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ZA - Respiratory Diseases > Cystic Fibrosis > Flashcards

Cystic Fibrosis Flashcards

1
Q

What is the pattern of inheritance of CF and what is the prevalence?

A

Autosomal recessive

1:25

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2
Q

Where is the CFTR gene found?

A

Long arm of chromosome 7

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3
Q

What is the most common mutation?

A

phe508del

DeltaF508

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4
Q

Function of CFTR?

A

Active transport for chloride

Regulates liquid volume on epithelial surface

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5
Q

Why does the mutation render patient more susceptible to bacterial colonisation and infections?

A

Abnormality leads to:

Reduced mucocilliary clearance, endocytosis of bacteria

Increased bacterial adherence

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6
Q

Why is CF a multisystem issue?

A

Chlorine is used all over body

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7
Q

How are neonatal’s diagnosed?

A

Screening

Rare - Meconium Illeus - content of babies bowel is very sticky

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8
Q

What is some common symptoms??

A 
Recurrent chest infections
Cough -  sputum and haemoptysis 
Wheeze
Failure to thrive
Onset diabetes
Weight loss
Nasal polyps and sinusitis 
Male infertility
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9
Q

Some signs of CF?

A

Cyanosis
Clubbing
Crackles

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10
Q

How are neonates screened for CF?

A

Guthrie test for day 5 babies, a heel-pin test
Looks for immunoreactive trypsinogen and if positive:

Do a mutation analysis test and sweat chlorine test

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11
Q

What does a sweat test look for?

A

High chlorine

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12
Q

Other investigations that can be done?

A

Pulmonary function tests

CxR - over inflated lungs

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13
Q

What is the 2 cardinal features of CF?

A

Pancreatic insufficiency

Recurrent infections

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14
Q

Impact of pancreatic insufficiency?

A

Don’t produce lipases causing abnormal stools - pale/orange, greasy and offensive

Failure to thrive off breast milk
May have deficiencies of fat soluble vitamins (A, D, E, K)

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15
Q

Treatment for pancreatic insufficiency?

A
  • Enteric coated enzyme pellets
  • High energy high fat diet
  • ADEK vitamin and mineral supplements
  • H2 antagonist or proton pump inhibitors*
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16
Q

Results of recurrent infections?

A
  • Bronchiectasis
  • Pneumonitis
  • Scarring
  • Abscesses
17
Q

What is done to try to stop frequency of recurrent infections?

A
  • Segregation to prevent cross-infection
  • Airway clearance
  • Mucolytics
  • Prophylactic antibiotics (against Staph aureus)
  • Annual flu vaccination
18
Q

What are the common pathogens causing re-current infections?

A

Staph aureus

H.Influenza in early years

Pseudomonas aeruginosa later years

19
Q

What are some less common pathogens causing re-current infections?

A

Burkholderia cepacia

Stenotrophomonas maltophilia

20
Q

Why does pseudomonas aeruginosa infect CF patients easier?

A

CFTR usually plays a role in endocytosis and destruction of this bacteria

21
Q

What increases the colonisation rate of pseudomonas aeruginosa ?

A

Age possibly due to increased antibiotic use

22
Q

What protects pseudomonas aeruginosa once colonised?

A

The bacteria undergoes a mucoid change and forms a biofilm in which microcolonies emerge.

Biofilm protects it and colonies from host defenced

23
Q

Where is pseudomonas aeruginosa acquired from?

A

Environment

Other CF patients

24
Q

Treatment of a pseudomonas aeruginosa infection?

A

1st step oral ciprofloxacin and nebulised colomycin

2nd step if 1st fails is IV cleftazidime and nebulised colomycin

25
Q

Where is burkholderia cepacia gotten from?

A

Environment

Other CF patients

26
Q

What is the effects of Burkholderia cepacia colonisation?

A

Reduced lung function
Reduced life expectancy
Cepacia syndrome

27
Q

What makes management of Burkholderia cepacia infection difficult?

A

Resistant to most antibiotics

Transplant is an option but Burkholderia cepacia genomovar 3 bacteria is contraindicated with transplants

28
Q

Features of sternotrophomonas maltophilia

A

Frequent colonisations

Usually comes after a pseudomonas infection

Is resistant to multiple antibiotics

29
Q

Features of mycobacterium abscessus?

A

Resistant to all anti-Tb therapy
Use azithromycin to eradicate
Contraindicated for transplants

30
Q

What is the overall general treatment plan for recurrent infections?

A

Treat early and aggressively

Oral antibiotics for staph, haemophilus and pneumococcus

IV antibiotics for pseudomonas, stenotrophomonas, Burkholderia

Use 2 antibiotics due to drug resistance

Anti-inflammatory’s

Prednisolone

31
Q

What is Ivacaftor?

A

New class of drug that binds to CFTR and improves transport of chlorine ions

Improves lung function and weigh gain
Reduces chlorine in sweat
Makes patient feel better

32
Q

Problems with Ivacaftor?

A

Only works in 10% of patients - those with G551D (?)

Very expensive

ZA - Respiratory Diseases (30 decks)

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