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Essay on Cystic Fibrosis


Cystic fibrosis is an autosomal recessive genetic disorder that affects the lungs and digestive system. A mutation causes the disease in the cystic fibrosis transmembrane conductance regulator (CFTR) gene (Fonseca et al., 2020). CF is the most common genetic disorder affecting children and affects approximately 30,000 Americans (Farooq et al., 2020). The cause of CF is unknown, but it is believed to be a combination of genetic, environmental, and lifestyle factors. Research shows that CF can cause serious health problems, including respiratory problems, heart disease, and diabetes. CF patients must take multiple medications to maintain their health and quality of life (Fonseca et al., 2020). To help people with CF live as normal a life as possible, the CF Foundation has funded over $600 million in research (Bell et al., 2020).

Primarily seen in Caucasians, CF is diagnosed in up to 1 out of every 3000 babies. Males are affected more often than females. The average age at diagnosis is around six years old. CF is a life-long condition, and patients require daily medication to manage the symptoms. There is no cure for CF, but there are treatments that can improve the quality of life (De Boeck, 2020). According to Fonseca et al. (2020), patients with CF must take various medications to control their symptoms, including antibiotics and inhalers.

In some cases, surgery may be necessary to correct breathing problems. Patients with CF should also maintain a healthy lifestyle by eating a balanced diet and exercising. The normal anatomy of the significant body system is affected (Fonseca et al., 2020).

Normal anatomy of the major body system affected 

Cystic fibrosis affects the lungs, pancreas, liver, intestine, and sweat glands. The lungs produce mucus that is thick and sticky. This mucus clogs the airways and makes it difficult to breathe. The pancreas produces enzymes that help the body break down and absorb food. The liver produces bile, which allows the body to break down and absorb fats (Fonseca et al., 2020). According to Wang et al. (2020), the intestine absorbs nutrients from food. The sweat glands produce sweat that helps regulate body temperature. Normal anatomy for cystic fibrosis includes an abnormal fluid accumulation in the lungs, pancreas, intestine, and elsewhere. The cause of this abnormality is not fully understood, but it likely has something to do with how the cystic fibrosis gene works. This accumulation of fluid causes inflammation and damage to tissues. As a result, people with cystic fibrosis often have difficulty breathing and digesting food. They may also risk developing other conditions, such as liver disease and pancreatic cancer (Wang et al., 2020).

Normal physiology of the major body system affected 

The major body system affected by Cystic fibrosis is the lungs. The lungs are responsible for taking in oxygen and expelling carbon dioxide. The lungs are affected in a person with Cystic fibrosis because the mucus is thick and sticky, which causes the airways to become blocked, making breathing difficult. The mucus also traps bacteria, which can lead to infection. The lungs may also be damaged by the inflammation that is caused by the mucus. This damage can cause the lungs to collapse, called bronchiectasis (Fonseca et al., 2020). The main problem with the digestive system in people with Cystic fibrosis is that the mucus blocks the intestine and the pancreas, which causes a lot of food to get stuck in the intestines. The food then blocks the pancreatic ducts, which prevents enzymes from being able to break down food, which can lead to malnutrition and constipation (Fonseca et al., 2020).

Mechanism of Pathophysiology of Cystic Fibrosis

Cystic fibrosis is an autosomal recessive genetic caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This gene encodes a protein involved in transporting chloride ions across cell membranes. The CFTR protein is found in the epithelial cells that line the respiratory tract and the digestive system. The mutation in the CFTR gene leads to the production of an abnormal CFTR protein. This abnormal CFTR protein cannot transport chloride ions across cell membranes, which results in the accumulation of salt and water in these organs (Paris et al., 2022).

Cystic fibrosis pathophysiology is caused by the accumulation of salt and water in the respiratory, digestive, and reproductive systems. This accumulation leads to the development of chronic lung infections, pancreatitis, and infertility (Fonseca et al., 2020). Paris et al. (2020) argue that the abnormal CFTR protein also affects the normal anatomy and physiology of people with Cystic Fibrosis. For example, the abnormal CFTR protein leads to a reduction in respiratory function. This decreased respiratory function increases exposure to harmful bacteria and viruses that can cause chronic lung infections (Paris et al., 2020).

The reduced function of the digestive system also leads to the accumulation of salt and water in this organ. This accumulation can lead to pancreatitis and infertility (Paris et al., 2022). The abnormal CFTR protein also affects the normal anatomy and physiology of people with Cystic Fibrosis by affecting the production of sweat and mucus. Sweat and mucus are essential components of the body’s immune system. The reduced production of these fluids leads to an increased susceptibility to respiratory infections, pancreatitis, and infertility (Bergeron & Cantin, 2019).

The Prevention of Cystic Fibrosis

Cystic Fibrosis can be prevented by genetic counseling and prenatal diagnosis, effective antibiotics treatment of respiratory tract infections in young children, and avoidance of environmental pollutants. However, the available scientific literature does not indicate any specific prevention protocol (Fonseca et al., 2020). Additional research is needed to determine whether specific interventions can be effective in preventing cystic fibrosis. A possible prevention protocol for cystic fibrosis might include genetic counseling to identify carriers of the CF gene. Other measures may include prenatal diagnosis to ensure that pregnant women are aware of the potential for developing this disease if they have a child with CF and effective antibiotic treatment for respiratory tract infections in young children Farooq et al., 2020). Avoidance of environmental pollutants might also be effective in preventing cystic fibrosis. Still, additional research is needed to determine the specific effects of these pollutants on the development of this disease (Schwarz et al., 2018).

The Treatment of Cystic Fibrosis

The mainstay of treatment for cystic fibrosis is daily therapy to remove mucus from the lungs, prevent infection, and help the person breathe more efficiently, which may include: Firstly, Chest physical therapy (CPT). CPT, also called percussion, is a technique in which a physical therapist uses cupped hands to clap on the person’s back and chest, which helps loosen and remove mucus from the lungs. Another technique is the use of Inhaled Corticosteroid Nebulizers (ICN). ICN is a device that helps deliver a precise dosage of the inhaled corticosteroid, bronchodilator, and antibiotic. A breathing tube may also be necessary in some cases (Schwarz et al., 2018).

Mucus-clearing medicines may also be prescribed for people with cystic fibrosis if their lungs are not clearing mucus well enough. These medicines help to break down thick mucus so it can be easily removed from the lungs. Some of these medicines include amoxicillin, clarithromycin, and azithromycin. Other treatments may include supplemental oxygen therapy and pulmonary rehabilitation (a type of physical therapy that helps people learn how to use their muscles to improve their breathing) (Fonseca et al., 2020).


Generally, as the paper explains, CF results typically from a CF gene mutation. The CF gene is responsible for creating the proteins that makeup CF air sacs and tubes. These proteins help regulate the flow of salt and water through the body. CF is preventable with regular screenings for the disease. The primary treatment for CF is antibiotics and air conditioning therapy to keep the lungs and digestive system cool. There is no cure for CF, but treatments are available to help improve symptoms.CF is a life-threatening genetic disorder that affects the lungs and digestive system. Thus, people need to live healthy lifestyles to prevent CF. Screening is the key to early detection and treatment of this disease, improving the quality of life for those living with it. It is advisable for people with CF to live in a dry and relaxed environment, as this will help prevent CF’s development.


Fonseca, C., Bicker, J., Alves, G., Falcão, A., & Fortuna, A. (2020). Cystic fibrosis: Physiopathology and the latest pharmacological treatments. Pharmacological Research162, 105267.

Farooq, F., Mogayzel, P. J., Lanzkron, S., Haywood, C., & Strouse, J. J. (2020). Comparison of US federal and foundation funding research for sickle cell disease and cystic fibrosis and factors associated with research productivity. JAMA network open3(3), e201737-e201737.

Bell, S. C., Mall, M. A., Gutierrez, H., Macek, M., Madge, S., Davies, J. C., … & Ratjen, F. (2020). The future of cystic fibrosis care: a global perspective. The Lancet Respiratory Medicine8(1), 65-124.

De Boeck, K. (2020). Cystic fibrosis in the year 2020: A disease with a new face. Acta paediatrica109(5), 893-899.

Wang, D., Ma, Y., Tong, X., Zhang, Y., & Fan, H. (2020). Diabetes mellitus contributes to idiopathic pulmonary fibrosis: a review from clinical appearance to possible pathogenesis. Frontiers in Public Health8, 196.

Parisi, G. F., Mòllica, F., Giallongo, A., Papale, M., Manti, S., & Leonardi, S. (2022). Cystic fibrosis transmembrane conductance regulator (CFTR): beyond cystic fibrosis. Egyptian Journal of Medical Human Genetics23(1), 1-10.

Bergeron, C., & Cantin, A. M. (2019, December). Cystic fibrosis: pathophysiology of lung disease. In Seminars in respiratory and critical care medicine (Vol. 40, No. 06, pp. 715-726). Thieme Medical Publishers.

Schwarz, C., Hartl, D., Eickmeier, O., Hector, A., Benden, C., Durieu, I., … & Barry, P. J. (2018). Progress in definition, prevention, and treatment of fungal infections in cystic fibrosis. Mycopathologia183(1), 21-32.


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