1. This is a true story….A doctor informs a young father that his newborn baby boy has cystic fibrosis. The father says, “Yes, that would make sense as I am a carrier for cystic fibrosis.” But the grandfather says, “No, the baby can’t have cystic fibrosis—my daughter, the mother, was extensively genetically tested and she does not have the gene for cystic fibrosis.” Who is correct? The doctor or the grandfather? Explain.
Watch the following video and answer the following questions.
2. What is the CFTR protein and what is its function? What happens if this protein is defective in cystic fibrosis patients?
3. As a doctor, what are three important tests you would order to confirm a CF diagnosis and why?
4. If early screening finds a CF mutation in a child, would you recommend genetic counseling for the family? Explain your reasons why.
5. What is the average or median life expectancy of a cystic fibrosis patient? Today, up to what age can patients live? How is this possible?
6. Why is the skin of cystic fibrosis patients salty (explain the mechanism)?
7. Why do CF patients have greasy stools and persistent cough?
8. What is the bacterial pathogen involved in severe lung infections in later stages of CF?
Watch the following video and answer the following questions.
Please find information from reliable sources rather than simply from Holly’s account. Include the source link with each answer.
9. Why does Holly take the following medications? How do they help her deal with CF?
a) Ursodeoxycholic acid
b) Ranitidine
c) Salbutamol inhaler
d) Nebulizer with DNase
10. Why does Holly take so many antibiotics? What impact may the antibiotics have on Holly’s gut normal flora?
11. Why are CF patients supposedly able to absorb only about half of the nutrients in food? Does this affect their growth or weight?
12. An analysis of a CF patient’s stool revealed decreased or absent levels of the digestive enzymes (trypsin and chymotrypsin) and high levels of fat. Why?
13. Although many women with CF are able to conceive, can you think of one factor that may make pregnancy difficult?
14. The lumacaftor/ivacaftor drug combination has been found to be effective in cystic fibrosis patients. What is the annual cost of this drug to the patient? What is the molecular mechanism by which these drugs bring relief to the cystic fibrosis patient?
15. What is one future treatment for cystic fibrosis that is promising and explain briefly how it works? Cite your source.
