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  • Essay / Cystic fibrosis or cystic fibrosis - 1082

    Cystic fibrosisCystic fibrosis, also known as cystic fibrosis, is a debilitating and fatal genetic disease inherited as an autosomal recessive trait (OMIM #219700). This disease is fatal from the age of 2 without treatment, making it the most common fatal hereditary disease of childhood. Today, with treatment, people affected can live 25 to 30 years or more. Among the white population of the United States, CF has an average frequency of 1 in 2,000 live births. The frequency is significantly lower among other races (human heredity). Cystic fibrosis is characterized by abnormal transport of chloride and sodium ions across the epithelium, causing thick, viscous secretions. CF affects the pancreas, liver, intestines, sinuses, sexual organs, but especially the lungs (“Cystic Fibrosis”, 2011). The production of thick mucus in the pancreas clogs the ducts carrying enzymes, interfering with proper digestion. It also blocks the airways in the lungs, causing difficulty breathing and eventually developing obstructive lung disease and infections leading to premature death. Most cystic fibrosis-related deaths are due to lung infections (human heredity). Cystic fibrosis is caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on chromosome 7. CFTR is one of 9 chloride channel proteins now known in humans. It provides instructions and transport of chloride ions into and out of cells. This protein regulates the components of sweat, digestive fluids and mucus. CFTR is a large gene containing 1,480 amino acids, giving rise to high genetic heterogeneity (Wilschanski, 2010). There are over 1,500 mutations that can produce CF (Bobadilla, Macek, Fine, & Farrell, 2002). However, the majority of the diseased population has a deletion of the codon, delta F508, middle of paper. ......ns are used “because they reach the respiratory tract quickly and easily”. Commonly prescribed inhaled medications include mucolytics, antibiotics, bronchodilators, and anti-inflammatory medications. Mucolytics reduce the stickiness of mucus and relax it. Antibiotics are the main treatment to treat or prevent lung infections. They can be administered orally, inhaled or intravenously. Bronchodilators relax the muscles around the airways by dilating them. These medications help improve or prevent lung infections, reduce swelling, thin mucus, and dilate the airways. Anti-inflammatory medications reduce swelling in the airways due to ongoing infections. (“Therapies for Cystic Fibrosis,” 2012). “Life expectancy in cystic fibrosis (CF) has improved significantly over the past 75 years, with predicted median survival now approaching 40 years. years (Clancy and Jain, 2012).