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Clinical Problem Solving > 3 - Cystic Fibrosis > Flashcards

3 - Cystic Fibrosis Flashcards

1
Q

What type of cells are affected by cystic fibrosis?

A

Epithelial

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2
Q

Cystic fibrosis affects the movement of which ions?

A

Cl-

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3
Q

Why are epithelial cells able to move materials into one side and out the other?

A

They are polarized

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4
Q

What are the 4 main organs affected by cystic fibrosis?

A
  1. Lungs
  2. Pancreas
  3. Sweat glands
  4. Male reproductive tract
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5
Q

What proportion of Caucasians are carriers for cystic fibrosis?

A

1 in 25

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6
Q

What proportion of Caucasians are diagnosed with cystic fibrosis?

A

1 in 2500

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7
Q

Cystic fibrosis is the result of a mutation on which chromosome?

A

7

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8
Q

In cystic fibrosis, an amino acid is deleted from which gene?

A

CFTR gene

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9
Q

How does the mucociliary escalator protect against infection?

A

Cilia beat pathogen-trapping mucus into the oropharynx where it can be swallowed

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10
Q

Why is someone with cystic fibrosis more likely to suffer repeated lung infections?

A

Thickened mucus traps pathogens

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11
Q

Pancreatic lipase aids in ___ absorption.

A

Fat

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12
Q

Why does cystic fibrosis lead to poor fat absorption?

A

Thickened mucus blocks pancreatic lipase from reaching the small intestine

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13
Q

What is steatorrhea?

A

Fatty stools

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14
Q

How does cystic fibrosis lead to salty sweat?

A

Due to a dysfunctional CFTR channel, Cl- (and thus Na+) is not reabsorbed by the sweat glands

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15
Q

How does cystic fibrosis lead to an early death?

A

Recurrent lung infections damage the airways

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16
Q

What is the current life expectancy for cystic fibrosis?

A

40 years

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17
Q

What percentage of cystic fibrosis patients make their teenage years?

18
Q

Compare type 1 and type 2 thinking.

A

Type 1: fast, instinctive, usually correct

Type 2: slow, deliberate, often incorrect

19
Q

Two cystic fibrosis carriers have a child. What are the odds that the child will be a carrier?

20
Q

List 6 symptoms of cystic fibrosis.

A
  1. Recurrent chest infections
  2. Coughing
  3. Wheezing
  4. Shortness of breath
  5. Fatty stools
  6. Failure to thrive
21
Q

What type of epithelium lines the upper respiratory tract?

A

Pseudostratified columnar ciliated

22
Q

Name the unicellular glands within the respiratory and GI tracts that secrete mucus.

A

Goblet cells

23
Q

How does physiotherapy help with cystic fibrosis?

A

Clears mucus from the airways

24
Q

What pharmacological agents are commonly used to combat lung infections in cystic fibrosis?

A

Antibiotics

25
Q

What is the medical term for swollen fingernails?

26
Q

List 3 types of dietary supplements for cystic fibrosis patients.

A
  1. Pancreatic lipase supplements
  2. Vitamins A, D, E, and K
  3. Calcium
27
Q

How does cystic fibrosis affect the male reproductive tract?

A

Absence of the vas deferens means sperm can be made but not ejaculated

28
Q

A newborn with cystic fibrosis will have ___ sodium levels in the sweat.

29
Q

Explain how cystic fibrosis causes thick mucus.

A 
Defective CFTR channel -> 
Cl- trapped in cell -> 
Na+ follows -> 
Water follows 
Less water in mucus
30
Q

Water follows Na+ across the cell membrane due to what phenomenon?

31
Q

Why would Na+ follow Cl-?

A

Cations and anions travel together to maintain ELECTRO-NEUTRALITY

32
Q

A patient with cystic fibrosis uses a DNase spray. What is the origin of the target DNA?

A

White blood cells collecting to fight infection

33
Q

What pharmacological treatment would break down excess DNA?

A

DNase spray

34
Q

Define hypoxia.

A

Low oxygen in blood

35
Q

What causes clubbing of the fingernails?

A

Long-term hypoxia

36
Q

List 4 conditions that could lead to clubbing of the fingernails. (Hint: involve long-term hypoxia.)

A
  1. Lung cancer
  2. Sarcoidosis
  3. Tuberculosis
  4. Tetralogy of Fallot
37
Q

List 4 vitamins whose absorption is hindered in cystic fibrosis patients. (Hint: fat-soluble).

38
Q

Why are pancreatic secretions trapped in cystic fibrosis?

A

Thickened mucus sticks them in place

39
Q

Who is unlikely to be a cystic fibrosis carrier?

A

People of colour

40
Q

What is genetic drift

A

Change in allele frequency caused by chance (visualize: natural disaster)

41
Q

What are the 5 principles of Hardy-Weinberg equilibrium?

A
  1. No MUTATIONS
  2. No MIGRATION
  3. No GENETIC DRIFT
  4. No NON-RANDOM MATING
  5. No NATURAL SELECTION
    Remember: Marilyn Monroe Gets Naked Nightly
42
Q

Describe 3 principles of treatment for cystic fibrosis.

A
  1. Fight INFECTION (antibiotics)
  2. Clear AIRWAYS (physiotherapy, mucus-thinning medication)
  3. Ensure proper NUTRITION (rich diet, vitamins)

Clinical Problem Solving (10 decks)

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