Cystic Fibrosis: Genetic Basis, Symptoms, Diagnosis, and Treatment

This essay provides a comprehensive overview of cystic fibrosis (CF), an inherited genetic condition primarily affecting the lungs, but also impacting the liver, pancreas, intestines, and kidneys. The essay details the long-term effects of CF, including breathing difficulties, coughing, and frequent lung infections due to mucus buildup. It explores other symptoms such as sinus infections, poor growth, and infertility in males. The genetic basis of CF, specifically mutations in the CFTR gene, is explained, emphasizing the deletion of ΔF508. The essay highlights the diagnostic process using sweat and genetic tests, and the management of CF through proactive airway infection treatment, nutrition, and pulmonary rehabilitation. The author intends to study CF, a genetically inherited condition that causes loss of F due to mutations in the CTFR; CF has no known cure and must be managed through the entire life of a sufferer.

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Cystic Fibrosis (CF)
Name
Date

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Abstract
Introduction
Homeostasis is the maintenance of a constant internal environment of an organism; when
this is achieved, the organs and organ systems of the organisms function optimally, ensuring health.
However, homeostasis may be interrupted, leading to various conditions. In this brief abstract, the
cystic fibrosis (CF) condition is discussed
This is an inherited genetic condition that mostly affects the lungs, as well as the liver,
pancreas, intestines, and kidneys (Orenstein, Spahr, & Weiner, 2015, p. 14; Powell, 2013, p. 32).
The long term effects include breathing difficulties and coughing mucus due to frequent infections
of the lungs (Goss, Edwards, Ramsey, Aitken, & Patrick, 2009, p. 258; 'Milton S Hershey Medical
Center', 2011). Other symptoms are sinus infections, fatty stool ('Healthline', 2018; McIntosh,
2018), poor growth and lack of weight gain despite normal nutrition, finger and toe clubbing,
frequent infections of the chest, and shortness of breath or coughing (Langwith, 2009, p. 24;
Bjorklund, 2009, p 12), and infertility in males (Lipshultz, Howards, & Niederberger, 2009, p. 274).
Lung infections occur as a result of airways being clogged due to mucus build up and decreased
mucociliary clearance that cause inflammation, further causing lung disease (Goss, Edwards,
Ramsey, Aitken, & Patrick, 2009, p. 258). Because the pancreas can be damaged and yet it is
responsible for insulin generation in the islets of Langerhans, the condition can cause elevated
blood glucose levels (Atlas & Rosh, 2011).
CF is inherited in an autosomal recessive manner due to mutations in both the gene copies
for CFTR (cystic fibrosis trans membrane conductance regulator) protein (Orenstein, Spahr, &
Weiner, 2015, p. 14). This happens because of the deletion of Δ in the CFTR ΔF508 in which three
nucleotides are deleted that leads to the amino acid phenylalanine (F) being lost at the protein’s
508th position (Liu & Dawson, 2014, p. 5617). CFTR is involved in the production of digestive
fluids, sweat, and mucus and when it is non functional as in cystic fibrosis, the secretions become
thick. People with a single copy of this protein that is working are just carriers and remain normal.
The condition is diagnosed using a sweat test and also genetic testing. There is no known cure for
CF and the only method is management through treatment (Bjorklund, 2009, p 12). The main
approaches to management include proactive airways infection treatment, proper nutrition, and a
lifestyle that is active (Lukacs & Verkman, 2012). Throughout the life of the victim, pulmonary
rehabilitation must be done with the aim of maximizing the function of organs and enhance the
quality of life and antibiotics also help (Griese, 2010).
Conclusion

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In understanding the importance of homeostasis to optimal health, the author intends to
study CF, a genetically inherited condition that causes loss of F due to mutations in the CTFR; CF
has no known cure and must be managed through the entire life of a sufferer

CYSTIC FIBROSIS (CF) 4
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