Genetic Disorders: Cystic Fibrosis

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Cystic Fibrosis Cystic Fibrosis (CF) or mucoviscidosis is a recessive genetic disorder that affects most critically the lungs, and also the pancreas, liver, and intestine. It is guessed that CF appeared about 3,000 BC because of migration of people, gene mutations, and changes in diet. CF was not medically recognized until the 1930s, certain characteristics of CF were recognized earlier. Texts from Germany and Switzerland in the 19th century “warned Wehe dem Kind, das beim Kuß auf die Stirn salzig schmekt, er ist verhext und muss bald sterbe or "Woe to the child who tastes salty from a kiss on the brow, for he is cursed and soon must die," recognizing the association between the salt loss in CF and illness” (PubMed Health.) In 1938 Dorothy…show more content…
As of 2006 in the United States, 10 percent of cases are diagnosed shortly after birth as part of newborn screening programs. The newborn screen initially measures for raised blood concentration of immunoreactive trypsinogen (IRT). Infants with an abnormal newborn screen need a sweat test to confirm the CF diagnosis. Most states and countries do not screen for CF routinely at birth. Therefore, most individuals are diagnosed after symptoms give the clue an evaluation for cystic fibrosis is needed. The most commonly used form of testing is the sweat test. Sweat-testing involves application of a medication that stimulates sweating. The sweat is then collected on filter paper or in a capillary tube and analyzed for irregular amounts of sodium and chloride. People with CF have increased amounts of sodium and chloride in their…show more content…
The management of cystic fibrosis has improved significantly over the past 70 years. While infants born with cystic fibrosis 70 years ago would have been unlikely to live beyond their first year, infants today are likely to live well into adulthood. Recent advances in the treatment of cystic fibrosis have meant that an individual with cystic fibrosis can live a fuller life less burdened by their condition. The foundations of management are active treatment of airway infection, and encouragement of good nutrition and an active lifestyle. Management of cystic fibrosis continues throughout a patient's life, and is aimed at maximizing organ function, and therefore quality of life. At best, current treatments delay the decline in organ function. Because of the wide variation in disease symptoms treatment typically occurs at specialist multidisciplinary centers, and is made specifically for the individual. Objectives for therapy are the lungs, gastrointestinal tract, the reproductive organs and psychological

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