Cystic Fibrosis: Clinical Phenotypes in Children and Adolescents.

Autor: Dos Santos ALM; Department of Pediatric Gastroenterology, Brasília José Alencar Children's Hospital, Brasília, Brazil.; Department of Pediatric Gastroenterology, Distrito Federal Base Hospital, Brasília, Brazil., de Melo Santos H; Department of Pediatric Gastroenterology, Distrito Federal Base Hospital, Brasília, Brazil., Nogueira MB; Department of Pediatric Gastroenterology, Brasília José Alencar Children's Hospital, Brasília, Brazil., Távora HTO; Department of Pediatric Pneumology, Brasília José Alencar Children's Hospital, Brasília, Brazil., de Lourdes Jaborandy Paim da Cunha M; Department of Pediatric Gastroenterology, Brasília José Alencar Children's Hospital, Brasília, Brazil.; Department of Pediatric Gastroenterology, Distrito Federal Base Hospital, Brasília, Brazil., de Melo Seixas RBP; Department of Pediatric Gastroenterology, Brasília José Alencar Children's Hospital, Brasília, Brazil.; Department of Pediatric Gastroenterology, Distrito Federal Base Hospital, Brasília, Brazil., de Freitas Velloso Monte L; Department of Pediatric Pneumology, Brasília José Alencar Children's Hospital, Brasília, Brazil., de Carvalho E; Department of Pediatric Gastroenterology, Brasília José Alencar Children's Hospital, Brasília, Brazil.; Department of Pediatric Gastroenterology, Distrito Federal Base Hospital, Brasília, Brazil.
Jazyk: angličtina
Zdroj: Pediatric gastroenterology, hepatology & nutrition [Pediatr Gastroenterol Hepatol Nutr] 2018 Oct; Vol. 21 (4), pp. 306-314. Date of Electronic Publication: 2018 Oct 10.
DOI: 10.5223/pghn.2018.21.4.306
Abstrakt: 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.
Databáze: MEDLINE
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