Cystic Fibrosis

Question 1

Which chromosome is the cystic fibrosis mutation on?

Answer 1

chromosome 7

Question 2

Which class of mutation has defective protein synthesis?

Answer 2

Class I mutation

Question 3

Which class of mutation has incorrect protein folding?

Answer 3

Class II mutation

F508 delta mutation is the most common mutation

Question 4

Which class of mutation has reduced # of active proteins?

Answer 4

Class V mutation

Question 5

Which class of mutation has limited function of Cl- proteins in the cell membrane?

Answer 5

Class IV mutation

Question 6

Which class of mutation has defective regulation of Cl- protein makes it to membrane but doesn’t work?

Answer 6

Class III mutation

Question 7

What are the 4 approaches to care for CF?

Answer 7

1. Nutrition
2. Pancreatic enzymes
3. NSAIDS
4. Anti-pseudomonal

Question 8

Which CF drug selectively cleaves DNA which reduces mucus viscosity?

Answer 8

Anti-Obstructive - Dornase alpha (rhDNase) [Pulmozyme]

Question 9

Effects of Azithromycin

Answer 9

1. Doesn’t kill pseudomonas but reduces ability to cause biofilm
2. Anti-inflammatory–>suppresses excessive immune response

Question 10

Tobramycin (aminoglycoside) nebulized

Answer 10

• 28 days on treatment, 28 days off
• Interferes with 30s and 50s ribosomal subunits
• Decreases exacerbations in those chronically infected with Pseudomonas

Question 11

Which two medications are alternated in CF?

Answer 11

Tobramycin (nebulized - aminoglycoside) and Aztreonam (inhaled - monobactam)

Question 12

SE of Tobramycin

Answer 12

• Abnormal taste
• Eosinophilia
• Cough, wheezing, rales
• Voice alteration
• Tinnitus

Question 13

For which CF patient is ibuprofen indicated for?

Answer 13

1. Under 18

2. FEV >60%

Question 14

Adverse drug events: IBU

Answer 14

• Gastrointestinal bleed
• Nephrotoxicity
• Tinnitus
• Headache
• Edema
• Fluid retention

Question 15

Ivacaftor (Kalydeco) effect

Answer 15

“potentiator” of CFTR, meaning it increases the probability that the defective channel will be open and allow chloride ions to pass through the channel pore

Question 16

Name 3 SE of Ivacaftor

Answer 16

1. Increased LFTs
2. Arthralgia
3. Hyperglycemia

Question 17

Orkambi (Lumacaftor + Ivacaftor) effect

Answer 17

Lumacaftor–> increases # of CFTR molecules that make it to the cell surface

Ivacaftor–>Improves Cl- conductance through CFTR

Question 18

ADE of Orkambi (Lumacaftor + Ivacaftor)

Answer 18

1. Nasopharyngitis
2. INCREASED creatinine phosphokinase
3. Menstrual disease

Question 19

What is essential to remember about how to take Symdeko (Tezacaftor + Ivacaftor)?

Answer 19

This must be taken with fat containing food

Question 20

Which liver enzyme metabolizes Symdeko (Tezacaftor + Ivacaftor)?

Answer 20

CYP3A

So Rifampin, St. John’s Wart will lower Symdeko level
Ketoconazole, Fluconazole, Grapefruit, Seville oranges will increase level

Question 21

What are 2 important things to monitor with a patient taking Symdeko (Tezacaftor + Ivacaftor)?

Answer 21

1. ALT and AST!!!
   - check prior to starting medication
   - check every 3 months for 1st year
   - After 1st year, check yearly
2. Monitor for cataracts in children

Question 22

When are O2 and BiPAP indicated for CF?

Answer 22

• Advanced CF

- Hypercapnea

Question 23

What 4 things help us consider lung transplant in CF patient?

Answer 23

1. FEV <30%
2. Increased exacerbation frequency despite ABO
3. Recurrent Pneumothorax
4. Recurrent Hemoptysis

Question 24

For giving pancreatic enzymes, how is the dose calculated?

Answer 24

Pancreatic enzymes are dosed based on LIPASE

Question 25

ADE of pancreatic enzymes

Answer 25

*Oral ulcers

so, give with applesauce

Question 26

Which vitamins need to be supplemented in Cystic Fibrosis?

Answer 26

Fat soluble

Vitamins A, D, E, K

Question 27

What is the desired effect of Urodeoxycholic acid in CF?

Answer 27

Urodeoxycholic acid is a gallstone dissolution agent.

-decreases cholesterol content of bile

Question 28

Name 4 side effects of urodeoxycholic acid

Answer 28

1. Alopecia
2. Thrombocytopenia
3. Leukopenia
4. INCREASED serum creatitine

Question 29

Which CF patient is ibuprofen indicated for?

Answer 29

> 18 years old
and
FEV >60%

Question 30

Ivacaftor is indicated for which gene mutation?

Answer 30

G551D mutation

Question 31

Lumacaftor is indicated for which gene mutation?

Answer 31

F508 delta

Question 32

Tezacaftor is indicated for which gene mutation?

Answer 32

F508 delta