Cystic fibrosis is on of the leading autosomal recessive diseases affecting people worldwide. It generally affects people of European decent more than those from descendants of other countries. Cystic fibrosis has a wide range of phenotypes, and it also can effect several different organ systems, including respiratory, gastrointestinal, and even the reproductive system. The disease is usually fatal, although the average life expectancy is about 40 years old. The mutation effects the regulation of chloride ion channels. Cystic fibrosis involves mutations on the cystic fibrosis transmembrane conductance regulator (CFTR) gene and diagnosis commonly requires an analysis of this gene amongst other things. There is an extensive amount of possible …show more content…
The sweat test measures concentration of sweat chloride at two separate times, and if sweat chloride concentration levels are higher than 60 mmol/L, the patient will almost always be diagnosed with cystic fibrosis. Molecular examination of the CFTR gene is commonly done if the sweat chloride test produces boarder line results and also to determine the specific mutations on the CFTR gene (Diagnostic 3). A diagnosis can also be confirmed if the patient’s sweat chloride levels are between 30 mmol/L and 59 mmol/L, and the patient’s CFTR gene has 2 or more disease causing mutations (Levy 1). Typically cystic fibrosis is diagnosed during a child’s first year of life, however, there is a rising number of adolescents and adults getting diagnosed with the disease (Diagnostic 2). One potential reason for the rising number of adults and adolescents is the wide range of phenotypes the disease causes. The phenotypes for cystic fibrosis range from asymptomatic to a critical, life-shortening lung disease (Levy 3). In addition to the large range of phenotypes there is also a broad family of CFTR-associate disorders. The associate disorder arise from patients who meet some requirements for a confirmed diagnosis but not all of them (Levy 2). Confirming a cystic fibrosis diagnosis can be challenging at times, but knowing specific mutations to look for on the CFTR gene help in the diagnosing