Cystic Fibrosis: Genetics and Gender Factor

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Table of Contents

Introduction
Patient Scenario
Factor’s Influence
Pathophysiology
Conclusion
References

Introduction

While being mostly connected to one’s inheritance and predisposition, genetic disorders often produce different effects on people according to their specific factors such as gender, age, or habits (Hammer & McPhee, 2014). One of these conditions is cystic fibrosis – a genetic disorder that causes changes in many organs, including one’s lungs, intestines, and kidneys (Harness-Brumley, Elliott, Rosenbluth, Raghavan, & Jain, 2014; Huether & McCance, 2017). According to statistics, this disorder is among the most prevalent genetic conditions that have fatal outcomes in the US (Harness-Brumley et al., 2014). Since cystic fibrosis affects different parts and organs of one’s body, these results are not surprising.

Because, there also exist differences in patients’ response to various impacts of cystic fibrosis based on their inherent characteristics. Women with this disorder, in particular, often have more negative outcomes than men (Harness-Brumley et al., 2014). In my personal clinical experience, a young woman with cystic fibrosis developed a respiratory infection that, while being impacted by her genetic condition, was further complicated by the specifics of her gender.

Patient Scenario

The patent was a young woman (18 years old) with a persistent cough and mucus buildup. She stated that she developed respiratory infection very often, although she did not think that they could be connected to some other condition. She did not recall any family history initially, then remembering that one of her grandparents’ cousins had similar problems. She also did not know if she had ever been screened for that disorder before, thus raising the question of her symptoms being related to a genetic disorder. After acquiring that information, healthcare providers decided to perform diagnostic tests to check whether she had cystic fibrosis, and their assumption was confirmed. The patient also stated that the majority of her infections were rather severe while recalling that her relative’s condition was less challenging for him.

Factor’s Influence

The impact of gender is not the most researched concept in regards to cystic fibrosis. As Harness-Brumley et al. (2014) point out, the amount of scholarly literature on this subject is not sufficient enough to make any conclusive statements. Nevertheless, the authors find that women often acquire respiratory infections that have much more severe symptoms’ than those of their male counterparts (Harness-Brumley et al., 2014). Moreover, by comparing mortality rates, they had also discovered that such infections affect female patients more frequently than male ones. Thus, the fact that the young woman noted some differences between her and her relative’s condition might have a connection to her gender.

Pathophysiology

The development of cystic fibrosis is based on the defects in the CFTR gene – mutations leading to the CFTR protein channel not working appropriately (Cutting, 2015). It is responsible for the flow of Cl- ions through the cells in organs such as lungs. In a healthy body without genetic disorders, this channel allows the ions to move freely without obstacles (Hammer & McPhee, 2014). As a contrast, in patients with cystic fibrosis, the CFTR protein does not let the ions to flow at a consistent pace, creating buildup which turns into mucus in one’s lungs (Cutting, 2015). In relation to gender, it is possible that estrogen further affects these channels by changing the consistency of the mucus, raising its viscosity (Harness-Brumley et al., 2014). Thus, a woman acquires a respiratory infection that is persistent, difficult to treat, and drug-resistant.

Conclusion

Gender is a factor that can change one’s symptoms, pathophysiology, and even the possibility of a positive outcome. As for cystic fibrosis, women with this disorder can suffer from more severe infections than men due to estrogen. This hormone affects the consistency of the mucus and its susceptibility to medications. It is possible that the patient in the discussed case acquired respiratory infections that were impacted by her gender.

References

Cutting, G. R. (2015). Cystic fibrosis genetics: From molecular understanding to clinical application. Nature Reviews Genetics, 16(1), 45-56. Web.

Hammer, G. G., & McPhee, S. (Eds.). (2014). Pathophysiology of disease: An introduction to clinical medicine (7th ed.) New York, NY: McGraw-Hill Education.

Harness-Brumley, C. L., Elliott, A. C., Rosenbluth, D. B., Raghavan, D., & Jain, R. (2014). Gender differences in outcomes of patients with cystic fibrosis. Journal of Women’s Health, 23(12), 1012-1020. Web.

Huether, S. E., & McCance, K. L. (2017). Understanding pathophysiology (6th ed.). St. Louis, MO: Mosby.

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Cystic Fibrosis: Genetics and Gender Factor

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