Rare Disease Day 2022: Cystic Fibrosis
More than 70,000 children and adults are affected by Cystic Fibrosis (CF) worldwide.* Cystic Fibrosis is a progressive, inherited disease which causes the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Protein to become dysfunctional. This results in the protein being unable to move chloride to the cell surface with the consequence that the cell is then unable to attract water to the surface of the cell. The impact of this being that the mucus in various organs becomes sticky.
When this mucus is within the lungs, it clogs the airways and traps bacteria which can then cause frequent infections. The pancreas is also affected by the build up of mucus where the build up prevents the release of digestive enzymes, and consequently the body is unable to adequately absorb key nutrients from food resulting in malnutrition and poor growth. Other lesser-known implications of the condition include the blockage of the bile duct in the liver, and infertility in men with CF.
Historically the prognosis for suffers of this rare disease was poor, before the CTFR gene was identified the life expectancy was around 14 years. Today with better treatments available it is 35 years.**
Learn more at Cystic Fibrosis Trust
*https://www.cff.org/intro-cf/about-cystic-fibrosis Accessed: January 2022
**https://www.disabled-world.com/health/respiratory/cystic-fibrosis/life-expectancy.php Accessed January 25, 2022
We offer information on other rare diseases, like our post on Niemann-Pick Disease.