It is an autosomal recessive genetic disorder. Autosomal means the abnormal gene is not on a sex chromosome and recessive means the effect of the gene would only be seen when a baby inherits an abnormal gene from both parents and does not inherit a normal dominant gene. In individuals affected with CF, the glands that produce mucous, sweat and intestinal secretions do not function properly resulting in abnormally thick secretions. These thick secretions, present in the lungs and intestines, cause problems with breathing and digestion. Common respiratory signs of CF may include coughing, breathing problems, respiratory infections, and lung damage.
Digestive signs are poor weight gain and bulky, foul-smelling stools.
In additions, the skin has a salty taste. While treatment has improved, death due to CF may occur in early childhood or as a young adult. A DNA blood test can identify carriers of the most common CF gene mutations. There are many CF gene mutations, most of them rare, which cannot be detected in routine testing. Because there are many gene mutations that cause CF, testing is most reliable if the specific mutations are known for the affected relative.