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Cystic Fibrosis

​Cystic Fibrosis (CF)

updated: July 6, 2022


Cystic fibrosis (abbreviated CF) is a genetic disorder that causes mucus to build up in certain organs of the body, particularly the lungs and pancreas, resulting in breathing problems, respiratory infections and faulty digestion. Caused by a mutation in a single gene (called CFTR), the disorder is inherited as an autosomal recessive trait, meaning that an affected individual inherits two mutated copies of the gene, one from each parent. In the past, CF was almost always fatal in childhood. Today, however, with improvements in screening and treatments, individuals with CF may live into their 30s or 40s, or even longer.



Cystic fibrosis of the pancreas was the original description of this disease because it affects the pancreas and the lungs, although it's the lungs that are the cause of the most major concerns these days. The pancreas problems, which were the cause of the original label, are actually well treated by enzyme replacement. And we've done much better in the treatment of the disease, so the average survival is now in the mid-30s. But after the gene was discovered in 1989, a gene called CFTR, many people had hopes that that would lead immediately to a cure. That was probably unrealistic. But happily, now some two decades later, there is real promise of drug treatment based upon an understanding of how the gene works, and maybe in the future this will be a disease for the history books.