Diagnosis and Treatment of Cystic Fibrosis in Infants with Meconium Ileus

Confirmación Diagnóstica Urgente

The American Academy of Pediatrics recommends that a sweat chloride test is the definitive diagnostic standard, with values >60 mEq/L confirming the diagnosis, although initial values in infants may be between 30-59 mEq/L 1, 2, 3
Meconium ileus occurs in 15-20% of children with cystic fibrosis and is diagnostic of the disease, with a median age of diagnosis of 0.2 months in these patients 4, 1, 2
Genetic studies of the CFTR gene should be performed to identify specific mutations, with the ΔF508 mutation being the most common associated with pancreatic insufficiency 4

The American Thoracic Society recommends that productive cough since the neonatal period requires aggressive intervention to prevent irreversible lung damage: antibiotics targeted at respiratory pathogens (Haemophilus influenzae, Staphylococcus aureus, Pseudomonas aeruginosa) should be started immediately 1
Chest physiotherapy should be started to establish airway clearance techniques 1
Bronchodilators such as albuterol may be tried to evaluate bronchospasm component, although response may be limited in cystic fibrosis 1
Infection with Pseudomonas aeruginosa leads to irreversible lung damage and death, with survival to 16 years of only 53% in children with chronic infection versus 84% without it 4

The American Academy of Pediatrics recommends that pancreatic enzyme replacement therapy (PERT) should be started empirically if cystic fibrosis is strongly suspected based on steatorrhea and failure to thrive 1, 2
A high-caloric diet of 120-150 kcal/kg/day should be provided to address malnutrition and promote catch-up growth 1
Macronutrient balance: 8-12% protein, 40-50% carbohydrates, 40-50% fat 1
Supplementation of fat-soluble vitamins (A, D, E, K) is necessary with pancreatic insufficiency 1, 2, 3

The Centers for Disease Control and Prevention reports that the median age of death from cystic fibrosis in the United States is 24 years, with 5% of deaths before 10 years, but the predicted median age of survival has increased to 33 years 4
Mortality is associated with chronic obstructive pulmonary disease, with respiratory failure being the primary cause of death in >90% of people with cystic fibrosis 4, 3