Pediatr Gastroenterol Hepatol Nutr.  2018 Oct;21(4):306-314. 10.5223/pghn.2018.21.4.306.

Cystic Fibrosis: Clinical Phenotypes in Children and Adolescents

Affiliations
  • 1Department of Pediatric Gastroenterology, Brasília José Alencar Children's Hospital, Brasília, Brazil. analuizamelomedc@hotmail.com
  • 2Department of Pediatric Pneumology, Brasília José Alencar Children's Hospital, Brasília, Brazil.
  • 3Department of Pediatric Gastroenterology, Distrito Federal Base Hospital, Brasília, Brazil.

Abstract

PURPOSE
The objective of this study was to describe the clinical phenotypes of children and adolescents with cystic fibrosis (CF); and to assess the role of pancreatic insufficiency and neonatal screening in diagnosis.
METHODS
A cross-sectional study was conducted, which included 77 patients attending a reference center of CF between 2014 and 2016. Epidemiological data, anthropometric measurements, and the presence of pulmonary, pancreatic, gastrointestinal and hepatobiliary manifestations were evaluated based on clinical data and complementary examinations.
RESULTS
Of the 77 patients, 51.9% were male, with a median age of 147 months (7.0-297.0 months), and the majority showed adequate nutritional status. The most common phenotype was pulmonary (92.2%), followed by pancreatic (87.0%), with pancreatic insufficiency in most cases. Gastrointestinal manifestation occurred in 46.8%, with constipation being the more common factor. Hepatobiliary disease occurred in 62.3% of patients. The group with pancreatic insufficiency was diagnosed earlier (5.0 months) when compared to the group with sufficiency (84.0 months) (p=0.01). The age of diagnosis was reduced following implementation of neonatal screening protocols for CF (6.0 months before vs. 3.0 months after, p=0.02).
CONCLUSION
The pulmonary phenotype was the most common, although extrapulmonary manifestations were frequent and clinically relevant, and should mandate early detection and treatment. Neonatal screening for CF led to earlier diagnosis in patients with pancreatic failure, and therefore, should be adopted universally.

Keyword

Cystic fibrosis; Neonatal screening; Exocrine pancreatic insufficiency; Gastrointestinal diseases; Liver diseases

MeSH Terms

Adolescent*
Child*
Constipation
Cross-Sectional Studies
Cystic Fibrosis*
Diagnosis
Exocrine Pancreatic Insufficiency
Gastrointestinal Diseases
Humans
Infant, Newborn
Liver Diseases
Male
Neonatal Screening
Nutritional Status
Phenotype*
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