Cystic Fibrosis

Cystic fibrosis (also known as CF or mucoviscidosis) is a recessive genetic disease affecting most critically the lungs, and also the pancreas, liver, and intestine. It is characterized by abnormal transport of chloride and sodium across epithelium, leading to thick, viscous secretions.

The name cystic fibrosis refers to the characteristic scarring (fibrosis) and cyst formation within the pancreas, first recognized in the 1930s. Difficulty breathing is the most serious symptom and results from frequent lung infections that are treated with, though not cured by, antibiotics and other medications. Other symptoms, including sinus infections, poor growth, diarrhea, and infertility affect other parts of the body.

CF is caused by a mutation in the gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR). This gene is required to regulate the components of sweat, digestive juices, and mucus. Although most people without CF have two working copies of the CFTR gene, only one is needed to prevent cystic fibrosis. CF develops when neither gene works normally and therefore has autosomal recessive inheritance.

CF is most common among Caucasians; one in 25 people of European descent carries one allele for CF.

The World Health Organization states that "In the European Union 1 in 2000-3000 newborns is found to be affected by CF".

Individuals with cystic fibrosis can be diagnosed before birth by genetic testing, or by a sweat test in early childhood. Ultimately, lung transplantation is often necessary as CF worsens.

This text uses material from Wikipedia licensed under CC BY-SA

Latest Spotlight News

Sexual fantasies: Are you normal?

Hoping for sex with two women is common but fantasizing about golden showers is not. That's just one of the findings from a research project that scientifically defines sexual deviation for the first time ever. It was undertaken ...

New step towards eradication of H5N1 bird flu

A University of Adelaide-led project has developed a new test that can distinguish between birds that have been vaccinated against the H5N1 strain of avian influenza virus or "bird flu" with those that have ...

Link seen between seizures and migraines in the brain

Seizures and migraines have always been considered separate physiological events in the brain, but now a team of engineers and neuroscientists looking at the brain from a physics viewpoint discovered a link ...