Overview
Cystic Fibrosis is a chronic, progressive disease that affects approximately 70,000 people in the United States and over 80,000 worldwide. It is caused by a mutation in the CFTR (cystic fibrosis transmembrane conductance regulator) gene, which codes for a protein that regulates the movement of salt and water in and out of cells. This mutation leads to the production of thick, sticky mucus that clogs the airways, digestive tract, and other organs, causing a range of symptoms and complications.CF is a complex disease that affects not only the lungs but also the pancreas, liver, kidneys, and reproductive system. In the lungs, the thick mucus traps bacteria, leading to recurrent lung infections and inflammation. In the pancreas, the mucus blocks the release of digestive enzymes, leading to malnutrition and weight loss. CF can also affect the reproductive system, causing infertility in both men and women.
History/Background
Cystic Fibrosis was first described in 1938 by Dr. William E. Knowles and Dr. Asa G. Schwartz, who identified the disease as a distinct clinical entity. However, it was not until the 1950s and 1960s that the genetic basis of CF was discovered. In 1989, the CFTR gene was cloned, and since then, numerous studies have shed light on the molecular mechanisms underlying the disease.Key Information
Key facts about Cystic Fibrosis include:* CF is an autosomal recessive disorder, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the disease.
* The disease affects approximately 1 in 2,500 Caucasian births and 1 in 17,000 African American births.
* CF is characterized by a range of symptoms, including persistent coughing, wheezing, and shortness of breath, as well as digestive problems, such as abdominal pain and diarrhea.
* The median life expectancy for people with CF has increased significantly over the past few decades, from 5-10 years in the 1960s to over 50 years today.
* CF is a costly disease, with estimated annual costs ranging from $50,000 to $100,000 per person.
