Cystic fibrosis (CF) in children

What is cystic fibrosis?

Cystic fibrosis is an inherited genetic condition. CF causes your child’s body to produce thick mucus and digestive fluids, which can build up. This build up can lead to blockages, damage or infections.

A healthy body needs mucus and digestive fluids to keep certain parts of the body from drying out. When the body’s mucus and other fluids can flow correctly, they help defend the body against things like viruses and bacteria.

So, thick mucus from CF won’t flow correctly, which can cause serious lung infections and breathing problems. CF’s effect on your child’s digestive fluids can also cause pancreatic insufficiency and liver disease, which limit how well your child can absorb nutrients.

The severity of CF differs from child to child, sometimes even when those children are in the same family.

What are the signs and symptoms of cystic fibrosis?

Cystic fibrosis symptoms in infants (birth to 1-year) include:

• Trouble gaining weight and delayed overall growth
• No bowel movement in first 24-48 hours following birth due to thick, dark putty-like stools that become too sticky to pass
• Salty skin

Cystic fibrosis symptoms in children older than one year include:

• Respiratory problems, such as allergies that last all year, bronchitis, lung infections, pneumonia, recurring colds, shortness of breath and sinus infections.
• Digestive system issues, such as pancreatitis, constipation, diarrhea, gallstones, liver disease, gas and bloating, nausea and loss of appetite, pale or clay-colored stools that are foul-smelling, have mucus and float, swollen belly from severe constipation and rectal prolapse (when the rectum sticks out through the anus) from frequent coughing or problems passing stools.

In children over one year who develop later stage CF, symptoms typically include:

• Low bone density
• Male infertility
• Clubbed toes and fingers (widening and rounding of the tips of fingers and toes)
• Diabetes

How is cystic fibrosis diagnosed?

If children aren’t diagnosed with CF at birth, most are diagnosed by the age of 2. In Texas, all babies are screened at birth for CF. Early diagnosis is key for early treatment, which helps ensure the highest possible outcome.

The newborn screening tests for the presence of a protein called trypsinogen can detect cystic fibrosis. Nurses take a blood sample from the newborn’s heel and send it to a lab for testing. If a newborn has trypsinogen on this first screen, doctors do a second screen. If your child tests positive for the protein a second time, experts will analyze your child’s DNA (through a blood sample) for the most common CF genetic mutations.

If any of these screens are concerning, your pediatrician and our team will be alerted. We will coordinate an appointment with you at our Children’s Health Claude Prestidge Cystic Fibrosis Center within 24-72 hours. At that appointment, we will discuss the newborn testing and diagnosis of CF with you. A combination of the two protein screens, DNA test and a sweat test confirms a CF diagnosis.

Within your first few visits to our center, we will perform the sweat test, and you will also meet with the genetic counselor on our team to further discuss your child’s DNA testing. However, your infant must meet a weight requirement for a sweat test.

If your infant weighs enough, we will perform the sweat test, where we collect sweat from your child’s skin and check its salt content. High salt levels support the diagnosis of CF for your child. However, if your infant does not weigh enough for us to perform the test, we will order further DNA testing first and conduct sweat testing later.

If you are expecting a baby and CF runs in your family, you can also speak to our CF team at the clinic before your baby is born. Genetic testing during pregnancy allows us to test babies for CF before they are born.

What causes cystic fibrosis?

Cystic fibrosis is a congenital disease, which means a child is born with it. Everyone has the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CF happens when this gene is mutated or altered a certain way. Many people are carriers for this altered CFTR gene, but children with CF have inherited two altered genes, one from each parent.

While the parents of a child with CF may each carry one copy of the altered CFTR gene, they likely do not have the disease themselves.

How is cystic fibrosis treated?

• Therapies to clear your child’s airways, loosening the mucus in the lungs
• Inhaled medications to relax airways
• Enzyme therapy (medication that helps with digestion)
• Antibiotics and anti-inflammatory drugs (in some, but not all cases)

If your child is diagnosed with CF as a newborn, we'll closely monitor your child with monthly checkups for the first six months of their life. We will then continue with routine checkups every two months until they are 1 year old.

After your child turns 1, they will have quarterly visits each year. If your child experiences complications outside of their routine check-ups, our clinic will see your child for a sick visit. At these visits, we will determine if treatment can take place at home, or if your child needs to be admitted to the hospital. No matter what happens, our CF team will be there to provide the care your child needs and answer all your questions.

Our team’s approach to treating cystic fibrosis involves expertise from various specialists, which gives your child access to the best care possible. At our Claude Prestidge Cystic Fibrosis Center, all of the specialties your child needs are located in one place for your convenience and highly-coordinated care.

We are also national leaders in CF research and care quality improvement. Our various accreditations with national organizations help bring care approaches powered by leading-edge research directly to your child’s visit. Being involved with research has helped us continuously improve patient outcomes — the rates of cystic fibrosis flare-ups among our patient population have fallen while our patients’ pulmonary function has risen.

As part of developing effective treatments that work specifically for your child, we will use our state-of-the-art pulmonary function lab. This lab offers highly specialized tests, such as lung clearance index testing for young children, that many providers do not have the tools to do. And since children with CF are at a high-risk of infection, we have developed various leading methods for conducting the most sanitary lung function testing possible.