What is CF?
Cystic Fibrosis (CF) is a recessive genetic condition. The gene involved in CF gives instructions for the cells to make a protein that controls the movement of salt in and out of cells.
This salt transport gene lies on chromosome 7. Everyone has two copies of chromosome 7 and therefore everyone has two copies of the salt transport gene. Scientists have called it the CFTR (Cystic Fibrosis Transmembrane Regulator) gene.
Here are some facts about CF:
- CF is the most common life threatening, recessive genetic condition affecting Australian children.
- Symptoms can include poor weight gain, troublesome coughs, repeated chest infections, salty sweat and abnormal stools.
- Cystic Fibrosis is a genetic disease that affects a number of organs in the body (especially the lungs and pancreas) by clogging them with thick, sticky mucus.
- Repeated infections and blockages can cause irreversible lung damage and death. Mucus can also cause problems in the pancreas preventing the release of enzymes needed for the digestion of food. This means that people with CF can have problems with nutrition.
- CF is an inherited condition. For a child to be born with CF both parents must be genetic carriers for CF. They do not have CF themselves. See Causes.
- In Australia, all babies are screened at birth for CF.
- At present there is no cure for CF, but the faulty gene has been identified and doctors and scientists are working to find ways of repairing or replacing it. One of the main objectives of the CFA Research Trust is to fund this work.
- With today’s improved treatment most people with CF are able to lead reasonably normal and productive lives. A great amount of time is being directed towards finding new and improved ways of treating CF and of finally finding a cure.
