FOM 2.1.1

Question 1

COTW Question :

22 year old college student with cystic fibrosis

Genetically, Sherilyn is homozygous for the Fdel508 CFTR allele

You have been Sherilyn’s family doctor her whole life and she trusts you explicitly. You know your advice has been a major influence on her medical decisions in the past.

Sherilyn read about a new drug called “Kalydeco” that helped people with a certain type of CF and wants to know if it can help her. The drug costs almost $300,000 per year (~$800/day).

What medical advice do you provide Sherilyn and why?

What are all the overarching topics and reasons that should be discussed and would you?

Answer 1

Need to understand the underlying idea of matching a drug with a patient.

The patient is homozygous for the mutation. The new drug would not be effective in treating her.

Talk about the cost benefit analysis.

Question 2

Would Kalydeco be effective for Sherilyn Prince?

Answer 2

No, her type of mutation isn’t addressed/remedied by this drug.

Question 3

What type of mutation does Ms. Prince have?

Answer 3

Homozygous Fdel508 CFTR allele

Question 4

What is the main pathological process in cystific fibrous? (hint: it affects many organ systems)

Answer 4

Thickened (mucous) secretions

• digestive ducts
• lungs

Question 5

Why does the skin of a CF patient taste salty?

Answer 5

CFTR (a Cl- channel) is absent or adversely affected, which causes Na+ & Cl- to remain on the surface of the skin.

Question 6

Are there different classes of CFTR mutations? If so, how many?

Answer 6

Yes, 4 (I - IV)

Question 7

What does the study of pharmacogenetics attempt to understand?

Answer 7

Influence of genetics on drug action