Thicker secretions in a person with CF, germs will actually be trapped in the lungs, encouraging infection. In the pancreas, the secretions will block the stream of pancreatic fluids, which eventually prevents fat absorption and fat-soluble vitamin absorption in the stomach.
The physical appearance of these symptoms, or phenotypes, vary from person to person concerning CF. Most will develop symptoms before the age of three, including: swollen "gassy" bellies, difficulty digesting and absorbing fats, diabetes, gall bladder difficulties, greasy, foul-smelling stool, rectal prolapse, repeated respiratory infections, vitamin deficiencies, delayed sexual development, poor growth and a salty "frost" on the skin because the sweat glands do not function properly. (JHU) Lung infections are the primary cause of death in a majority of CF patients.
Unfortunately, there is no cure for CF at this time. Treatments have gotten progressively better over the past twenty years, including specialized diets, vitamin treatments, nebulizers, mucus-thinning medications and antibiotic therapy to minimize infections. (NIH) Although still lethal, patients with CF can now live a longer, far more comfortable life. .
There are a handful ways to test for CF. The most prevalent is the sweat test, which measures the amount of salt in the sweat. Higher than average amounts propose the person tested is positive for CF (NIH). In newborns, an IRT test is sometimes used because infants do not produce much sweat. The IRT tests for the presence of a specific protein named trypsinogen. Usually a positive IRT test will be further clarified with a sweat test in the event of a positive outcome. Other tests such as chest x-rays, and stool and sputum cultures could also be used to ascertain if CF is present. Prenatal testing is also available, if both parents have the CF gene mutation. Regrettably at this time, this procedure is costly, somewhat dangerous, and cannot detect all 900+ possible mutations, so is only 80-85% accurate.
