Cystic Fibrosis Essay -- Biology Genetic Defect

CF is caused by an inherited recessive genetic defect that is most prevalent in the white population. About 1 in 23 people in the United States carry at least one defective gene, making it the most common genetic defect of its severity. CF patients suffer from chronic lung problems and digestive disorders caused by a cellular defect in the transport of chloride ion. The problem in chloride handling results in loss of chloride in sweat which, in fact, is the basis for the clinical diagnosis of CF. As a consequence of the lesion in chloride transport patients' lungs become covered with sticky mucus which is difficult to remove and can promote infection by bacteria. Many people with CF require frequent hospitalizations and continuous usage of antibiotics, enzyme supplements, and other medications. In the past, the life expectancy of people with CF used to only be 8 years. However, with today's many medical advances, the average life expectancy is just under 30 years and is continuing to increase. Common cystic fibrosis symptoms involve: high amounts of salt (sodium and chloride) and potassium in sweat constant coughing and wheezing large amounts of mucus in the lungs recurring pneumonia failure to gain weight frequent, greasy, bulky, and strong-smelling bowel movements through the small intestine enlargement of fingertips and toes due to insufficient amount of oxygen in these areas Males with CF are sterile, and women who have CF can have problems with their menstrual cycles and becoming pregnant. CF slows down sexual development but brings no adverse effect upon it. Cystic Fibrosis: Fact or Fiction? "Woe to that child which when kissed on the forehead tastes salty. He is... ...olyte composition affects bacterial survival which provides an explanation for why CF airways are not maintained as a sterile environment. The data speculates that the bactericidal factor produced by airway epithelia may be a defensin-like molecule because it has characteristics of such factors. The results presented in the paper also link the molecular defect in CFTR Cl channels to the pathogenesis of CF lung disease. Most importantly the data suggests new approaches for therapy such as measurements of salt concentration and bactericidal activity may be clinically relevant assays for determining the effectiveness of potential therapeutic interventions. The data also raises the possibility that new interventions designed to correct the abnormally high salt concentration in CF fluid could be of benefit in treating or preventing airway infections in people with CF.