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Respiratory HQ > Cystic Fibrosis > Flashcards

Cystic Fibrosis Flashcards

1
Q

What is the prevalence of CF in the population

A
  • 1 in 25 are carriers
  • autosomal recessive inheritance
  • therefore 1 in 2500 have CF
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2
Q

Mutation in what gene causes CF

A

CFTR

cystic fibrosis transmembrane conductance membrane

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3
Q

What is the most common mutation in the CFTR gene

A

phe508del (deltaF508)

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4
Q

What is the physiological function of the CFTR gene

A
  • active transport channel for chloride
  • regulated liquid/mucus volume on epithelial surface by causing less chloride to go in and more sodium to go into the cell
  • maintains the function cilia
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5
Q

What happens to mucus/epithelium/cilia in CF

A
  • mucus builds up
  • cilia collapse
  • inflammation occurs due to static mucus
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6
Q

Describe the 5 grades of CFTR mutation

A 
1 = no synthesis of protein to make the channels
*2 = no maturation in the Golgi apparatus of the protein
3 = regulation slightly blocked, channel doesn't funtion properly
4 = decreased ability of channel to conduct
5 = decreased abundance of CFTR channels
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7
Q

How can CF be detected in the unborn child

A
  • CVS (chorionic villus sampling)

- echogenic bowel (appears brighter than usual on ultrasound)

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8
Q

How can CF be detected in neonates

A
  • screening

- meconium ileus (obstruction of terminal ileum)

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9
Q

How can CF be detected in infants and young children

A
  • recurrent chest infections

- failure to thrive

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10
Q

How can CF be detected in older children and adults

A

recurrent chest infections

  • nasal polyps and sinusitis
  • male infertility
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11
Q

Describe the process of screening for CF in neonates

A
  • Guthrie test
  • screen for immunoreactive trypsinogen (high in CF)
  • screen for sodium levels in sweat (high in CF)
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12
Q

What aspect of life does screening to CF most benefit, according the studies

A

Nutrition

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13
Q

What are the two cardinal features of CF

A
  • pancreatic insufficiency

- recurrent bronchopulmonary infection

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14
Q

What are the features of pancreatic insufficiency

A
  • abnormal stools (pale, offensive, greasy)
  • failure to thrive
  • unable to produce lipases in order to breakdown fats in food/milk
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15
Q

How is pancreatic insufficiency treated

A
  • enzyme/mineral/vitamen supplements
  • high energy diet
  • proton pump inhibitors to aid enzyme delivery to the small bowel
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16
Q

What are the features of recurrent brochopulmonary infection

A
  • pneumonitis
  • bronchiectasis
  • scarring
  • abscesses
17
Q

How are recurrent respiratory tract infections in CF treated

A
  • segregation from other CF patients
  • airway clearance
  • mucolytics to break down mucus
  • prophylactic antibiotics
  • annual flu jab
18
Q

Name four common organisms in infection of CF patients

A
  • staph aureus and h influenzae high in early life
  • pseudomons aeruginosa in later life
  • also burkholderia cepacia, stenotrophomonas maltophilia and mycobacterium abscessus
19
Q

Give examples of other manifestations of CF

A
  • GI dysmotility
  • co-existent Crohn’s or coeliac disease
  • hepatopathy (liver disease)
20
Q

How does CF give rise to recurrent bacterial infection (vicious cycle)

A
  • decreased clearance and bacteria endocytosis and increased bacterial adherance give rise to bacterial colonisation
  • bacterial colonisation gives rise to inflammation, mucus plugging and airway ulceration and damage
  • this gives rise to bronchiectasis, which decreases clearance etc….
21
Q

What is survival in CF directly linked to

A

FEV1

22
Q

What are the main clinical features of CF

A
  • airflow obstruction
  • increasing exertional dyspnoea
  • bronchodialtor use
  • type 1/2 respiratory failure
  • haemoptysis
  • pneumothorax
23
Q

Describe pseudomonas aeruginosa infection in CF

A
  • colonisation increases with age
  • acquired from environment or other CF patients
  • forms a biolfilm and colonises inside it
  • makes it resistant to antibiotics and host defenses
  • attempt eradication with nebulised colomycin and oral ciprofloxacin or IV ceftazidime
24
Q

Describe burkholderia cepacia infection in CF

A
  • acquired from environment or other CF patients
  • colonisation associated with decreased life expectancy of up to 20 years
  • rapid decline in lung function
  • resistant
  • contraindication for transplant
25
Q

Describe mycobacterium abscessus infection in CF

A
  • rapidly increasing in the UK
  • resistant
  • contraindication for transplant
26
Q

Infections with what bacteria are oral antibiotics used against

A
  • staph a
  • h flu
  • pneumococcus
27
Q

Infections with what bacteria are IV antibiotics used against

A
  • pseudomonas
  • stenotrophomonas
  • burkholderia
28
Q

Combinations of what types of antibiotics are usually used

A

beta lactams and aminoglycosides

29
Q

What mutation in CF does Ivacaftor address

A

G551D (Celtic mutation)

30
Q

How does Ivacaftor impact on the lives of CF patients

A
  • improves lung function
  • weight gain
  • reduces chloride levels in sweat
  • generally feel better
31
Q

Give three further issues associated with CF

A
  • fertility
  • transplantation
  • end of life
32
Q

Give examples of people who work on the multidisciplinary team in a CF clinic

A
  • diabetic experts
  • GI experts
  • community nurses
  • genetic experts
  • nutrition nurse
  • GP
  • radiologists
  • obstetricians
  • gynaecologists
33
Q

What effect does CF have on sexual function in men and women

A

No effect

34
Q

What effect does CF have on fertility in men and women

A

Men - infertile (blocked/absent vas deferens)

Women - fertile but nutrition is important

35
Q

What is ICSI

A
  • intra-cytoplasmic sperm injection

- directly inject sperm into egg

36
Q

What are the issues associated with lung transplants in CF

A
  • last resort treatment

- not a miracle cure

37
Q

Explain the criteria to be met in order to be considered for a lung transplant

A
  • FEV1 below 30% predicted
  • lots of weight loss
  • hypoxia at rest
  • hypercapnia (CO2 retention)
  • recurrent sepsis
  • worsening quality of life
38
Q

What are the contraindications associated with lung transplants

A
  • other organ failure
  • malignancy within 5 years
  • peripheral vascular disease
  • drug/alcohol/cigarette dependency
  • active infection with m abscessus or burkholderia
39
Q

Be aware of end of life issues

A

Don’t just keep treating the patient in the hope of donor lungs becoming available

Active treatment vs palliative care

Respiratory HQ (26 decks)

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