34
Q

what is the current life expectancy of someone with CF?

A

Prognosis: depends on multiple factors including severity of symptoms, type of genetic mutation, adherence to treatment, freq of infection/ lifestyle
- Life expectancy is currently 47yrs

35
Q

what complications can arise from CF?

A
  • 90% develop pancreatic insuffiency
  • 50% develop CF related DM and then need insulin
  • 30% of adults with CF develop liver disease
  • Most males are infertile due to absent vas deferens
36
Q
A

paeds (10 decks)

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