CF Flashcards

1
Q

Define CF

A

A multi-system autosomal recessive disease

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2
Q

When are the majority of CF cases diagnosed

A

Before 6 months

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3
Q

How many different mutations can there be for the CFTR gene

A

Over 2,400 mutations

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4
Q

What is the median age of survival for CF

A

40 years old

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5
Q

What protein is mutated for CF

A

Cystic fibrosis transmembrane conductance regulator

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6
Q

What moves across the membrane without inhibition

A

Water
CO2
O2

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7
Q

How are new borns tested for CF

A

Immunoreactive trypsinogen (IRT)
90% infants

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8
Q

What is the gold standard for diagnosis of CF

A

Chloride sweat test

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9
Q

Who should be tested for CF

A

Nasal polyps
Sinusitis
Clubbing
Infertility (male)
Obstructive azoospermia

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10
Q

What happens with CFTR mutations

A

In the airway, Chloride is trapped in the cells and sodium flows in along with water

In the sweat glands, chloride can enter causing excessive chloride and sodium in sweat (4x)

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11
Q

What percent of CF Children have intestinal blockage

A

20%

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12
Q

What does the meconium tell us about a infant with CF

A

If it have a ileus (blockage) they may have CF

Do to pancreatic malfunction

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13
Q

Colonizing bacteria with CF

A

Staphylococcus aureus
Haemophilus influenza
Pseudomonas aeruginosa

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14
Q

Bacteria specific to CF

A

Stenotrophomonas maltophilia
Burkholderia cepacia complex

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15
Q

What do infants suffer from with CF

A

Poor weight gain
Failure to thrive (FTT)
Multiple respiratory infections a year
Consistent cough with sputum
Pancreatic insufficiency

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16
Q

What causes dysfunction of pancreatic malfunction

A

Mucus plugging duct

Many have diabetes

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17
Q

Sweat test that is normal

A

Equal to or less than 39 mmol/g

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18
Q

Salt test with possibility of CF

A

40-50 mmol/g

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19
Q

Sweat test levels that indicate Diagnosis of CF

A

Equal or greater than 60mmol/g

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20
Q

What happens happens to fremitus with CF

A

It increases with consolidation

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21
Q

What are colonizer bacteria

A

Grow in the lung biome without causing symptoms
(Held in check)

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22
Q

What defines infecting bacteria of CF

A

If there is some changes unchecked growth
(Mucus feeds)

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23
Q

What makes CF restrictive

A

Atelectasis
Bronchiectasis
Over distention of alveoli

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24
Q

What can happen with advanced CF

A

Recurrent pneumonia
Chronic bronchitis
Bronchiectasis
Lung abscess

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25
Q

Harm of defected pancreas function due to CF

A

Deficiency in fat soluble vitamins

Diarrhea

Malnutrition

Failure to thrive

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26
Q

Musculoskeletal disorders associated with CF

A

Reduction of bone density
Kyphosis
Malabsorption of vitamin D
Poor nutrition

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27
Q

Reproductive dysfunction associated with CF

A

Women have decreased fertility
(Thick mucus in cervix)

Infertility in men
Lack of sperm
(Missing of underdeveloped vas deferens)

28
Q

Upper airways associated with CF

A

Sinusitis
Nasal polyps

29
Q

Liver disorders associated with CF

A

Cirrhosis
Neonatal jaundice

30
Q

Gallbladder disorder associated with CF

A

Cholelithiasis

31
Q

Salivary gland abnormalities associated with CF

A

Altered electrolyte concentration in secretions

32
Q

What two test do all new borns get for CF

A

Serum immunoreactive trypsinogen

DNA analysis for mutations in CFTR

33
Q

What four test are down after newborn screening?

A

Sweat chloride
Nasal potential difference
Stool fecal fat testing
Fecal elastase test

34
Q

Explain sweat chloride test

A

Small amount of pilocarpine (chemical to produce sweat) is applied to the arm or leg

Electrode is attached to area

Mild current

Preformed twice

35
Q

Who gets sweat chloride test

A

Siblings who are confirmed

Siblings with symptoms

Positive screening

36
Q

Explain nasal potential difference

A

A voltmeter is used to measure charge

Nasal passage has different salt placed

Differing salts should provoke predictable movement across epithelial membrane

Abnormal (CF)

37
Q

Explain fecal elastase test

A

Measure levels of fecal elastase-1enzyme

Give info on pancreas

38
Q

Explain stool fecal fat test

A

Measures levels of fat in stool

39
Q

Who gets nasal potential difference test

A

Patients with symptoms

Have borderline or normal sweat test

Non-diagnostic CF genotype

40
Q

What are prenatal CF test

A

If mother is positive for mutation, test father

Amniocentesis (first trimester)
Can tell if: carrier, normal, affected

41
Q

What is the likelihood two carriers have a CF child

42
Q

What is the likelihood that a CF person with a carrier have a CF child

43
Q

What is the likelihood that a CF parent with a non-CF partner have a CF child

A

0
100% carrier

44
Q

What is the likelihood that a non CF carrier and a carrier have a CF child

A

50% carrier

45
Q

Bronchopulmonary hygiene for CF

A

Mucus clearance:

HFCWO 20-30 mins (2x)
Active cycle of breathing technique
Autogenic
Huff cough
Exercise

46
Q

Order to deliver medication for CF patients

A

SABA
Hypersonic saline
Mucus clearance (Dorsa Alfa)
Inhaled antibiotics
Symbicort

47
Q

Why is Dornase Alfa more appropriate for CF patients

A

They have 45% less mucin

416% more DNA

48
Q

When is hypertonic saline useful for a CF patient

A

Equal or younger than 6 years old
(3-7%)

49
Q

Can you mix hypertonic saline and Dornase Alfa

A

No, hypertonic saline inactivates Dornase Alfa

50
Q

What is inhaled mannitol

A

Unknown how it works

Hydrates AW like NAC

(Dry powder)

51
Q

Anytibiotics for CF

A

Tobi
Cayston

52
Q

How is cayston used for CF patients

A

Proprietary Altera Nebulizer system

53
Q

What are the possible complications for CF patients taking persistent ABX

A

Bacteria become resistant

Thrush and fungal disease (whip out normal flora)

54
Q

How is ibuprofen used for CF patients

A

High dose impede lung decline <18

<18 w/ FEV1 >60%

50-100mcg/mL

55
Q

Side effects of high dose ibuprofen for CF patients

A

Painless gastrointestinal bleeding

56
Q

What CF patients get Azithromycin

A

With Chronic Pseudomonas areuginosa

57
Q

corticosteroids recommended for CF patients

A

Not unless they have reactive AWs

Allergic bronchopulmonary aspergillosis

58
Q

Are glucocorticoid recommended for CF patients

A

Asthma

Allergic bronchopulmonary aspergillosis

59
Q

What anti-inflammatory drugs have insufficient evidence treating CF

A

Leukotriene modifiers

NAC (oral)

Inhaled glutathione

60
Q

What’s the hazard to lung transplant for CF patients

A

Immunosuppressant medication may allow pseudomonas aeruginosa and burkholderia cepacia complex

61
Q

What do new CF meds do

A

Correct mutations

62
Q

What do corrector CF meds do

A

Help mutated CFTR reach epithelial surface

63
Q

What do potentiator meds do for CF patients

A

Improves the function of CFTR cells that have reached epithelial surface

Specific mutations

64
Q

What is the oral potentiator to remember

A

Ivacaftor (kalydeco)

65
Q

What is Orkambi

A

A potentiator med

Reduce risk of exacerbation by 30-39% in qualified patients

66
Q

What is symdeko

A

A potentiator

67
Q

What is trikafta

A

A potentiator