Cystic fibrosis (CF) is an inherited disease of your mucus and sweat glands. It affects mostly your lungs, pancreas, liver, intestines, sinuses and sex organs. In CF, an abnormal gene called the cystic fibrosis transmembrane conductance regulator (CFTR) gene causes mucus to become thick and sticky.
The mucus builds up in the lungs and blocks the airways, creating an environment that makes it easy for bacteria to grow. This leads to repeated serious lung infections that can damage your lungs. The mucus can also block tubes, or ducts, in your pancreas so that the digestive enzymes it produces cannot reach the intestines where they are needed to break down food.
In addition to having thick mucus, you may:
- Have extremely salty sweat. When you perspire, your body loses large amounts of salt. This can upset the balance of minerals in your blood, which can cause a heat emergency. Drink plenty of water.
- Frequently cough with phlegm.
- Experience frequent bouts of bronchitis and pneumonia, salty-tasting skin, dehydration, poor growth, and infertility, mostly in men.
How is Cystic Fibrosis Diagnosed?
- The most common diagnostic test for CF is the sweat test, which measures the amount of salt in your sweat.
- A chest X-ray, sinus X-ray, CT-scan, lung function tests, analysis of sputum cultures and/or stool samples, and genetic testing of a blood sample can also help with diagnosis.
- Prenatal genetic testing can help you find out if your baby is likely to have CF. New Mexico hospitals began screening newborns for the disease in 2007.
Testing for Cystic Fibrosis During Pregnancy
If you are pregnant, prenatal genetic tests can find out if your baby has CF:
- In amniocentesis, your doctor inserts a hollow needle through your abdominal wall into your uterus to obtain cells from the amniotic fluid around the baby. The fluid is then tested to see if both of the baby's cystic fibrosis transmembrane conductance regulator (CFTR) genes are normal.
- In a chorionic villus biopsy, your doctor uses ultrasound to guide a thin tube through your vagina and cervix into your uterus and remove a tiny piece of the placenta to biopsy. The cells of the placenta are then tested to see if the baby has CF.
Cystic Fibrosis Carrier Testing
You may want to check whether you are a CF carrier, if:
- You have a family history of CF.
- You are a partner of someone with CF.
- You are a couple planning a pregnancy.
A genetics counselor at your local hospital can take a blood or saliva sample to see if it contains the abnormal CFTR gene that causes CF. It will detect nine out of 10 cases. Check with your insurance plan on coverage for genetic testing.