CF is a common genetic disorder that causes chronic obstructive and inflammatory pulmonary disease, pancreatic insufficiency, and elevated sweat chloride levels. CF is caused by mutations in the CFTR gene. In the most frequently occurring mutation, a lack of phenylalanine results in protein misfolding and a block in processing.
The United States has universal newborn screening for CF using enzymatic and molecular testing methods. A diagnosis of CF is confirmed by measuring increased chloride in sweat, a test that requires comprehensive quality assurance and conformity to guidelines to ensure accurate results.
Currently, there is no cure for CF. Treatment consists of a variety of aerosolized medications to improve airway clearance and manage bacterial infections and oral pancreatic enzymes to aid in digestion. Recently, mutation-specific drugs have been developed to correct the CFTR protein and increase its function as a chloride channel.
