The Causes and Pathophysiology of Cystic Fibrosis Research Paper

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Introduction

Cystic fibrosis is a genetic condition with a primary symptom of excessive mucous production and resulting lung infections. It is “the most common fatal hereditary lung disease,” (Mall & Hartl, 2014, p. 1042). Symptoms and severity of the disease varies, but all cases are inherited. On the genetic level, cystic fibrosis is an “autosomal recessive disease caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR),” (Stoltz, Meyerholtz & Welsh, 2015, p. 351). There is no cure for cystic fibrosis, which can be deadly, but treatments for the disease have become more advanced, less invasive, and more effective.

Etiology and Risk Factors

Because cystic fibrosis is congenital, disease etiology is genetic. The disease is most prevalent among Caucasians of Western European ancestry. Cystic fibrosis is known as a Mendelian condition, a disease that is actually caused by only one single gene dysfunction or mutation (Cutting, 2015). Being a carrier of CFTR mutations is the only known risk factor for the disease. The disease can be present long before symptoms manifest (Stoltz, Meyerholtz & Welsh, 2015). Therefore, genetic testing may be a critical component in ensuring early interventions to minimize symptom severity and promote longer and better quality of life for patients. In the United States, newborns are routinely screened for cystic fibrosis for this very reason.

Pathophysiological Processes

The pathophysiological processes of cystic fibrosis are relatively straightforward, involving excessive thick mucous production on a cellular level. The excessive mucous clogs essential airways and digestive tracts, leading to lung infections, inability to breathe, and inability to eat or process food.

In a healthy body, cells produce mucous, sweat, and other bodily fluids for lubrication and other functions. Cystic fibrosis is a condition whereby the genetic abnormality causes the mucous secretions to become abnormally and detrimentally thick. The thick secretions clog up critical passageways in the lungs and pancreas. In fact, CFTR dysfunction “may be implicated in the pathogenesis of chronic obstructive pulmonary disease,” (Mall & Hartl, 2014, p. 1042).

Cystic fibrosis “alters the electrophysiological properties across airway epithelia,” (Stoltz, Meyerholtz & Welsh, 2015, p. 353). In addition to air passage clogging, which leads to impeded breathing and lung infections, people with cystic fibrosis also experience digestive problems that can result in malnutrition-related illnesses.

Clinical Manifestations and Complications

Because of rigorous screening procedures in the United States, cystic…

Sources Used in Document:

References

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

Mall, M. A. & Hartl, D. (2014). CFTR: cystic fibrosis and beyond. European Respiratory Journal 2014(44): 1042-1054.

Stoltz, D.A., Meyerholtz, D.K. & Welsh, M.J. (2015). Origins of cystic fibrosis lung disease. The New England Journal of Medicine 372(4): 351-362.


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