Cystic fibrosis (patient information)
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shaghayegh Habibi, M.D.[2]
Overview
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What are the Symptoms of cystic fibrosis?
- Skin tastes salty
- Baby doesn't pass stool when first born
Pulmonary symptoms:
- Pulmonary infections (cause frequent coughing that brings up thick sputum that is sometimes bloody)
- Nasal polyps (growths in the nose)
Digestive System:
- Diarrhea or bulky, foul-smelling, greasy stools (mucus can block ducts in pancreas and prevents enzymes from reaching the intestines. As a result, intestines can't fully absorb fats and proteins.
- Stomach pain and discomfort (because of too much gas or severe constipation)
- Poor weight gain and growth (because of the lack of enzymes to help absorb fats and proteins)
- Rectal prolapse (frequent coughing or problems passing stools may cause rectal tissue from inside to move out of rectum)
What Causes cystic fibrosis?
- The CFTR gene makes a protein that controls the movement of salt and water in and out of the cells. In people who have cystic fibrosis, the gene makes a protein that doesn't work well. This causes thick, sticky mucus and very salty sweat.
- More than a thousand defects are known that can affect the CFTR gene. The type of defect may affect the severity of cystic fibrosis.
Who is at Highest Risk?
- Every person inherits two CFTR genes, one from each parent. Children who inherit two faulty CFTR genes from both parents will have CF.
Diagnosis
Newborn Screening
- All States screen newborns for CF using a genetic test or a blood test. The genetic test shows whether a newborn has faulty CFTR genes.
- The blood test shows whether a newborn's pancreas is working properly.
Sweat Test
- If a genetic test or blood test suggests CF, a doctor will confirm the diagnosis using a sweat test. This test is the most useful test for diagnosing CF. A sweat test measures the amount of salt in sweat. For this test, the doctor triggers sweating on a small patch of skin on an arm or leg, rubs the skin with a sweat-producing chemical and then uses an electrode to provide a mild electrical current. This may cause a tingling or warm feeling. Sweat is collected on a pad or paper and then analyzed. The sweat test usually is done twice. High salt levels confirm a diagnosis of CF.
Other Tests
- Genetic tests to find out what type of CFTR defect is causing your CF.
- A chest x ray can show whether your lungs are inflamed or scarred, or whether they trap air.
- A sinus x ray may show signs of sinusitis, a complication of CF.
- Lung function tests measure how much air you can breathe in and out, how fast you can breathe air out, and how well your lungs deliver oxygen to your blood.
- A sputum culture which your doctor will take a sample of your sputum (spit) to see whether bacteria are growing in it. If you have bacteria called mucoid Pseudomonas, you may have more advanced CF that needs aggressive treatment.
Prenatal Screening
- If you're pregnant, prenatal genetic tests can show whether your fetus has CF. These tests include amniocentesis and chorionic villus sampling (CVS).
- In amniocentesis, your doctor inserts a hollow needle through your abdominal wall into your uterus and removes a small amount of fluid from the sac around the baby. The fluid is tested to see whether both of the baby's CFTR genes are normal.
- In CVS, your doctor threads a thin tube through the vagina and cervix to the placenta. and removes a tissue sample from the placenta using gentle suction. The sample is tested to see whether the baby has CF.
Cystic Fibrosis Carrier Testing
- People who have one normal CFTR gene and one faulty CFTR gene are CF carriers. CF carriers usually have no symptoms of CF and live normal lives. However, carriers can pass faulty CFTR genes on to their children. If you have a family history of CF or a partner who has CF (or a family history of it) and you're planning a pregnancy, you may want to find out whether you're a CF carrier.
- A genetics counselor can test a blood or saliva sample to find out whether you have a faulty CF gene. This type of testing can detect faulty CF genes in 9 out of 10 cases.
When to Seek Urgent Medical Care?
Treatment Options
Where to find Medical Care for Cystic fibrosis?
Medical care for cystic fibrosis can be found here.