Cystic fibrosis (CF) is a chronic, inherited disease that affects how water and salt move in and out of cells, which in turn impact the production of sweat, mucus, and digestive juices. CF patients produce an excessive amount of thick and sticky mucus, which over time builds up and leads to complications. The disease most often affects the lungs and the pancreas, but the intestines, liver, sweat glands, and reproductive organs can also be affected.
Mucus that accumulates in the lungs can clog the airways, causing breathing difficulties and frequent bacterial infections, while in the pancreas, mucus buildup prevents the release of digestive enzymes, affecting the absorption of important nutrients and the break down of food.
As a genetic disease, cystic fibrosis can start to be evident very early in life, and it is now possible to confirm a diagnosis very early, too.
Diagnosis of cystic fibrosis in children
In the U.S., the national newborn screening (NBS) program requires that all newborns be screened for CF, but screening method may differ from state to state (some states require two screening tests). The procedure is performed during the first few days of life at the hospital (and, occasionally, again a few weeks later), and it requires the collection of a few blood drops through a heel prick. Parents need to wait about a week to know the results of the exam that confirms the baby’s level of a chemical made by the pancreas, called immunoreactive trypsinogent (IRT).
IRT levels are usually low, but in CF patients they tend to be high. However, this test does not confirm the disease, because premature babies can also have high IRT levels as can those who are CF carriers (one defective gene). If the test comes back positive (two CF gene mutations), parents are recommended to take the baby to a CF-certified center for a sweat test, an exam — usually performed twice — that measures the amount of salt in the child’s sweat and is currently the most reliable way of diagnosing CF. The Cystic Fibrosis Foundation estimates that 1 in every 4 children born to parents who are both CF carriers will have the disease.
Characteristics of pediatric cystic fibrosis
Although children can be diagnosed with the disease before any symptoms appear, they will start experiencing symptoms due to mucus buildup. If the disease affects the lungs, common symptoms are coughing, wheezing, or breathing difficulties. Meconium ileus, which is a thick and sticky first bowel movement, may also be an early sign of CF in an infant, and can block the intestines. Such blockage may result in what is called a “failure to thrive,” or poor weight gain. In the pancreas, mucus can result in poor food and nutrient absorption, and again, a failure to thrive, while in the liver, it can block the bile duct.
Other disease symptoms include unusually salty-tasting skin, chronic chest or sinus infections, thick phlegm, poor growth, and constipation or greasy and bulky stools. All children experience disease symptoms differently, however, and in those with milder forms of the disease, symptoms may not appear for many years.
Only 30 years ago, children with CF were not expected to live longer than age 10, but many now are living well into adulthood because of improvements in care and disease treatment.
Treatment of cystic fibrosis in children
The treatment of children with cystic fibrosis depends on factors like age, overall health, medical history, disease extent, tolerance for specific medications or therapies, and parent preferences. Despite the fact that there is no cure for CF, treatments can improve a child’s quality of life and lifespan. These include airway clearance techniques, inhaled medications (using nebulizers), bronchodilators, nonsteroidal anti-inflammatories, and antibiotics to combat lung problems, as well as pancreatic enzymes, vitamin supplements, special diet, and treatments for intestinal obstructions, which aim to manage digestive problems.
The goal of all cystic fibrosis treatments is to prevent and treat infections, to keep the airways and lungs clear, and to maintain adequate absorption of nutrients and calories.
Note: Cystic Fibrosis News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
