Epidemiology

Cystic fibrosis is the most common genetically inherited lethal disease in the white population. It is caused by the autosomal recessive mutation of the gene on chromosome 7 that codes for the cystic fibrosis transmembrane conductance regulator (CFTR), a membrane glycoprotein found in secretory and absorptive epithelial cells. Approximately 1 in 3,500 children in the United States is born with cystic fibrosis (Cystic Fibrosis Foundation 2008), and the disease affects 1 in 2,500 live births worldwide (Lewis 2000). Approximately 30,000 people in the United States and about 70,000 people worldwide have cystic fibrosis (Cystic Fibrosis Foundation 2008). The incidence varies by ethnic group: 1 in 3,200 Caucasians, 1 in 9,500 Hispanics, 1 in 15,000 African Americans, and 1 in 31,000 Asian Americans (Flotte 2009).

Improvements in treatments are advancing the lives of patients with cystic fibrosis. The median age of survival of a person with cystic fibrosis is now 36.9 years, and more than 40% of all people with cystic fibrosis in the United States are now age 18 years or older (Cystic Fibrosis Foundation 2008). Survival is influenced by genetic factors (the specific cystic fibrosis mutation), environmental factors, and treatment patterns (Strausbaugh and Davis 2007). Despite advances, cystic fibrosis continues to be a chronic and debilitating illness that imposes extensive treatment demands on patients and their families.

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