Pathophysiology

Post an explanation of the disease highlighted in the scenario you were provided. Include the following in your explanation:

• Which genetic mutations are commonly associated with the disease?
• Why is the patient presenting with the specific symptoms described?
• Discuss the pathophysiological mechanisms of the disease in detail.
• What do the blood test results tell us about the disease and disease progression?

References

Heijerman, H. G. M., McKone, E. F., Downey, D. G., Van Braeckel, E., Rowe, S. M., Tullis, E., … VX17-445-103 Trial Group. (2019). Efficacy and safety of the elexacaftor plus tezacaftor plus ivacaftor combination regimen in people with cystic fibrosis homozygous for the F508del mutation: A double-blind, randomised, phase 3 trial. The Lancet, 394(10212), 19401948.

Middleton, P. G., Mall, M. A., Devnek, P., Lands, L. C., McKone, E. F., Polineni, D., … VX17-445-102 Study Group. (2019). Elexacaftortezacaftorivacaftor for cystic fibrosis with a single Phe508del allele. The New England Journal of Medicine, 381(19), 18091819.

Rogers, J. (2023). McCance & Huethers pathophysiology: The biologic basis for disease in adults and children (9th ed.). Elsevier.