Cystic Fibrosis

Cystic fibrosis (CF) in children is a lifelong condition that requires specialized care to manage its symptoms. The specialist physicians with Norton Children’s Pulmonology, affiliated with the UofL School of Medicine, offer high-quality care for children and young adults with CF.

Norton Children’s Cystic Fibrosis Program

Norton Children’s Cystic Fibrosis Care Center is accredited by the Cystic Fibrosis Foundation, which recognizes “the best care, treatments and support for those with CF.”  Norton Children’s has the only accredited pediatric CF program in Louisville or Southern Indiana. Quality care means we can help our young patients with CF achieve better-than-average lung function, according to a national audit.

Our interdisciplinary team approach to managing this complex disease means your child will benefit from the expertise of specialist 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.

The multidisciplinary team also provides guidance for children and teens as they transition into adulthood.

What Is Cystic Fibrosis?

CF is a progressive genetic disorder that affects the lungs, pancreas and other organs. In children with CF, the amount of water and salt in many areas of the body is out of balance. The result is the cellular surface is unable to absorb water, causing thick and sticky mucus that clogs tubes, ducts and passageways in many organs.

What Causes Cystic Fibrosis?

To have CF, a child must inherit two copies of the mutated CFTR gene — one copy from each parent. Those who inherit the gene from only one parent are not affected and do not show any symptoms of CF.

In a healthy person, CFTR protein helps the body maintain the proper balance of salt and water. 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 be absorbed into the cell, causing the thick and sticky mucus.

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. Mucus can build up in the liver and block the bile duct, causing liver disease.

Testing for Cystic Fibrosis

Testing for and diagnosing CF is a multistep process. A child may be diagnosed with CF or a related disorder based on the outcomes of various screenings for the condition. Complete testing may include a genetic or carrier test, prenatal testing, newborn screening, sweat chloride test and an evaluation by a specialist.

Adults planning to have children 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 CF.

Cystic Fibrosis Treatment

Airway clearing techniques help decrease lung infections and improve lung function.

Clinical trials are providing new hope for patients and their families. The Norton Children’s Cystic Fibrosis Care Center offers extensive clinical trial opportunities and is part of the Cystic Fibrosis Therapeutics Development Network.

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