Cystic Fibrosis
Cystic fibrosis is an inherited disease that affects the digestive system and lungs. A defective gene causes the body to produce unusually thick, sticky mucus that obstructs the pancreas and stops natural enzymes from breaking down food. It can also leads to life-threatening lung infections.
Symptoms
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Very salty-tasting skin;
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Persistent coughing, at times with phlegm;
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Frequent lung infections;
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Wheezing or shortness of breath;
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Poor growth/weight gain in spite of a good appetite; and
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Frequent greasy, bulky stools or difficulty in bowel movements.
Diagnosis
Dr. Jones may order one of the following tests:
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Sweat Test: This simple test measures the concentration of salt in a person’s sweat. The test is painless and is the best way to diagnose cystic fibrosis.
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Genetic Carrier Testing: This blood test detects carriers who could pass cystic fibrosis to their children. A child must inherit one copy of the defective gene from each parent to have cystic fibrosis.
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Newborn Screening: Newborns can benefit from early diagnosis and treatment. While newborn screening is not a definitive diagnostic test, it may lead to tests that can confirm a diagnosis.