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Cystic Fibrosis: Clinical Phenotypes in Children and Adolescents

Ana Luiza Melo Dos Santos1,2, Helen de Melo Santos2, Marina Bettiol Nogueira1

  • 1Department of Pediatric Gastroenterology, Brasília José Alencar Children's Hospital, Brasília, Brazil.

Pediatric Gastroenterology, Hepatology & Nutrition
|October 23, 2018
PubMed

Insights

This study highlights common cystic fibrosis (CF) phenotypes in children and adolescents, emphasizing frequent pulmonary and pancreatic issues. Early diagnosis through neonatal screening significantly improves outcomes for CF patients with pancreatic insufficiency.

Area of Science:

  • Pediatrics
  • Pulmonology
  • Gastroenterology

Background:

  • Cystic Fibrosis (CF) presents diverse clinical phenotypes in pediatric populations.
  • Understanding these phenotypes is crucial for timely diagnosis and management.
  • Pancreatic insufficiency and extrapulmonary manifestations are common in CF patients.

Purpose of the Study:

  • To describe the clinical phenotypes of pediatric and adolescent patients with cystic fibrosis (CF).
  • To evaluate the impact of pancreatic insufficiency on diagnosis.
  • To assess the role of neonatal screening in the early detection of CF.

Main Methods:

  • A cross-sectional study included 77 pediatric and adolescent CF patients.
  • Data collected included epidemiological, anthropometric, and clinical manifestations (pulmonary, pancreatic, gastrointestinal, hepatobiliary).
  • Statistical analysis compared diagnostic ages based on pancreatic status and neonatal screening.

Main Results:

  • The most prevalent phenotype was pulmonary (92.2%), followed by pancreatic (87.0%), with most cases exhibiting pancreatic insufficiency.
  • Hepatobiliary (62.3%) and gastrointestinal (46.8%) manifestations were also frequent.
  • Patients with pancreatic insufficiency were diagnosed significantly earlier (5.0 months) than those with sufficiency (84.0 months).
  • Neonatal screening reduced the age of diagnosis from 6.0 to 3.0 months.

Conclusions:

  • Pulmonary and extrapulmonary manifestations in CF are common and require early detection and treatment.
  • Neonatal screening for CF significantly advances diagnosis in patients with pancreatic failure.
  • Universal adoption of neonatal screening is recommended for improved CF patient outcomes.
Abstract

Keywords:
Cystic fibrosisExocrine pancreatic insufficiencyGastrointestinal diseasesLiver diseasesNeonatal screening

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