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CF > Revision > Flashcards

Revision Flashcards

1
Q

What mutation results in CF?

A

Mutation of the CFTR (membrane protein that transports Na and Cl across the membrane)
The most common mutation is (F508) associated with recurrent bronchopulmonary infections and pancreatic insufficiency.

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2
Q

What are the two main system affected by CF and what impact/symptoms do they have?

A

Pancreatic insufficiency:

  • Failure to thrive
  • Abnormal stool

Bronchopulmonary Infections

  • Coughing
  • SOB
  • Malaise
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3
Q

What is the treatment for pancreatic insufficiency for patients with CF?

A
  • enteric coated enzyme pellets
  • H2 antagonist … or … proton pump inhibitor
  • nasogastric feeding tube
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4
Q

What is the treatment for bronchopulmonary infections in patients with CF?? pre and post infection??

A

Pre infection:

  • segregation/cohorting
  • vaccinations
  • mucolytics
  • prophylactic antibiotics

Post infection:

  • Two antibiotics (B-lactams + aminoglycoside)
  • physiotherapy
  • autogenic drainage
  • lung transplant
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5
Q

State some investigations for CF?

A

Heel prick for increased immunoreactive trysionogen (guthrie test done at day 5)

Sweat test using pilocarpine iontophoresis

CXR for fibrosis

Spirometry should be obstructive

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6
Q

State some clinical features of young children with CF?

A

Failure to thrive
Short stature
Steatorrhoea
Frequent chest infections

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7
Q

name the mutation that causes CF which can be treated with ivacaftor

A

Celtic mutation (G551D)

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8
Q

What percentage of patients have the celtic mutation ?

A

5-10%

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9
Q

what membrane protein is affected during CF?

A

Cystic Fibrosis Transmembrane conductance Regulator (CFTR)

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10
Q

what happens when the CFTR is absent or abnormal during CF?

A

less Cl ions can be released into the lumen from the cell but Na is still leaving the lumen and being taken up by the cell which consequently pulls water into the cell which makes the contents of the lumen dehydrated and very sticky and thick which is difficult to move through the lumen

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11
Q

what type of mutation is F508?

A

autosomal recessive

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12
Q

what is the gene prevalence of CF?

A

1 in 25

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13
Q

what is the incidence of CF?

A

1 in 2500

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14
Q

what chromosome does the mutation occur on?

A

q arm of chromosome 7

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15
Q

what does the expensive drug ivacaftor do?

A

improves Cl movement into lumen

reduces Cl in sweat

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16
Q

what are the three functions of CFTR?

A

regulates liquid volume in the lumen by releasing Cl into the lumen
prevents cilia collapse
prevents excessive inflammation

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17
Q

Has screening babies at birth decreased mortality?

A

no

only improves lung function and nutrition

18
Q

what are the numbers that the Cl should be under for CF to be/not to be diagnosed?

A

60 - CF diagnosis

19
Q

Name the three main bacteria that cause recurrent bronchopulmonary infections

A

Staph. aureus
Haemophilus influenza
Pseudomonas aeruginosa

20
Q

Out of the three main infective agents for bronchopulmonary infections, which is the only one that should be treated with IV antibiotics?

A

Pseudomonas aeruginosa

21
Q

out of the three infective agents, which one are you more likely to get in later life ?

A

pseudomonas aeruginosa

22
Q

where do people become infected with pseudomonas aeruginosa ?

A

shower heads, sinks

biofilm

23
Q

what are the two complications of bronchopulomnary infections?

A

haemoptyisis

pneumothorax

24
Q

name four other less common organisms which can cause a lung infection.

A

burkholderia cepacia

stenotropomonas maltophila

alcaligenes xylosoxidans

atypical mycobacteria e.g. M. abscessus

25
Q

as well as the lungs and pancreas name some other systems that are affected by CF
8

A 
GI
Liver 
Diabetes 
Bones 
Heat exhaustion 
Bilateral absence of vas deferans 
Vaginal candidiasis 
Upper airway polyps and sinusitis
26
Q

name four problems that can occur in the Gi tract due to dysmotility

A

meconium ileus
gastro- oesophageal reflux
distal intestinal obstruction
constipation/ rectal prolapse

27
Q

name two problems that can occur with the bones with CF?

A

oestopenia

arthopathy

28
Q

what are the four indications for lung transplantation?

A

rapid decline of lung function

FEV1

29
Q

What are the eight contraindications for lung transplatation?

A 
very poor lung function 
metastatic cancer 
respiratory infection 
very poor health 
low BMI 
hypoxic at rest 
alcohol/drug dependant 
non compliant
30
Q

what are the five outcomes of transplantation assessment ?

A 
active list 
passive list 
too well 
too ill 
decision not to go on list (by patient/doctors)
31
Q

what percentage of people die on the waiting list for lungs?

A

30-40%

32
Q

why are CF patients transplanted both lungs and not just one?

A

because the new lung would get infected when the patient coughed as bacteria from the native lung would enter the new lung

33
Q

what is bronchiolitis obliterans ?

A

when a transplanted lung slowly begins to break down from the immune system as the tissue is not an exact match.

34
Q

do the general public or CF patients have better survival with lung transplants

A

CF patients

35
Q

what is the 5YS for lung transplants?

A

70-80%

36
Q

what is the 10YS for lung transplants?

A

50%

37
Q

is the infertility of males and females affected due to CF?

A

males are infertile
females are fertile

the sexual function of both is not affected

38
Q

what is the treatment option for the fertility issues?

A

intra cytoplasmic sperm injection (ICSI)

  • very expensive
  • sperm injected into ovum
  • 3 attempts on NHS
39
Q

What are the end of life issues before death?

A
  • talking about deteriorating health/death is difficult

- important to be honest so patient/family can be prepared

40
Q

what are the end of life issues after death?

A
  • bereavement visits
  • others in the family may have CF
  • access to psychologist as necessary

CF (1 decks)

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