Cystic Fibrosis | Diagnosis & Treatment

How is cystic fibrosis diagnosed?

All newborns in Massachusetts — and most other states — are screened for cystic fibrosis (CF). If doctors suspect that a child has CF, they typically test a sample of the child’s sweat to determine how much salt (sodium and chloride) is in it. A high level of salt indicates CF. The test takes about 40-45 minutes from start to finish.

Your child’s doctor may also order one or more of the following tests:

  • blood test to test blood cells for mutations in the CFTR gene, assess infection and determine whether other organs may be involved
  • chest x-ray to look for signs of inflammation or scarring of the lungs
  • pulmonary function test to measure how well the lungs are working
  • sputum culture to test material coughed up from the lungs for infection
  • stool evaluation to measure stool fat absorption
  • pancreatic function tests to assess the health of the pancreas

After all necessary tests, clinicians review and discuss what they have learned about your child's condition, then meet with you and your family to discuss the results and outline the best treatment options.

How is CF treated?

At the present time, there is no cure for CF, but with medical and psychosocial support, many children and adolescents with CF can cope well and lead a productive life. The goal of CF treatment is to ease severity of symptoms and slow the progress of the disease.

A child's treatment is likely to include:

  • chest physical therapy to help loosen and clear lung secretions
  • exercise to loosen mucus, stimulate coughing and improve overall physical condition
  • medications such as bronchodilators and anti-inflammatory medications to reduce mucus and help breathing
  • antibiotics to treat infections
  • management of digestive problems, which may involve appropriate diet, pancreatic enzymes to aid digestion, vitamin supplements, treatments for intestinal obstructions and dietary supplements
  • ongoing screening to detect early-stage liver disease and intervene as needed
  • psychosocial support to help deal with issues such as body image, feeling different and managing the condition in a school setting

CF-related diabetes

If your child has cystic fibrosis-related diabetes (CFRD), they may need to see an endocrinologist in addition to their CF-care team. Children with CFRD usually need to be treated with a combination of insulin, diet and exercise.

Insulin helps glucose enter the cells of the body so it can be used to produce energy. Typically, insulin is injected through a short needle into the fatty layer just under the skin of the belly, leg or arm.

Your child should continue to eat a high-calorie diet high in protein in salt, however, they will need to monitor the amount of carbohydrates they eat. Physical activity, such as jogging or playing sports, helps maintain your child’s lung function and helps regulate blood sugar.

Organ transplant for CF

An organ transplant won't "cure" CF. In children with CF, every cell in the body carries the CF gene. However, in severe cases, a transplant may enable a child to live a longer and healthier life. 

Lung transplant — usually a double-lung transplant — may be an option if a child has end-stage lung disease. A lung transplant replaces the diseased lungs with a healthy pair of lungs. A child may need a liver transplant if their liver becomes so scarred, it can no longer function.