Cystic fibrosis symptoms usually appear in the first year of life, but can also occur in adolescence or adulthood. The sweat test is the most common diagnostic test, but blood tests, X-rays, pulmonary function tests, and sputum culture tests may also be used. Treatment is available, but there is no known cure.
Typically, a person born with cystic fibrosis shows symptoms within the first year of life. However, in some cases, symptoms don’t become apparent until adolescence. There have also been some cases where cystic fibrosis was not diagnosed until adulthood. However, when symptoms are present, there are standard tests used to diagnose the disease.
The sweat test is the most commonly used test to diagnose cystic fibrosis. This test is used to look for abnormally high levels of sodium chloride, or salt, present in an individual’s sweat. The sweat test is done by sweating an area of skin by placing a chemical solution called pilocarpine on it and stimulating it with a mild electric current. The sweat is then collected with gauze and analyzed. The sweat test isn’t painful, but it can cause some mild discomfort.
Sweat testing may be less effective for newborns because they tend to sweat less. Instead, the immunoreactive trypsinogen test (IRT), which involves blood testing, is done. Some individuals with cystic fibrosis may have normal levels of salt in their sweat. In such cases, other tests may be used to diagnose cystic fibrosis.
Blood tests are used to detect mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Cheek scraping tests are also sometimes used, which involve the painless removal of cells. Chest X-rays are also used to diagnose cystic fibrosis.
Pulmonary function tests are sometimes used to determine whether or not a person has cystic fibrosis. These tests measure lung function and capacity. Pulmonary function tests typically require the patient to breathe into a specially designed machine.
Sputum culture tests may be included as part of the diagnostic process. In a sputum test, the subject must cough and spit his or her sputum into a cup. The sputum is taken to a laboratory and evaluated for the presence of infection.
Stool evaluations and pancreatic function tests are sometimes included in the diagnosis of cystic fibrosis. Fortunately, cystic fibrosis can be treated. So far, however, there is no known cure.
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