Cystic Fibrosis: Diagnostics, Pathophysiology, and Prognosis

Diagnostic

Cystic fibrosis is a common disease that is life-threatening and reduces the lifespan of people, especially whites. According to Brown et al. (2017), this disease occurs in 1 out of every 3,500 children born every year in Northern Europe. The disease affects over 30,000 people in the United States of America and over 80,000 globally (Brown et al., 2017). The illness affects several body systems, such as the reproductive system, digestive system, and respiratory system. However, its effects on the respiratory system, especially the lungs, are the main causes of morbidity and mortality.

In the respiratory system, the lungs and nose are the main organs affected, with the former having the highest frequency of 99% (Naehrig et al., 2017, p. 565). It leads to the development of fibrosis and chronic pneumonia in the lungs and chronic rhino-sinusitis and polyposis of the sinuses and noses. In the digestive system, the liver, pancreas, and intestines are affected. Some of the conditions associated with cystic fibrosis in this system include steatosis, cirrhosis, cholecystolithiasis, diabetes mellitus, meconium ileus, and distal intestinal obstruction. Patients develop obstructive azoospermia when the reproductive system is involved, and it has a frequency of 97% and the affected males become infertile (Naehrig et al., 2017, p. 565).

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Chromosome Number

According to Naehrig et al. (2017), the disease is caused by a mutation of the cystic fibrosis transmembrane conductance regulator (CFTR). It is an autosomal recessive gene that is inheritable, and there is a 25% chance of siblings of affected people developing cystic fibrosis (Naehrig et al., 2017). According to Rafeeq and Murad (2017), the CFTR gene is located at 7q31.2, and there are over 1900 mutations that can occur at this gene, and the most common one is the F508del. The CFTR protein is found in every organ, producing mucus and cells of the immune system and the heart.

Pathophysiology

The protein regulates the chloride channel by allowing the entry of chloride ions into mucus-producing cells. An osmotic gradient is created and it draws water, which makes the mucus thin. When a mutation of the CFTR gene occurs, the ion transport channel becomes defective. This leads to thick mucus building up in several organs throughout the body, which leads to obstruction of the body systems. Mucociliary clearance activity is decreased, and the accumulated mucus provides an ideal environment for bacteria such as Staphylococcus aureus, Pseudomonas, and Haemophilus influenza to grow (Sheena et al., 2017). As the bacteria multiply in the respiratory system, they cause an inflammatory response, a chronic infection, and consequently, the airways are destroyed.

Pathophysiology in the Respiratory System

The increased thick mucus stimulates an inflammatory response in the respiratory system. There is an increased concentration of neutrophils and pro-inflammatory mediators such as TNF- α, IL-1β, IL-6, IL-8, and IL-17 (Roesch et al., 2018). These substances are essential in the host defense mechanism, but they cause an immunopathology by promoting an influx of neutrophils when produced in excess. Also, the defective ion channels lead to the absorption of sodium ions outside the lumen, causing an increase in water absorption and, consequently, the dehydration of the airway surfaces (Roesch et al., 2018). This also stimulates an inflammatory response in the respiratory system.

Prognosis

According to Naehrig et al. (2017), 87% of patients with this condition develop exocrine pancreatic insufficiency in their first year of life. Therefore, they need a lifelong supplementation of pancreatic enzymes. Moreover, they need a diet rich in calories and fat, and they should supplement with fat-soluble vitamins.

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Insulin therapy is indicated in endocrine pancreatic insufficiency, while liver issues are managed by ursodeoxycholic acid. Broad-spectrum antibiotics are used to manage bacteria, and corticosteroids help in anti-inflammatory therapy. However, anti-inflammatory therapy is not recommended as baseline therapy, but it is used as a complementary, such as in anti-obstructive therapy (Naehrig et al., 2017).

References

Brown, S. D., White, R., & Tobin, P. (2017). Keep them breathing: Cystic fibrosis pathophysiology, diagnosis, and treatment. Journal of the American Academy of PAs, 30(5), 23-27. Web.

Naehrig, S., Chao, C. M., & Naehrlich, L. (2017). Cystic fibrosis. Deutsches Arzteblatt international, 114(33-34), 564–574. Web.

Rafeeq, M. M., & Murad, H. A. S. (2017). Cystic fibrosis: Current therapeutic targets and future approaches. Journal of Translational Medicine, 15(1), 1-9. Web.

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Roesch, E. A., Nichols, D. P., & Chmiel, J. F. (2018). Inflammation in cystic fibrosis: an update. Pediatric Pulmonology, 53(S3), S30-S50. Web.

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