Cystic Fibrosis/Bronchiectasis

To diagnose cystic fibrosis, doctors typically do a physical exam, review your symptoms and conduct several tests.

Newborn screening and diagnosis

Every state in the U.S. now routinely screens newborns for cystic fibrosis. Early diagnosis means that treatment can begin immediately.

In one screening test, a blood sample is checked for higher than normal levels of a chemical called immunoreactive trypsinogen (IRT), which is released by the pancreas. A newborn's IRT levels may be high because of premature birth or a stressful delivery. For that reason, other tests may be needed to confirm a diagnosis of cystic fibrosis.

To evaluate if an infant has cystic fibrosis, doctors may also conduct a sweat test once the infant is at least 2 weeks old. A sweat-producing chemical is applied to a small area of skin. Then the sweat is collected to test it and see if it's saltier than normal. Testing done at a care center accredited by the Cystic Fibrosis Foundation helps ensure reliable results.

Doctors may also recommend genetic tests for specific defects on the gene responsible for cystic fibrosis. Genetic tests may be used in addition to checking the IRT levels to confirm the diagnosis.

Testing of older children and adults

Cystic fibrosis tests may be recommended for older children and adults who weren't screened at birth. Your doctor may suggest genetic and sweat tests for CF if you have recurring bouts of an inflamed pancreas, nasal polyps, chronic sinus or lung infections, bronchiectasis, or male infertility.

There is no cure for cystic fibrosis, but treatment can ease symptoms, reduce complications and improve quality of life. Close monitoring and early, aggressive intervention is recommended to slow the progression of CF, which can lead to a longer life.

Managing cystic fibrosis is complex, so consider getting treatment at a center with a multispecialty team of doctors and medical professionals trained in CF to evaluate and treat your condition.

The goals of treatment include:

Preventing and controlling infections that occur in the lungs

Removing and loosening mucus from the lungs

Treating and preventing intestinal blockage

Providing adequate nutrition

Medications

Options include:

Medications that target gene mutations, including a new medication that combines three drugs to treat the most common genetic mutation causing CF and is considered a major achievement in treatment

Antibiotics to treat and prevent lung infections

Anti-inflammatory medications to lessen swelling in the airways in your lungs

Mucus-thinning drugs, such as hypertonic saline, to help you cough up the mucus, which can improve lung function

Inhaled medications called bronchodilators that can help keep your airways open by relaxing the muscles around your bronchial tubes

Oral pancreatic enzymes to help your digestive tract absorb nutrients

Stool softeners to prevent constipation or bowel obstruction

Acid-reducing medications to help pancreatic enzymes work better

Specific drugs for diabetes or liver disease, when appropriate