Cystic fibrosis (CF) is a genetic disorder that primarily affects the lungs and digestive system, causing thick, sticky mucus to build up in the body’s organs. This can lead to serious respiratory and digestive issues. Early diagnosis and ongoing management are crucial to improving the quality of life for children with CF. At Intown Pediatric & Adolescent Medicine, we provide expert care for children with cystic fibrosis, helping them manage their symptoms and offering support to families. Serving families in Atlanta from our locations in Glenwood Park, Brookhaven, and Decatur, we are committed to comprehensive and personalized CF care.
What Is Cystic Fibrosis?
Cystic fibrosis is a genetic condition caused by mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene. This gene controls the movement of salt and water in and out of cells, and when it doesn’t work correctly, it leads to the production of thick, sticky mucus in the lungs, pancreas, and other organs. Over time, this buildup can cause significant damage to the lungs and digestive system, leading to chronic respiratory infections and difficulty absorbing nutrients.
Cystic fibrosis is an inherited condition, meaning a child must inherit two copies of the faulty gene (one from each parent) to develop the disease.
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CF Disease Symptoms in Newborns
Cystic fibrosis can cause symptoms very early in life, sometimes even before a baby leaves the hospital. The symptoms of CF in newborns and infants can vary, but common signs include:
Salty-Tasting Skin
One of the earliest signs of CF is unusually salty-tasting skin, caused by the excess salt in sweat.
Poor Weight Gain
Despite a good appetite, babies with CF may struggle to gain weight or grow normally due to issues with nutrient absorption.
Frequent Respiratory Infections
Persistent coughs, wheezing, and recurrent lung infections, such as pneumonia or bronchitis, can be early signs of CF in newborns.
Failure to Thrive
Babies with CF may fail to gain weight and grow at a healthy rate, even with proper feeding, due to difficulty absorbing fats and proteins.
Greasy or Bulky Stools
Digestive issues caused by CF can result in greasy, bulky stools that are difficult to pass, leading to constipation or intestinal blockages.
Meconium Ileus
Some babies with CF may experience meconium ileus, a condition in which the baby’s first stool (meconium) becomes thick and sticky, blocking the intestines and requiring medical intervention.
If these symptoms are present in a newborn, early diagnosis and treatment are crucial to managing the condition and improving long-term outcomes.
Cystic Fibrosis Diagnosis
Diagnosing cystic fibrosis typically begins with newborn screening, which is conducted shortly after birth. Early diagnosis allows for prompt treatment and better management of symptoms. The diagnostic process includes the following steps:
Newborn Screening
In many states, including Georgia, newborns are routinely screened for CF as part of their standard health check-up. This screening involves a blood test to check for elevated levels of a protein called immunoreactive trypsinogen (IRT), which can be higher in infants with CF.
Sweat Test
If the newborn screening suggests the possibility of CF, a sweat test is often conducted to confirm the diagnosis. In this test, a small amount of sweat is collected from the baby’s skin and analyzed for its salt content. Elevated salt levels in the sweat are a hallmark of CF.
Genetic Testing
Genetic testing may be used to confirm a diagnosis by identifying specific mutations in the CFTR gene. This test can also determine whether a child carries one or two copies of the defective gene, which helps in planning treatment and understanding the risk of passing the condition on to future children.
Pulmonary Function Tests
As children with CF grow older, pulmonary function tests may be used to assess how well their lungs are working and how much air they can move in and out of their lungs. This helps track the progression of the disease and guide treatment.
Treatment for Cystic Fibrosis
While there is no cure for cystic fibrosis, treatment focuses on managing symptoms, preventing infections, and improving the child’s quality of life. Treatment plans for CF are tailored to each child’s specific needs and typically involve a combination of therapies aimed at addressing respiratory, digestive, and nutritional issues. Common treatments include:
Airway Clearance Techniques
To help loosen and remove the thick mucus from the lungs, various airway clearance techniques, such as chest physiotherapy or the use of vibrating vests, may be recommended. These techniques help prevent lung infections and improve breathing.
Inhaled Medications
Medications delivered through a nebulizer or inhaler, such as bronchodilators and mucolytics, can help open the airways, reduce mucus, and improve lung function.
Antibiotics
Children with CF are prone to frequent lung infections. Antibiotics, taken orally, inhaled, or intravenously, are often prescribed to treat or prevent bacterial infections in the lungs.
Pancreatic Enzyme Supplements
Since cystic fibrosis can interfere with the pancreas’ ability to produce enzymes that break down food, many children with CF need to take pancreatic enzyme supplements with meals to help them digest and absorb nutrients.
Nutritional Support
Maintaining proper nutrition is essential for children with CF. High-calorie, nutrient-dense meals and supplements are often recommended to ensure children get enough energy and vitamins, especially fat-soluble vitamins like A, D, E, and K.
CFTR Modulators
Newer treatments, known as CFTR modulators, target the underlying genetic cause of CF. These medications help correct the function of the defective CFTR protein, improving lung function and quality of life for many children with CF.
Living with Cystic Fibrosis
Managing cystic fibrosis requires ongoing care and attention to both physical and emotional well-being. Children with CF can still lead active and fulfilling lives, especially with early diagnosis and the right treatment plan. Regular visits to a pediatrician and specialists are essential for monitoring the condition and adjusting treatment as needed. Our team at Intown Pediatric & Adolescent Medicine is here to provide support, guidance, and expert care at every step of the way.
Frequently Asked Questions About Cystic Fibrosis
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Cystic fibrosis is one of the most common genetic disorders in the United States. It affects approximately 1 in 3,500 live births, with about 1,000 new cases diagnosed each year.
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While CF is a lifelong condition, advancements in treatment have significantly improved the quality of life for children with CF. Many children with CF can lead active, fulfilling lives with the right medical care and management.
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Most cases of CF are diagnosed shortly after birth through newborn screening. However, some children with milder symptoms may not be diagnosed until later in childhood.
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There is currently no cure for cystic fibrosis, but ongoing treatment and medical advancements continue to improve outcomes and extend the life expectancy of individuals with CF.
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Cystic fibrosis is inherited in an autosomal recessive pattern, meaning both parents must carry a copy of the defective gene for their child to develop the disease. If both parents are carriers, there is a 25% chance their child will have CF.
Schedule an Appointment for Cystic Fibrosis Diagnosis and Treatment in Atlanta
If your child has been diagnosed with cystic fibrosis or is showing symptoms, contact Intown Pediatric & Adolescent Medicine to schedule an appointment. Our team is here to provide expert care and support at our locations in Glenwood Park, Brookhaven, and Decatur, serving families throughout Atlanta.