Summarize Genetic Diseases: Hemophilia A and Huntington’s Disease and cystic fibrosis in terms of etiology, pathogenesis, clinical picture, diagnosis, and treatment rationale.
|The 5 General Topics of Disease Summary|
|1. Etiology & risk factors|
|2. Pathogenesis: The molecular mechanism of the disease process (How the disease process evolves)|
|3. Clinical Picture: Signs& Symptoms, Sequelae, and Complications|
|4. Diagnosis: Labs & tests (as well as screening tests and follow-up tests whenever applicable)|
|5. Pathophysiologic rationale of treatment|
The summary should cover the following 3 genetic diseases:
- Hemophilia A is an example of X-linked recessive genetic disease
- Huntington’s Disease as an example of autosomal dominant genetic disease
- Cystic fibrosis as an example of autosomal recessive genetic disease
- For each disease you need to cover topics through 5. In the above-mentioned table.
- Etiology: talk about the gene responsible for the disease (which chromosome, the exact location of the gene on the chromosome, and the type of mutation)
- Pathogenesis: talk about the mechanism by which the mutant abnormal gene leads to the development of the clinical picture of each disease
- Clinical Picture: S&S, sequalae and complications of each disease
- Diagnosis: Tests done to diagnose each disease
- Pathophysiologic rationale of treatment: e.g we use recombinant factor VIII for treating patients with Hemophilia A since they lack that clotting factor because of a genetic mutation……and so on.
- For each disease talk about the Mode of inheritance and recurrence risk: e. what’s the possibility of having normal kids/diseased kids/carrier kids…..etc
This is the textbook for information:
McCance, K.L., Huether, S. E. (2018) Pathophysiology: The Biological Basis for Disease in Adults and Children. (8th Ed) St. Louis, MO. Elsevier Mosby ISBN-13: 978-0323583473 ISBN-10: 9780323583473