Cystic Fibrosis

Cystic Fibrosis (CF) is a genetic disease. While it affects the whole body, it has the worst impact on the lungs and digestive system. The defective gene produces an abnormal CFTR (cystic fibrosis transmembrane conductance regulator protein). In the airway this results in a lack of mucus hydration and therefore an unusually thick, sticky mucus that clogs the airways. Because of associated inflammation, the process enters a vicious circle with more mucus production that is not hydrated and therefore makes the clogging worse. This can result in life-threatening lung infections. Mucus also obstructs the pancreatic duct and stops natural enzymes from helping the body break down and absorb food.

Cystic Fibrosis is an inherited, chronic and potentially life-shortening disease. If you’ve been diagnosed with CF, you have at least two mutated genes, inheriting one from each parent. If one parent has CF or carries a CF gene, and the other parent does not, then their child has a 50 percent chance of being a carrier of the CF gene, but may not exhibit symptoms. In some cases, additional tests such as the Sweat Test, which measures the amount of chloride in the patient’s sweat, may be useful. Testing should be done through an accredited CF care center.

Occasionally, a patient with one CF gene mutation but a mildly elevated salt secretion through the skin by sweat testing may not have completely normal lung function, may exhibit other symptoms, or might get sick later in life. This is often referred to as CRMS, or CFTR-Related Metabolic Syndrome. In the case of CRMS, you should be followed by a physician or institution with expertise in CF to see if symptoms develop. If you have been diagnosed with CF, your care should be coordinated through an accredited CF center.

CF is a significant comorbidity for NTM lung disease. Although all newborns in the United States are now screened and it is usually diagnosed in early childhood, some NTM patients now are being diagnosed with a form of CF as adults.

For more information on Cystic Fibrosis as well as available treatments, guidelines, and locations of accredited treatment centers, visit cff.org or click here for our Physician Referral List.

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