Cystic Fibrosis
Cystic fibrosis: Overview and Implications
Christopher Phillips, SN BTC
Blackhawk Technical College
Health Promotion
02/14/13
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
Christopher Phillips, SN BTC
Blackhawk Technical College
Health Promotion
02/14/13
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
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.