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Posted: March 3rd, 2023

Cystic Fibrosis

Cystic fibrosis (CF) is a prevalent autosomal disease caused by autosomal passive alleles. Alles are different kinds of genes located at the same locus on the chromosome (McCance and Huether, 2019). Cystic fibrosis is a life-limiting autosomal recessive disease that affects around 30,000 people in the U.S. and 70,000 around the world (Peters, 2014). It is the most commonly known deadly disease in white children, occurs at about 1 in every 2500 births, and about 1 in every 25 whites carries a duplicate of the allele that can cause cystic fibrosis (McCance and Huether, 2019). In various organ systems, most commonly gastrointestinal, pneumonic and genitourinary, this hereditary problem causes the collection or accumulation of thick gooey discharges. The affected individuals usually battle recurrent respiratory infections, pancreatic insufficiency, and malnutrition. The transpiration or sweat glands are also affected.

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Cystic fibrosis is caused by a change in the quality of the cystic fibrosis transmembrane conductance controller (CFTR) (Brown, White, and Tobin, 2017). The movement of chloride and sodium particles across epithelial cell layers or membranes is regulated by the CFTR generated by this gene. The cystic fibrosis gene encodes a protein product that forms chloride channels in the membranes of specific epithelial cells, as per McCance and Huether (2019). CFTR transports proteins through membranes and works with the epithelial sodium channels simultaneously to maintain the balance of salt, fluid and PH in different epithelial membranes. Impairment in the transport of chloride ions causes a salt imbalance that leads to anomalous, thick and dehydrated discharges of mucus or body fluid. Approximately 1,900 CFTR mutations have been recognized as indicated by Peters (2014). F508del, with heterozygotes and homozygotes making up 87 percent and 47 percent of patients with cystic fibrosis, is the most commonly known mutation. According to McCance and Huether (2019), associations (marriage between related individuals or people) is a factor in the creation of offspring with recessive diseases or sickness, such as cystic fibrosis. This is on the basis that related individuals or persons are bound to have similar alleles that cause recessive disease.

The patient showed the side effects of colic, an inability to gain weight despite having a good appetite, a salty taste, a chest clog, and pneumonia, as indicated in the case study. These introductions are due to a defect in the transport of chloride ions and a salt imbalance that causes abnormally thick mucus or body fluid secretions in the various secretive glands. They cause colic, distension, malabsorption, inability to thrive, and meconium ileus in newborn children to the point where secretions accumulate in the digestive tract (Brown, White, and Tobin, 2017). It can hinder the pancreas, leading to a lack of healthy sustenance. With mucus-inducing cough, wheezing, dyspnea, chest clog, and pneumonia, the lungs may be hindered. An undescended testicle, congenital bilateral absence of vas deferens and infertility in women are part of the genitourinary presentation.

Genetic Factor

Genes are the essential hereditary units within a cell nucleus known as chromosomes. There are 46 chromosomes in each person, 23 taken from each parent. In CF, each parent carries one anomaly CF gene and one normal CF gene, but due to the fact that the normal CF gene dominates the abnormal CF gene, the disease does not appear. In order to have CF, the child must acquire two abnormal CF genes, one from each parent. Since it is a non-sex-connected chromosome, CF can also occur in both males and females. Parents of children with autosomal recessive diseases, for example, CF is a heterozygous carrier of the genes of the disease, so there is a risk of 25 per cent of disease or disease in other children. Before considering having children, at-risk parents should seek hereditary advice. In the case of an increasing number of autosomal recessive hereditary or genetic diseases, parents may also benefit from Carrier detection tests.

Diagnosis and Treatment

The diagnosis of CF is made by means of a screening test for infants or newborns. A regular sweat test is performed to give a full diagnosis of CF if the test is positive for CF. The management of CF depends on the severity and progression of the disease. These include breathing, immunization, symptomatic therapy, non-intrusive therapy, physical therapy, exercise, and medication therapy (Brown, White, and Tobin, 2017). Other measures of physiotherapy, such as chest percussion and breathing, are often carried out with the ultimate aim of expanding and draining secretions from the lungs. In some extreme cases, lung transplantation may be considered (Mikesell, 2019). Dietary supplementation by prescription, diet and vitamins improves nutrition. In most cases, numerous antimicrobials and enzyme replacements are consistently used in the treatment of CF patients.


Cystic fibrosis is an inherited multisystem disease that affects the function of CFTR, resulting in chronic pulmonary disease, gastrointestinal interference, and the blocking of exocrine organs or glands. In Caucasians, CF predominates over other ethnic groups, approximately 1 in 3500 in North America and Europe, and new cases are analyzed annually (McCance & Huether, 2019). Diagnosis depends on the clinical indication and laboratory findings of the sweat test. It is important to maintain a follow-up appointment with the healthcare provider and management team due to the nature and complications of the disease.


Brown, S. D., White, R., & Tobin, P. (2017). Keep them breathing: Cystic fibrosis pathophysiology diagnosis and treatment. Journal of The American Academy of Physician Assistants, 30(5): 23-28. Retrieved from to an external site.

McCance, K. L. & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in adults and children (8th ed.). St. Louis, MO: Mosby/Elsevier.

Mikesell, H. F. M. (2019). Cystic fibrosis and genetics. Salem Press Encyclopedia of Health.

Retrieved December 2, 2020 from

Peters, S. (2014). Cystic fibrosis: A review of pathophysiology and current treatment recommendations. The Journal of the South Dakota State Medical Association, 67(4): 148-51, 153. Retrieved from to an external site.


Cystic fibrosis (CF) is a genetic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which leads to the accumulation of thick and sticky mucus in various organs such as the lungs, pancreas, and liver. CF affects around 30,000 people in the U.S. and 70,000 around the world. It is an autosomal recessive disease that primarily affects Caucasians, occurring in about 1 in every 2500 births. CF causes recurrent respiratory infections, pancreatic insufficiency, and malnutrition. It can also affect the sweat glands and the reproductive system. The diagnosis of CF is made through screening tests, and management depends on the severity and progression of the disease, which includes various therapies and medications.

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