Pulmonary, Critical Care & Sleep Medicine

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Cystic Fibrosis

Cystic Fibrosis is an inherited disease that affects the lungs and digestive system of about 30,000 children and adults in the United States (70,000 worldwide). A defective gene and its protein product cause the body to produce unusually thick, sticky mucus that: clogs the lungs and leads to life-threatening lung infections; and obstructs the pancreas and stops natural enzymes from helping the body to break down and absorb food. People with CF tend to have a lot of sinus problems.

Symptoms of Cystic Fibrosis

People with CF can have a variety of symptoms,
including;very salty-tasting skin;
persistent coughing, at times with phlegm;
frequent lung infections
wheezing shortness of breath;
poor growth/weight gain in spite of a good appetite; and
frequent greasy, bulky stools or difficulty in bowel movements,
sinus issues.

How is CF Diagnosed

Most people are diagnosed with CF at birth or before age two. A doctor who sees signs and symptoms will order either a sweat test or a genetic test to confirm the diagnosis.

A sweat test is the most common test used to diagnose cystic fibrosis. A small electrode is placed on the skin (usually on the arm) to stimulate the sweat glands. Sweat is then collected and the amount of chloride, a component of salt in the sweat, is measured.
In a genetic test, a blood sample or cells from the inside of the cheek is taken and sent to a laboratory to see if any of the various mutations of the CF gene are found. A genetic test is often used if the results from a sweat test are unclear.

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Page Updated 04/17/2014