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GI Exam 1 > Cystic FIbrosis > Flashcards

Cystic FIbrosis Flashcards

1
Q

CF affects how many people in the U.S. and in the world respectively?

A

30,000

70,000

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2
Q

What does CF ultimately cause?

A

Sticky unusually thick mucus

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3
Q

What happens when CF mucus is produced?

A

It clogs lungs
Causes lung infections
Obstructs pancreas
Affects enzymes from food break down and food absorption

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4
Q

How many new cases of CF are diagnosed each year?

A

1,000 per year

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5
Q

Life expectancy of CF patients?

A

30s 40s and beyond

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6
Q

What gene is defective in CF patients?

A

CFTR (CF transmembrane conductance regulator) gene

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7
Q

What is the best way to diagnose cystic fibrosis?

A

Sweat test

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8
Q

How to interpret the sweat test?

A

High NaCl levels indicate CF

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9
Q

When was the CFTR gene discovered?

A

1989

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10
Q

What is the specific gene defect in CTFR gene?

A

F508del

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11
Q

What does the majority of morbidity and mortality come from in CF?

A

Pulmonary disease associated with chronic bronchial infections

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12
Q

What is the most common bacterial infection in CF?

A

Pseudomonas aeruginosa

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13
Q

What do all CF disease causing mutations result in?

A

Defective cAMP-regulated Cl- secretion by epithelial cells

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14
Q

What is a Class I mutation of CFTR?

A

Impaired protein production (premature termination codons)

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15
Q

What is a Class II mutation of CFTR?

A

Affect CFTR protein processing due to misfolding (mutation in F508del and others)

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16
Q

What is a Class III mutation of CFTR?

A

Disruption in channel regulation through impaired gating (G551D)

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17
Q

What is a Class IV mutation of CFTR?

A

Decrease Cl- ion conductance through the Cl- channel

18
Q

What is a class V mutation of CFTR?

A

Significant reduction of normal protein levels

19
Q

What is a class VI mutation of CFTR?

A

Decreased retention/anchoring at the cell surface

20
Q

What does the Cl- concentration have to be in order for a patient to have CF?

A

Greater than 60 mM/L

21
Q

How many CFTR mutations are disease causing?

A

177

22
Q

Class I treatment:

A

Aminoglycoside antibiotics

23
Q

Class II treatment:

A

Chemical and molecular chaperones can potentially promote protein folding

24
Q

Class III treatment:

A

CFTR channel activators (VX-770 ivacaftor)

25
Q

Class IV treatment:

A

Compensation for reduced conductance

26
Q

Class V treatment:

A

Antisense oligonucleotides

27
Q

Class VI treatment:

A

Compounds that enhance CFTR anchoring on cell surface

28
Q

What channel is being studied to rectify defective Cl- channels?

A

Ca2+ activated Cl- channels

29
Q

What are ENaC?

A

Epithelial sodium channels

30
Q

What do ENaC channels do?

A

Intake Na from the lumen

31
Q

What is the significance of ENaC?

A

They are needed to pump Na into the lumen drawing water with it and making the mucus less thick

32
Q

What activates purinergic receptors?

A

ATP
UTP
Denusofol

33
Q

What do activated purinergic receptors do?

A

Inhibits ENaC

Activates CaCC

34
Q

What do CaCC channels do?

A

Pumps Cl- into the lumen

35
Q

What is another name for CaCC?

A

AN01 (sought after to be activated)

36
Q

What is the first drug to treat underlying cause of CF in a small group of people with CF?

A

Kalydeco aka Ivacaftor

37
Q

In patients with two copies of F508del mutation what is the current treatment?

A

Ivacaftor in combination with lumacaftor

38
Q

In patients with two copies of F508del what drug improves lung function and weight gain?

A

Orkambi

39
Q

What is ivacaftor?

A

CFTR activator

40
Q

What is lumacaftor?

A

Protein folding chaperone

41
Q

What is Orkambi?

A

Combination of ivacaftor and lumacaftor

GI Exam 1 (25 decks)

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