Cystic Fibrosis, also known as mucoviscidosis, is a disabling and fatal genetic disorder inherited as an autosomal recessive trait (OMIM #219700). This disorder is lethal by 2 years old without treatment making it the most frequent lethal hereditary disorder of childhood. Nowadays with treatment, the affected can live for 25 to 30 years or more. Within the U.S. white population, CF has an average frequency of 1 in 2000 live births. The frequency is significantly less among other races (Human Heredity). CF is characterized by the abnormal transport of chloride and sodium ions across the epithelium causing thick, viscous secretions. CF affects the pancreas, liver, intestines, sinuses, sex organs, but most critically the lungs (“Cystic Fibrosis”, 2011). The production of thick mucus in the pancreas clogs the enzyme carrying ducts, interfering with proper digestion. It also blocks the airways in the lungs causing difficulty in breathing, and eventually developing obstructive lung disease and infections that lead to premature death. Most deaths in CF occur from lung infections (Human Heredity).
CF is caused by a mutation in the Cystic Fibrosis Transmembrane-conductance Regulator (CFTR) gene on chromosome 7. CFTR is 1 of the 9 Chloride channel proteins now known in humans. It provides instructions and transportation of chloride ions into and out of cells. This protein regulates 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 codon, delta F508, deletion on...
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...ns are used “because they reach the airways quickly and easily.” Commonly prescribed inhaled medications include mucolytics, antibiotics, bronchodilators, and anti-inflammatory medicines. Mucolytics reduces the stickiness of the mucus and loosens it. Antibiotics are the main treatment for treating or preventing lung infections. They can be given orally, inhaled, or intravenous. Bronchodilators relax the muscles around the airways dilating them. These medicines help improve or prevent lung infections, reduce swelling, thin mucus, and dilate airways. Anti-inflammatory medicines reduce swelling of airways due to continuous infections.
(“Therapies for Cystic Fibrosis,” 2012).
“Life expectancy in cystic fibrosis (CF) has improved substantially over the last 75 years, with a median predicted survival now approaching 40 years (Clancy & Jain, 2012).
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