From the Guidelines
Symptoms of cystic fibrosis in pediatric patients include persistent coughing with thick mucus, frequent lung infections, wheezing or shortness of breath, poor growth or weight gain, greasy stools, and salty-tasting skin. These symptoms are a result of the genetic disorder affecting the cells that produce mucus, sweat, and digestive fluids, making them thick and sticky rather than thin and slippery, as noted in the study by 1. The disorder primarily impacts the lungs and digestive system, with thick mucus clogging airways and obstructing the pancreas, preventing digestive enzymes from reaching the intestines. Key symptoms and complications can be summarized as follows:
- Respiratory issues: persistent coughing, frequent lung infections like pneumonia or bronchitis, wheezing or shortness of breath
- Digestive issues: poor growth or weight gain despite normal appetite, greasy, bulky stools
- Other symptoms: salty-tasting skin, nasal polyps, recurrent sinus infections, clubbing of fingers and toes Children may also experience male infertility later in life, as mentioned in the study by 1. Symptoms can vary in severity and may appear at birth or develop later, highlighting the importance of early diagnosis, typically through newborn screening tests that measure immunoreactive trypsinogen levels, followed by sweat tests to confirm the diagnosis, as discussed in the study by 1. Treatment involves a multidisciplinary approach including airway clearance techniques, medications to thin mucus, antibiotics for infections, pancreatic enzyme supplements, and specialized nutritional support, with the goal of improving morbidity, mortality, and quality of life for patients with cystic fibrosis.
From the Research
Symptoms of Cystic Fibrosis in Pediatric Patients
- Respiratory symptoms such as coughing and wheezing are common manifestations of cystic fibrosis in patients with the F508del gene variant, which is present in approximately 85.5% of people with cystic fibrosis in the US 2
- Steatorrhea and poor weight gain are also early symptoms of cystic fibrosis, often beginning in infancy 2
- Delayed weight and/or height gains are identified in 85.19% of cases, highlighting the importance of nutritional monitoring in pediatric patients with cystic fibrosis 3
- Pulmonary infections caused by Staphylococus aureus, Pseudomonas aeruginosa, and Stenotrophomonas maltophilia are more often associated with nutritional status abnormalities in children with cystic fibrosis 3
- Exocrine pancreatic insufficiency (EPI) is seen in 85% of patients with cystic fibrosis, leading to malabsorption and poor weight gain, but some patients may experience restored exocrine pancreatic function with CFTR modulator treatment such as ivacaftor 4
Disease Progression and Response to Early Treatment
- Pulmonary inflammation, infection, and structural lung damage can manifest very early in life, often in the absence of symptoms or signs, and are prevalent among preschool children and infants with cystic fibrosis 5
- Early childhood represents a pivotal period for intervention strategies that could delay or prevent the onset of lung damage and alter the longer-term clinical trajectory for individuals with cystic fibrosis 5
- Improved health is consistently observed in association with diagnosis via newborn screening compared with cohorts diagnosed later by symptomatic presentation, highlighting the importance of early diagnosis and treatment 6
- CF-associated growth impairment and airway abnormalities are reported at birth, and disease progression is reported in infancy and throughout childhood, emphasizing the need for close monitoring and management of pediatric patients with cystic fibrosis 6