[Gastrointestinal manifestations of cystic fibrosis in children]
N Zuloaga1, N Vivallos2, R Faúndez3
1Universidad de Chile, Santiago, Chile.
Insights
Early diagnosis of cystic fibrosis (CF) through neonatal screening improves nutritional outcomes. Gastrointestinal issues and malnutrition are common in CF patients, impacting prognosis and survival.
Area of Science:
- Pediatric Gastroenterology
- Genetics
- Pulmonology
Background:
- Cystic Fibrosis (CF) is a severe genetic disorder impacting multiple organs, with lung complications posing the greatest risk.
- Nutritional status is intrinsically linked to CF morbidity, mortality, and overall survival.
- Limited national data exists on the gastrointestinal and hepatic manifestations in pediatric CF populations.
Purpose of the Study:
- To characterize the gastrointestinal, nutritional, and genetic profiles of pediatric CF patients.
- To evaluate the impact of neonatal screening on the clinical evolution of CF patients.
- To describe the prevalence of specific CFTR gene mutations in the studied cohort.
Main Methods:
- A retrospective study involving 127 pediatric CF patients across four hospitals.
- Inclusion criteria: confirmed CF diagnosis via two positive sweat tests (Gibson and Cooke method).
- Data collected: clinical variables (sex, age, nutrition, diagnosis date, presentation, evolution, therapies) and genetic analysis (36 mutation panel).
Main Results:
- Gastrointestinal manifestations, primarily malabsorption and malnutrition, affected over 80% of patients.
- Respiratory issues were present in over 60% of patients.
- Neonatal screening via Immunoreactive Trypsinogen (IRT) was associated with improved nutritional outcomes; average diagnostic delay was 4 months.
Conclusions:
- Gastrointestinal pathology, including pancreatic, intestinal, and hepatic involvement, is a lifelong concern in CF.
- Malnutrition is a significant factor exacerbating CF prognosis and mortality.
- Effective management of gastrointestinal symptoms and malnutrition is crucial for improving CF patient outcomes.
Introduction:
Cystic fibrosis (CF) is a multisystemic disease, with high morbidity and mortality, and its early diag nosis improves results. Lung conditions are the main cause of morbidity and mortality and are clo sely related to nutritional status and survival. There is little national information about the liver and gastrointestinal characteristics in pediatric patients with CF.
Objective:
to describe at a gastrointes tinal level, the general, nutritional, and genetic characteristics and the evolution of CF carriers with/ without neonatal screening.
Patients And Method:
Retrospective study carried out in 4 public referral hospitals in the Metropolitan Region. The diagnosis of CF confirmed with two positive sweat tests (Gibson and Cooke method) was considered as an inclusion criterion. Those patients with unconfir med neonatal screening tests through Immunoreactive Trypsinogen (IRT) or with only one positive sweat test were excluded. Sex, age, nutritional status, date of diagnosis, clinical presentation at the onset, evolution, and therapies received were recorded as clinical variables, and as laboratory ones, genetic study by means of a diagnostic panel with 36 mutations. The STATA 12 software was used for statistical analysis.
Results:
127 patients were included. Respiratory manifestations (recurrent obstructive bronchial syndrome and pneumonia) were present in >60% and gastrointestinal ones (mainly malabsorption and malnutrition syndrome) in >80% of patients. On average, diagnostic confirmation took 4 months. The diagnosis guided by IRT was associated with better nutritional outcomes in the evolution of the patient. In 81.1% of the patients, the genetic study was performed. The most frequent mutations were those associated with DF508 (deletion of phenylalanine 508). 5.8% of the patients presented mutations not included in the gene panel used.
Conclusions:
Gas trointestinal CF appears with pancreatic, intestinal, and hepatic pathology throughout life. Malnutri tion is a frequently present factor, which worsens the prognosis. The management of gastrointestinal manifestations and malnutrition are relevant to improve the morbidity and mortality of CF patients.
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