What is Cystic Fibrosis

What Causes Cystic Fibrosis?

People are born with Cystic Fibrosis; it is a genetic disorder. CF is caused by a mutation in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR) which helps create sweat, digestive juices, and mucus. Although most people without CF have two working copies of the CFTR gene, only one gene is needed to prevent cystic fibrosis. CF develops when neither gene works normally. The CFTR gene is therefore a recessive gene and, because both men and women can develop cystic fibrosis, CF is known as an autosomal recessive disease. The name cystic fibrosis comes from the characteristic scarring (fibrosis) and cyst formation within the pancreas, first recognized in the 1930s. When two people who carry a defective version of the gene responsible for CF have a child, there is: a 25% chance that the child will be born with cystic fibrosis; a 50% chance that the child will not have CF, but will be a carrier; a 25% chance that the child will not have CF, and will not be a carrier. CF is one of the most common inherited disorders of Caucasians (whites). In South Africa 1 in 27 individuals in the White population, 1 in 50 in the Coloured population and at least 1 in 90 in the Black population carriers a CF mutation. The total is increasing as more children are correctly diagnosed, treated earlier and living much longer.