Cystic fibrosis is a life threatening, inherited disease of the exocrine glands. The condition primarily affects the digestive and respiratory systems which become clogged with a thick, sticky mucus.
Cystic fibrosis is caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene which results in an excess of salt and water passing into cells, causing a thick, sticky mucus to build up in bodily passageways.
In the airways, this mucus causes a persistent cough, wheezing, breathlessness, and repeated lung infections. In the digestive tract, the tubes that carry digestive enzymes from the pancreas into the small intestine become blocked, preventing the proper absorption of food nutrients. This can lead to poor weight gain, intestinal blockage (particularly in newborns), and foul-smelling, greasy stools.
There is no cure for cystic fibrosis, so treatment aims to ease symptoms and make the condition easier to live with. Bronchodilators may be used to help expand the airways, antibiotics to treat chest infections and physiotherapy can help expel mucus from the lungs.
The condition is most common in white people of northern European descent and is estimated to occurs in 1 in every 2,500 babies born in the UK, where babies are screened at birth for cystic fibrosis as part of the National Health Service newborn screening programme.