Cystic fibrosis: Overview and Implications
Christopher Phillips, SN BTC
Blackhawk Technical College
Cystic Fibrosis: Overview and Implications
Cystic fibrosis (CF) is a worldwide autosomal recessive disorder genetically inherited that causes chronic progressive health alterations of the bodily systems (Lyczak et al, 2004, p. 194). Mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR), located on the long arm of chromosome seven, results in many abnormal traits with organ function, specifically the respiratory, reproductive, and digestive systems that are genetically passed down from parents to their children (Lomas & Fowler, 2010, p. 30). A mutation causes the CFTR gene to be defective, thus producing an altered structure of chloride and sodium channel proteins found in the cells of the exocrine glands responsible for producing mucus, sweat, and digestive juices, which are vital for the normal functioning of the respiratory and digestive systems (Lomas & Fowler, 2010, p. 31). According to the Cystic Fibrosis Foundation (CFF) (2013), CF causes the body to produce unusually thick and sticky mucus which clogs the lung passages and facilitates life-threatening infections such as recurrent pneumonia that greatly decreases the normal life expectancy; in addition, CF obstructs anabolic processes of the pancreas to produce natural enzymes which promote the digestion and absorption of the food we ingest causing malabsorption (www.cff.org). According to McKinney et al., (2009), CF produces an array of symptoms that include: protuberant abdomen, barrel chest, digital clubbing, and thin extremities (p.1187). There is evidence that suggests that nearly all males with CF have an absence of the vas deferens, resulting in obstructive azoospermia, which occlude mature male reproductive cells called spermatozoa; in addition, only 20% of females are infertile, which is directly related to the thickening of the cervical mucus decreasing the ability for sperm to enter the uterus properly (Lewis et al., 2011, p. 632). The mucolytic affects of CF initially have their impact on the small airways of the upper respiratory tract causing symptoms of frequent cough, and chronic bronchiolitis; furthermore, lower airways are soon affected because the mucus becomes dehydrated and tenacious due to excessive sodium re-absorption which facilitates cilia immobilization, air trapping, hyperinflation, pneumonia, and destruction of lung tissue (Lewis et al., 2011, p.632). Persistent respiratory effects cause the following clinical manifestations: greenish colored sputum production, wheezing, shortness of breath, inflamed nasal passages, and activity intolerance (Lomas & Fowler, 2010, p. 32). Physical findings will elicit signs of mal-absorption leading to excessive weight loss, fatty stools, and failure to thrive (Lomas & Fowler, 2010, p. 31). Other physical findings associated with CF include concentrations of salt 60 mmol/L or greater on the skin is likely to lead to a diagnosis of CF (Lomas & Fowler, 2010, p. 32). Because CF is an inherited disorder, risk factors for getting the disease mainly relate to family genetics and racial background; moreover, CFTR mutations occur most frequently in white males with Northern European ancestry, but can affect all races (Lomas & Fowler, 2010, p. 30). According to Lewis et al. (2011), risk factors that greatly increase the likelihood of inheriting the disorder is determined by our parent’s deoxyribonucleic acid (DNA) (p. 631). If one parent is physically affected by CF, but the other is not nor is a recessive carrier, all of their children will be carriers; however, none will have the disease (Lomas & Fowler, 2010, p. 33). When both parents are carriers of the disease, but unaffected physically by the disease, each time they conceive a child there is a 50% chance that their child will also be a carrier, a 25% chance that their...
References: Cystic Fibrosis Foundation. (2013). About cystic fibrosis: what you need to know. Retrieved from http://www.cff.org/AboutCF/ Accessed on Jan 24, 2013.
Green, R.D., Grosse, S.D., Earley, M.A., & Mei, J.B. (2005). Newborn Screening for Cystic Fibrosis: A Public Health Response. Centers for Disease Control and Prevention. Retrieved from www.cdc.gov/genomics/about/reports/2005/chap07.htm
Lewis, S., Dirkson, S., Heitkemper, M., Bucher, L., & Camera, I. (2011). Medical-surgical nursing: Assessment and management of clinical problems (8th ed.). St. Louis, MO: Mosby.
Lomas, P.H. & Fowler, S.B. (2010). Patients and Children with Cystic Fibrosis: A Family Affair. American Journal of Nursing, 110(8), 30-37.
Lyczak, J.B., Cannon, C.L., & Pier, J.B. (2004). Lung Infections Associated with Cystic Fibrosis. National Center for Biotechnology Information 15(2), 194-222.
McKinney, E., James, S., Murray, S., & Ashwill, J. (2009). Maternal child nursing (3rd Ed.) St. Louis, MO: Elsevier Saunders.
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