Cystic Fibrosis

Cystic fibrosis (CF) affects about 30,000 children and adults in the United States, with approximately 1,000 cases diagnosed each year, according to the Cystic Fibrosis Foundation Patient Registry. The pediatric pulmonologists with Norton Children’s Pulmonology, affiliated with the UofL School of Medicine, have the training and expertise to care for children with cystic fibrosis.

What Is Cystic Fibrosis?

Cystic fibrosis (CF) is a progressive genetic disorder that affects the lungs, pancreas and other organs. This lifelong condition is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. To have CF, a person must inherit two copies of the mutated CFTR gene, getting one copy from each parent. Carriers — people who have the gene from only one parent — are not affected and do not experience CF symptoms.

In a healthy person, CFTR protein helps the body maintain the proper balance of salt and water on many surfaces in the body. CFTR gene mutations, however, cause the body to make CFTR protein incorrectly, or not at all. When the CFTR protein doesn’t work as it should, chloride (a component of salt) becomes trapped in cells and doesn’t move through cells as it should. That makes water unable to hydrate the cellular surface, causing a thick and sticky mucus. This mucus clogs up tubes, ducts and passageways in different organs. In the lungs, the mucus clogs airways, trapping germs that can lead to infections, inflammation and other complications. Mucus buildup in the pancreas blocks digestive juices, causing malnutrition and poor growth because the body can’t absorb key nutrients from food. Mucus can build up in the liver and block the bile duct, causing liver disease.

Cystic Fibrosis Testing and Diagnosis

Testing and diagnosing CF is a multistep process. Complete testing may include a genetic or carrier test, prenatal testing, newborn screening, sweat chloride test and an evaluation by a specialist.

Prospective parents can be tested to determine if they are carriers for the condition. Prenatal testing can determine if a baby has CF. The majority of children with CF, however, are diagnosed as newborns or before age 2.

All 50 states screen infants for CF in the first few days after birth. If a newborn screening is positive or a child or adult has symptoms, a sweat chloride test is considered the gold standard for diagnosing the condition.

A child may be diagnosed with CF or a related disorder based on the outcomes of various screenings for the condition.

Norton Children’s Cystic Fibrosis Center

Our Cystic Fibrosis Center is one of only 120 centers in the United States accredited by the Cystic Fibrosis Foundation. We are the only facility in the region accredited by the CF Foundation for pediatric CF care. Our Cystic Fibrosis Center also is one of five centers in the United States designated as a benchmark facility for the treatment of CF. According to a national audit, patients treated at Norton Children’s Hospital have better than average lung function.

The Cystic Fibrosis Center at Norton Children’s Hospital offers an interdisciplinary team approach to managing this complex disease and provides care for children and teens as they transition into adulthood. Each child’s care team includes physicians, nurses, respiratory therapists, nutritionists, social workers and child life specialists. This team works together to provide a customized, family-centered care plan. Because CF affects the whole family, we also help coordinate home health services and other community resources.

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Norton Children’s Pulmonology

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