Cystic Fibrosis | Pulmonology & Critical Care | Loyola Medicine

Cystic Fibrosis

Overview and Facts about Cystic Fibrosis

Cystic fibrosis is a genetic disorder that primarily affects cells that produce bodily fluids. Many parts of the body can be affected; however, because cystic fibrosis often affects the mucus that lines the lungs, the lungs are most often affected.

The mucus your body produces helps lubricate your lungs and other organs. In healthy individuals, these secretions are usually thin, but cystic fibrosis causes them to become thick and sticky. Thickened secretions can clog passageways in the lungs, digestive system, and other parts of your body.

In the past, people with cystic fibrosis often died during childhood, but today people with cystic fibrosis often live into their 30s and 40s. People with cystic fibrosis need daily care to manage their symptoms.

Signs and Symptoms of Cystic Fibrosis

Symptoms of cystic fibrosis often appear shortly after birth. In the United States, newborns are screened for this condition, but parents should still remain vigilant for symptoms of cystic fibrosis.

In some cases, symptoms may not appear until the child is older. In rare cases, the child may not show symptoms until they reach adolescence.

Symptoms of cystic fibrosis can include:

  • Persistent coughing, breathlessness, and wheezing
  • Frequent respiratory infections
  • Difficulty exercising and poor weight gain
  • Constipation and intestinal blockages

Children with cystic fibrosis may struggle to have a bowel movement. If your child has trouble passing stool, or if another person in your family has recently been diagnosed with cystic fibrosis, contact your pediatrician.

Causes and Risk Factors of Cystic Fibrosis

Cystic fibrosis is caused by a genetic mutation that is passed from parent to child. If a child has only one copy of the mutated gene, they won't develop cystic fibrosis; a copy of the mutated gene from both parents is needed. However, children with one copy of the mutated gene can still be a carrier for the disease, so they do run the risk of passing cystic fibrosis to their own children.

Tests and Diagnosis of Cystic Fibrosis

Because cystic fibrosis can affect many different parts of the body, symptoms can be diverse. Your child's doctor may need to order several tests to find the cause of your child's symptoms.

Genetic tests can help determine whether a child has cystic fibrosis. These tests are complex and are not performed as a matter of routine. Instead, young children often undergo blood or skin tests. Doctors can then determine whether further testing is needed.

Treatment and Care for Cystic Fibrosis

There is no cure for cystic fibrosis, but treatment can help extend your child's life and relieve painful symptoms. Your pediatrician may refer you to a specialist for further care. A doctor who specializes in pulmonary and critical care can help you review your treatment options.

Medications can help clear your child's airways and prevent infections. Chest therapy and pulmonary rehabilitation can also help improve your child's lung function. During these treatments, a medical provider will explain how you can better help your child at home.