Cystic Fibrosis Case Studies

Introduction Cystic fibrosis is the most frequent lethal genetic disease among Caucasians (Davis, 2006). One in every two thousand, five hundred Caucasian newborns is affected with CF, and the highest rates are among populations with ancestry in Northern Europe (Collins, 1992). Carriers can be as common as one in every twenty-five people; however, rates are typically lower within other ethnicities (Collins, 1992). Among those affected, the severity of the disease can vary. A small percentage of patients are born with an intestinal obstruction called a meconium ileus, and another small percentage later develop liver disease (Collins, 1992).
CF is caused by the mutation of a gene located on chromosome 7, which encodes for the protein Cystic Fibrosis …show more content…
Through the 1930s children born with cystic fibrosis had a median survival age of around 6 months old (Collins, 1992). Autopsies of children in 1938 finally allowed for the distinction between celiac disease and cystic fibrosis, which led to improved treatment (Collins, 1992). By the 1950s care centers for patients with cystic fibrosis were establishing treatment priorities, and these priorities, in turn, improved life expectancy (Collins, 1992). These centers established the need for attention to nutrition, airway clearance, and treatment of lung infections, which they called the three pillars of cystic fibrosis treatment (Collins, 1992). These pillars are still referred to for CF maintenance. In 1959 the sweat test was standardized as a means of diagnosing cystic fibrosis, and in 1983 they defined chlorine transport as the primary defect (Collins, 1992). The gene itself was discovered in 1989 by the use of positional cloning, the first ever to be found using positional cloning whose function was entirely unknown (Davis, 2006). That discovery opened the door for further understanding of the basic molecular defect in cystic