Cystic fibrosis

Genetic multisystem disease associated with abnormalities in salt and water transport across epithelial surfaces.

Age of onset of symptoms is often in early infancy; however, in milder cases, symptoms may not develop until later childhood. Implementation of newborn screening in the US and some other countries allows for early detection and treatment.

A sweat test is the most conclusive test for diagnosis and is performed in addition to genetic testing.

Respiratory disease treatment includes mucus thinners, airway clearance, and antibiotics.

Gastrointestinal disease is treated with supplemental pancreatic enzymes, calories, and fat-soluble vitamins to support growth and nutrition.

Although severely life-shortening, in the past 50 years average survival has increased dramatically to almost 40 years of age.

A range of new drugs are either in development or already approved for use by patients. This includes drugs that restore proper function of the defective protein that causes cystic fibrosis, and drugs that have a direct effect on mucociliary clearance.

Cystic fibrosis (CF) is a severely life-shortening genetic disease resulting from abnormalities in the cystic fibrosis transmembrane conductance regulator (CFTR), a chloride channel found in cells lining the lungs, intestines, pancreatic ducts, sweat glands, and reproductive organs. There are over 2000 known disease-causing mutations that interrupt various stages of CFTR synthesis and function.[1]Cystic fibrosis mutation database. Apr 2011 [internet publication]. http://www.genet.sickkids.on.ca/cftr/ConsortiumBackgroundPage.html The most common clinical manifestations are pancreatic dysfunction, resulting in calorie malabsorption; and lung disease, resulting from a cycle of mucus retention, infection, and inflammation.