Cystic FIbrosis
Cystic fibrosis is the most common lethal inherited disease, affecting about 30,000 patients worldwide. In the past decade, strides in patient management and the development of new pharmacological agents, coupled with scientific and technologic advances, have increased the mean life expectancy of CF patients to approximately 30 years of age (approximately 50% of CF patients live to the age of 30). As early as 30 years ago, the median survival age was 8 years. Chronic lung infections, which lead to declines in lung function, remain the major cause of morbidity and mortality. While several pathogens have been implicated, Pseudomonas aeruginosa-an opportunistic and virulent bacterium-has an affinity for the lung tissue of CF patients. New research efforts, focused on gene mapping as a possible mechanism to identify mutations correlating with increased bacterial virulence, may lead to new therapeutic discoveries and enhanced patient outcomes (Smith, 1999). A pair of genes that are not working properly causes cystic fibrosis. There are more than 700 different mutations that cause cystic fibrosis; however, most cases of CF are caused by relatively few mutations. This makes it possible to screen for C
Most CF patients are diagnosed in childhood. Some patients with mild or unrecognized symptoms may remain undiagnosed until adolescence or young adulthood. Common symptoms include chronic coughing, wheezing, sinus infections, nasal polyps (bumps inside the nose), excessive mucus production, recurrent pneumonia, poor growth, frequent foul smelling stools, enlarged fingertips, and salty tasting skin. The diagnosis of CF is usually made when a sweat test is performed and high levels of salt are found. The sweat glands of people with cystic fibrosis release salt at about five times the concentration released by normal sweat glands. This is the basis for the sweat test. It is also the reason why people affected by CF have salty tasting skin. Genetic testing can also be used to confirm the diagnosis of CF (Ramsey, B., 1999). Cystic fibrosis also affects the reproductive organs, although it affects men and women differently. Males are usually infertile, and females may experience reduced fertility due to thick secretions in the reproductive tract. Women with cystic fibrosis can have children, although the health of the mother may limit this. Childbearing is an exhausting process and some women with CF who have decided to have children have reported that it has severely compromised their health. 98% of men with cystic fibrosis cannot bear children. Sperm is produced in the CF male, but is not correctly transported to the semen because the relevant ductwork is clogged. It may be possible to surgically extract perm from men with cystic fibrosis and in this way allow them to have children (Ramsey, B., 1999). In addition to mechanical stimulation, there are medical treatments that are also useful in helping remove and prevent the viscous secretions. A medical breakthrough in recent years was the discovery that of the three components that make up the thick mucus (protein, bacteria, and DNA of dead white blood cells) the DNA from the WBCs are most r
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Approximate Word count = 1339
Approximate Pages = 5 (250 words per page double spaced)
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