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CRRAB II - Medicine > Cystic Fibrosis > Flashcards

Cystic Fibrosis Flashcards

0
Q

What gene is indicated in CF?

A

Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene

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1
Q

What is the inheritance pattern of CF?

A

Autosomal recessive

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2
Q

What does CFTR gene code for?

A

A chloride ion channel

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3
Q

Where is CFTR on the cell?

A

Apical luminal membrane

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4
Q

What organ tissues is CFTR present?

A

Airways, pancreatic ducts, intestines, other tissues

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5
Q

What is the mean survival age of a patient with CF?

A

37.4 years

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6
Q

What is the prevalence of CF across ethnicities?

A

Caucasian: 1:2500
Hispanic: 1:9500
African American: 1:15000
Asian American: 1:32000

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7
Q

How many caucasians are carriers?

A

1:32

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8
Q

What are the five mutation classes for CF?

A 
Class 1: No protein produced
Class 2: Defective protein folding
Class 3: Defective gating or regulation
Class 4: Defective ion transport
Class 5: Normal CFTR but decreased amounts
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9
Q

What gene problem is indicated in Class 1 mutations?

A

G542X

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10
Q

What gene problem is indicated in Class 2 CF?

A

F508del

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11
Q

What gene problem is indicated in Class 3 mutations?

A

G551D

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12
Q

What is the most common CF mutation?

A

F508del (70%)

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13
Q

How much CFTR activity remains in classes 1, 2, 3? How about classes 4 and 5?

A

1-3: <5%

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14
Q

What results from the F508del at the cellular level?

A

Misfolding, stays in ER for proteasome degradation

Some get to surface but do not function well

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15
Q

Can outcome be predicted on an individual level when considering severity of mutation?

A

No

16
Q

What does the G551D mutation result in at the cellular level?

A

Inability for channel to respond to ATP, increases time in closed conformation

17
Q

What happens to water distribution when the CFTR gene is functioning properly?

A

Chloride goes to ECF

Water inside cell follows gradient, goes outside

18
Q

What happens to water flow when CFTR is functioning improperly?

A

Not enough water outside on cell surface

19
Q

What is the sequence of events that leads to CFTR regulation?

A

External stressors -> cAMP intracellular pathway -> Activation of PKA -> phosphorylation of R domain -> Activation of CFTR

20
Q

What is ASL and what is its function?

A

Airway surface liquid. Activates cilia and hydrates mucous

21
Q

What happens to ASL volume in CF?

A

ASL layer not maintained

22
Q

What bacteria infections are common in CF patients?

A 
Staph aureus
Pseudomonas aeruginosa
Burkholderia sepacia
Haemophilus influenza
Aspirgillus fumigatus
23
Q

How many CF pediatric patients get Pseudomonas aeruginosa?

A

40-60%

24
Q

What are mainstays in treating lung dysfunction in CF?

A

Chest physiotherapy to remove drainage

Aggressive antibiotics to clear infection

25
Q

What other things are common to treat CF lung dysfunction?

A

Hypertonic saline flush and DNase aerosols to make mucous less viscous
Anti-inflammatories

26
Q

What is the physiological function of CFTR in pancreatic cells?

A

Secrete HCO3 to recruit intracellular H2O

Prevent formation of protein plugs

27
Q

What is the pathophysiology of pancreatic CFTR dysfunction?

A

Protein plug blockage -> damage to cells -> proteolytic enzyme leakage -> destruction of tissue

28
Q

What is the function of CFTR in the intestine?

A

Hydration of intestinal epithelium

29
Q

What is the result of CFTR dysfunction in the intestine?

A

Obstruction
Inability to absorb nutrients, fats
Susceptibility to small and large bowel cancer

30
Q

What anatomical feature is absent in men with CF?

A

Vas deferens

31
Q

What is the definitive diagnostic test for CF?

A

Sweat test

32
Q

How does CFTR work in the skin?

A

Opposite of GI and lungs, reabsorbs Cl

33
Q

Why does CFTR dysfunction lead to salty sweat?

A

Decreased ability to reabsorb Cl and Na, salty sweat

34
Q

How can CF lead to diabetes?

A

Pancreatic destruction of Beta cells in pancreas

Insulin resistance as well

35
Q

What types of prenatal testing are available for CF?

A

Chorionic villous sampling
Amniotic fluid
Echogenic bowel on Ultrasound

36
Q

What are the major objectives for CF treatment?

A

Lung: Clear secretions, control infx
Maintain nutrition
Prevent intestinal obstruction

37
Q

What therapy has been used to target G551D mutations?

A

Ivacaftor: Keeps channel open longer

38
Q

What therapy has been tailored for F508del mutations?

A

Lumacaftor: promotes traffic of CFTR to the surface from ER

with Ivacaftor

CRRAB II - Medicine (8 decks)

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