A mother brings her 6-month-old daughter to the HCP for evaluation of possible colic. The mother says the baby has had many episodes of crying after eating and, despite having a good appetite, is not gaining weight. The mother says the baby’s belly “gets all swollen sometimes.” The mother says the baby tastes “salty” when the mother kisses the baby. Further workup reveals a diagnosis of cystic fibrosis. The mother relates that her 23-month-old son has had multiple episodes of “chest congestion” and was hospitalized once for pneumonia. The mother wants to know what cystic fibrosis is and she also wants to know if she should have any more children.
Post an explanation of the disease highlighted in the scenario you were provided. Include the following in your explanation:
Question
The role genetics plays in the disease.
Why the patient is presenting with the specific symptoms described.
The physiologic response to the stimulus presented in the scenario and why you think this response occurred.
The cells that are involved in this process.
How another characteristic (e.g., gender, genetics) would change your response.
Resources
McCance, K. L. & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in adults and children (8th ed.). St. Louis, MO: Mosby/Elsevier.
Chapter 1: Cellular Biology; Summary Review
Chapter 2: Altered Cellular and Tissue Biology: Environmental Agents (pp. 46-61; begin again with Manifestations of Cellular Injury pp. 83-97); Summary Review
Chapter 3: The Cellular Environment: Fluids and Electrolytes, Acids, and Bases
Chapter 4: Genes and Genetic Diseases (stop at Elements of formal genetics); Summary Review
Chapter 5: Genes, Environment-Lifestyle, and Common Diseases (stop at Genetics of common diseases); Summary Review
Chapter 7: Innate Immunity: Inflammation and Wound Healing
Chapter 8: Adaptive Immunity (stop at Generation of clonal diversity); Summary Review
Chapter 9: Alterations in Immunity and Inflammation (stop at Deficiencies in immunity); Summary Review
Chapter 10: Infection (pp. 289–303; stop at Infectious parasites and protozoans); (start at HIV); Summary Review
Chapter 11: Stress and Disease (stop at Stress, illness & coping); Summary Review
Chapter 12: Cancer Biology (stop at Resistance to destruction); Summary Review
Chapter 13: Cancer Epidemiology (stop at Environmental-Lifestyle factors); Summary Review
Justiz-Vaillant, A. A., & Zito, P. M. (2019). Immediate hypersensitivity reactions. In StatPearls. Treasure Island, FL: StatPearls Publishing. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK513315/
Credit Line: Immediate Hypersensitivity Reactions – StatPearls – NCBI Bookshelf. (2019, June 18). Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK513315/. Used with permission of Stat Pearls
Immunity and Inflammation
Khan Academy (2010, February 24). Inflammatory response | Human anatomy and physiology | Health & medicine [Video file]. Retrieved from https://www.youtube.com/watch?v=FXSuEIMrPQk
Note: The approximate length of the media program is 14 minutes.
Soo, P. (2018, July 28). Pathophysiology Ch 10 alterations in immune function [Video file]. Retrieved from https://www.youtube.com/watch?v=Jz0wx1-jTds
Note: The approximate length of the media program is 37 minutes.
Acid-Base Balance #1
MedCram. (2012, April 28). Medical acid base balance, disorders & ABGs explained clearly [Video file]. Retrieved from https://www.youtube.com/watch?v=4wMEMhvrQxE
Note: The approximate length of the media program is 13 minutes.
Acid-Base Balance #2
MedCram. (2012, April 29). Medical acid base balance, disorders & ABGs explained clearly | 2 of 8 [Video file]. Retrieved from https://www.youtube.com/watch?v=GmEeKVTpOKI
Note: The approximate length of the media program is 15 minutes.
Hyponatremia
MedCram. (2017, December 23). Hyponatremia explained clearly (remastered) – Electrolyte imbalances [Video file]. Retrieved from https://www.youtube.com/watch?v=bLajK5Vy55M
Note: The approximate length of the media program is 15 minutes.
