Cystic Fibrosis: Clinical Phenotypes in Children and Adolescents

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. A cross-sectional study was conducted, which included 77 patients attending a reference c...

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Published in:	Pediatric gastroenterology, hepatology & nutrition Vol. 21; no. 4; pp. 306 - 314
Main Authors:	Dos Santos, Ana Luiza Melo, de Melo Santos, Helen, Nogueira, Marina Bettiol, Távora, Hugo Tadashi Oshiro, de Lourdes Jaborandy Paim da Cunha, Maria, de Melo Seixas, Renata Belém Pessoa, de Freitas Velloso Monte, Luciana, de Carvalho, Elisa
Format:	Journal Article
Language:	English
Published:	Korea (South) The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition 01-10-2018 대한소아소화기영양학회
Subjects:	Original 소아과학 Cystic fibrosis Liver diseases Exocrine pancreatic insufficiency Gastrointestinal diseases Neonatal screening
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Summary:	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. 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. 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) ( =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, =0.02). 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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	2234-8646 2234-8840
DOI:	10.5223/pghn.2018.21.4.306