B4-076 Cystic Fibrosis

Question 1

CF gene is on chromosome

Answer 1

7

Question 2

passive conduit for chloride and bicarbonate transport via ATP gated channel

Answer 2

CFTR

Question 3

loss of CTFR results in

Answer 3

abnormal regulation of airway surface liquid

Question 4

most common mutation

Answer 4

F508del

Question 5

F508del causes protein […] before it can make it to the apical membrane

Answer 5

misfolding

Question 6

if two mutations are detected on CFTR panel

Answer 6

refer to accredited CF center immediately

Question 7

if one mutation is detected on CFTR panel

Answer 7

determine sweat chloride at an accredited CF center

Question 8

clinical symptoms of CF in infants

3

Answer 8

• failure to thrive
• pulmonary symptoms
• meconium ileus

Question 9

evidence of CFTR dysfunction

3

Answer 9

• elevated IRT
• sweat chloride
• mutation analysis

Question 10

CF inheritance pattern

Answer 10

autosomal recessive

Question 11

dx of pancreatic insufficiency is confirmed via

Answer 11

fecal elastase

Question 12

pancreatic insufficiency is caused by

Answer 12

• thick fluid from defective CFTR blocks pancreatic duct
• reduced secretion of amylase, lipase, and phopholipases

Question 13

pancreatic insufficiency treatment

Answer 13

• PERT
• fat soluble vitamin supplements

Question 14

chronic daily cough and sputum production

Answer 14

bronchiectasis

Question 15

the airway diameter should be […] times the adjacent vessel diameter to indicate bronchiectasis

Answer 15

1.5

Question 16

nebulized antibiotics targeting pseudomonas

Answer 16

tobramycin
aztreonam

Question 17

at age 10, screening for […] is recommended for CF patients

Answer 17

diabetes

Question 18

potentiator CFTR modulation

Answer 18

potentiates CTFR already at apical plasma membrane

Question 19

corrector CTFR modulator

Answer 19

correct CTFR folding so CTFR traffics normally to apical surface

Question 20

why is the median survival rate of CF increasing?

Answer 20

modulators

Question 21

defective CFTR function results in

Answer 21

viscous exocrine fluid

Question 22

pancreatic insufficiency is diagnosed by low levels of

Answer 22

fecal elastase

Question 23

microbes, their genes, and their interactions

Answer 23

microbiome

Question 24

form of medicine that uses an individual’s unique clinical and genetic information to prevent, diagonse, and treat disease

Answer 24

personalized medicine

Question 25

how does abnormal CFTR function cause CF?

Answer 25

• failure of CTFR transport causes depletion of airway surface fluid layer
• causes impaired cilia beating due to viscous fluid
• sets stage for bacterial infection

Question 26

how does dornase alfa improve lung function?

Answer 26

cleaving DNA, reducing mucous viscosity

Question 27

F508del has what impact on the CTFR gene?

Answer 27

causes protein misfolding, protein is degraded before reaching the apical surface

Question 28

newborn CF screening tests for elevated levels of which pancreatic enzyme?

Answer 28

trypsin

Question 29

what is the carrier incidence of CF?

Answer 29

1 in 30

Question 30

what is the disease inheritance of CF?

caucasians

Answer 30

1 in 2,500