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

  • Very salty-tasting skin;
  • Persistent coughing, at times with phlegm;
  • Frequent lung infections;
  • Wheezing or shortness of breath;
  • Poor growth/weight gain in spite of a good appetite; and
  • Frequent greasy, bulky stools or difficulty in bowel movements.

Diagnosis
Dr. Jones may order one of the following tests:

  • 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.
  • 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.
  • 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.