Exam #4: Cystic Fibrosis (Metzger)

Question 1

Cystic Fibrosis is a ______ disease and there is NO CURE

Answer 1

autosomal RECESSIVE disease

Question 2

What causes CF?

Answer 2

a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on chromosome 7

Question 3

What is the CFTR gene responsible for?

Answer 3

producing chloride channels

Question 4

T/F There are a lot of mutations that can occur on this gene

Answer 4

TRUE

Question 5

What can be seen in CF patients? (3)

Answer 5

• pancreatic insufficiency
• male infertility
• liver disease

Question 6

What type of mutation is G551D?

Answer 6

gating mutation

Question 7

What type of mutation is f508del?

Answer 7

protein-processing mutation

Question 8

What type of mutation is R117H?

Answer 8

conductance mutation

Question 9

Splicing and conductance mutations typically cause ______ disease

Answer 9

milder

Question 10

CFTR is made but misfolded and degraded by the proteasome before it gets to the cell surface

Answer 10

protein processing mutation

Question 11

CFTR is made and gets to cell surface but does NOT transport Cl-

Answer 11

gating mutation

Question 12

CFTR is made and gets to the cell surface and but the ion channel is faulty and transports SOME Cl- less severe disease.

Answer 12

conductance mutation

Question 13

What can be used for diagnosis of CF patients?

Answer 13

sweat glands

b/c they typically have a higher concentration of salt on skin

Question 14

What is used to follow CF clinically?

Answer 14

FEV1

Question 15

What organs DON’T CF effect?

Answer 15

• heart
• kidneys
• brain

Question 16

Many CF patients develop EXOCRINE PANCREATIC DEFICIENCY. What does this mean?

Answer 16

there are defects to making digestive enzymes LEADS to fatty stools and malnutrition

Question 17

4 MAIN areas of symptoms in CF pts?

Answer 17

• pulmonary (SOB, decreased exercise tolerance, cough, sputum production)
• sinus (congestion, HA, pressure)
• pancreatic (nutritional insufficiency)
• digestive (constipation, meconium ileus)

Question 18

FEV1 is a marker of? (2)

Answer 18

disease severity AND drug effectiveness

Question 19

FEV

90%: mild
60-90%: moderate
30-60%: severe
less than 30%: very severe

Answer 19

forced expiratory volume in 1 SECOND

Question 20

T/F There are common bacterial and fungal infections associated with CF

Answer 20

TRUE

psuedomonas (bacteria) is most common

Question 21

Order of Inhaled medications? (4)

Answer 21

1. bronchodilator
2. hypertonic saline
3. Dornase alfa
4. inhaled antibiotic

Question 22

What medications are ALL CF patients on? (5)

Answer 22

• Bronchodilator
• Hypertonic saline
• Dornase alfa
• Inhaled antibiotics
• Pancreatic enzymes

Question 23

What is the most common CF mutation?

Answer 23

F508del homozygote

Question 24

Acronym for acute exacerbation of CF?

Answer 24

CF Pancreas

Question 25

What should be used to guide agent selection for PRIMARY EXACERBATIONS?

Answer 25

previous cultures