Cystic Fibrosis Pathophysiology

Cystic Fibrosis Pathophysiology

Pathophysiology – Cystic Fibrosis


  1. Find an article on a genetic disorder (use article above about Cystic Fibrosis), and

1.1. Summarize in two or three paragraphs the genetic component causing the disorder and any         multifactorial inheritance components that may contribute to the disorder.

Cystic fibrosis is a genetically inherited disease to imply that its cause has a genetic component. In fact, the disease expression is linked to the CFTR gene whereby two parents with the carrier genes will produce an offspring that inherits both carrier genes thus expressing the disease. Having one faulty gene identifies the individual as a carrier whereby the disease is not expressed. The disease is only expressed if two faulty genes are inherited, one from each parent. Population estimates postulate that 3.2% of the US population are cystic fibrosis carriers who will not express the symptoms associated with the disease (Cleveland Clinic, 2018). As such, homozygosity for the faulty CFTR gene results in cystic fibrosis expressing as a phenotype Cystic Fibrosis Pathophysiology.


1.2. Discuss the usual age of disease onset and if the sex-specific threshold model fits the disorder.

Unlike other medical ailments that may show age- or sex-specific peculiarities, cystic fibrosis can occur at any age and occurs equally in both males and females. To be more succinct, the genes that cause the disease are not impacted by gender. This is explained by the fact that the genes causing the disease must be inherited from both the mother and father who are carriers. Still, it must be noted that gender variations exist for symptoms presentation. In fact, females who present the disease at a young age have trouble with meeting growth milestones and experience more breathing related problems when compared to their male counterparts. Additionally, the females live for four years fewer than their male counterparts. Besides that, females who begin presenting disease symptoms while under 20 years of age present 60% mortality (owing to disease complications) when compared to their male counterparts. The implication is that males with the disorder have a greater advantage when compared to females with the disorder (Acton, 2013) Cystic Fibrosis Pathophysiology.

1.3. What education could you present to high-risk patients to reduce the risk of disease onset if a multifactorial component exists.

High risk patients must understand that other than genetics, multifactorial components may exist in the environment to affect disease onset. For instance, the presence of certain ailments or a particular climate could speed up the disease onset. As such, it is important for the patient to identify all the multifactorial components that could influence disease onset then control these components to reduce the risk of disease onset. For instance, if a particular climate could speed up disease onset, then the patient should identify a climate that reduces that onset (Quinn, de Paor & Blanck, 2015).


  1. Genetic screening has become widely available to the public including prenatal screening of the fetus in utero to screening adults for genetic disorders, such as Parkinson’s disease and breast cancer.

2.1. Share your thoughts on the legal, ethical, and social implications that may be related to genetic screening.

Although genetic screening has improved the medical management of genetic disorders, it has legal, ethical and social implications. Firstly, it raises the question of how the screening information should be handled in terms of confidentiality and access. This is an important concern since this information can be used inappropriately Cystic Fibrosis Pathophysiology. For instance, insurers and employers can use the information to discriminate against persons whose genetic profile identify them as being high risk individuals. Secondly, the screening presents some social concerns, particularly when the patient is turned into a second-class citizen and victimized because of having a particular genetic anomaly. Finally, it presents an ethical concern when the test results are used to influence reproduction decisions such as getting an abortion (McCance et al., 2013).

2.2. How would you educate your patient that is considering having genetic screening?

Any patient considering genetic screening should first understand what the screening entails. It is useful when the family history identifies the patient as being at risk for an inborn condition. In this case, the patient should understand that genetic screening can act as a confirmatory test so that the patient gets to prepare for any eventualities. This is particularly true when the disease onset is dependent on multifactorial components. By conducting the test, the patient can confirm the presence of the disease and control the multifactorial components to reduce the risk of disease onset (McCance et al., 2013).


Acton, A. (2013).  Cystic fibrosis: new insights for the healthcare professional (2013 Edition). Atlanta, GA: ScholarlyEditions.

Cleveland Clinic (2018). Cystic Fibrosis. Retrieved from

McCance, K. L., Huether, S. E., Brashers, V. L. & Rote, N. S. (2013). Pathophysiology: The biologic basis for disease in adults and children (7th ed.). St. Louis, MO: Mosby Elsevier.

Quinn, G., de Paor, A. & Blanck, P. (2015). Genetic discrimination: transatlantic perspectives on the case for a European-level legal response. New York, NY: Routledge Cystic Fibrosis Pathophysiology

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