A child who shows poor growth, has repeated lung or sinus infections, or both may have cystic fibrosis. The standard test for cystic fibrosis is the quantitative sweat chloride test, or "sweat test," which measures the amount of salt in the sweat.
The sweat test is difficult to do in newborns because they do not sweat. For newborns, an immunoreactive trypsinogen test (IRT) may be used instead. This test involves drawing blood and looking for a specific protein called trypsinogen. A positive IRT test may be confirmed at a later date with genetic testing or a sweat test.
Other tools that help with diagnosis include chest X-rays and lung function tests, which may show lung problems common in cystic fibrosis. Tests of stool samples may show digestive problems.
Diagnosing cystic fibrosis in an unborn baby is possible through genetic testing. The National Institutes of Health recommends that genetic testing for cystic fibrosis be offered to all expectant couples or those still planning a pregnancy, especially if they have a family history of the disease.
What Are the Treatments for Cystic Fibrosis?
Treatment for cystic fibrosis focuses on both the lung and digestive parts of the disease.
Treating Lung Problems Doctors will focus on preventing lung infections. Daily chest physiotherapy (CPT), also known as percussion and postural drainage, helps to loosen mucus in the lungs and helps with coughing. During CPT, the person is put into a position that helps drainage, and then all areas of the lungs are "percussed" by clapping on the person's back with a cupped hand. Family members can perform CPT on small children, while older children and young adults can learn to do it themselves. CPT is usually performed twice a day, though it may be done more frequently when the person has an active lung infection. Treatments using vibrating vests are also being widely used and appear to be better in many children, though expensive.
Regular exercise also helps to loosen and move secretions and maintain lung and heart fitness.
Antibiotics are crucial to treating cystic fibrosis lung infections.
Mucus-thinning drugs help get rid of mucus in the lungs.
Anti-inflammatory drugs help lower inflammation in the lungs.
Treating Digestive Problems People with CF must eat a well-balanced, high-calorie, high-protein diet. Their reduced absorption of nutrients often means that as children, they must get up to 150% of the recommended daily allowances to meet their growth needs. Multivitamins and supplements of vitamins A, D, E, and K are also important. To help digestion, people with cystic fibrosis need to take pancreatic enzymes before every meal and snack and extra enzymes to help digest high-fat foods. Those with severe digestive problems may need supplemental feedings with specialized, high-calorie formulas either with a feeding tube or, in rare cases, in the vein.
Gene Therapy Gene therapy offers the best hope for a lifesaving treatment that attacks the cause of cystic fibrosis, rather than just treating the symptoms. Kalydeco, the first drug that treats an underlying cause of cystic fibrosis, may help some people. Four percent of those with the disease -- about 1,200 people in the U.S. -- have the specific gene defect that Kalydeco treats. The drug is approved for people over 6 years old.
Transplants Some cystic fibrosis patients have had lung transplants to replace failing lungs.