Cystic Fibrosis: Clinical Phenotypes in Children and Adolescents

Abstract

PurposeThe 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.MethodsA 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.ResultsOf 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).ConclusionThe 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.

Cystic fibrosis associated liver disease in children

“…The prevalence of CFLD varies widely in children and adolescents, based upon the diagnostic criteria used ranging from < 5% to 68%[ 17 , 18 ]. CFLD is more common and the median age of diagnosis is earlier in males[ 19 ].…”

“…The degree of liver involvement and the rate of progression of liver disease varies significantly among individuals. The awareness of CFLD and its clinical implications has increased as evidenced by an early diagnosis and a drop in the median time at diagnosis from adolescence to < 3 years of age[ 17 , 18 ].…”

“…Risk factors for CFLD include male sex, presence of severe mutations, presence of SERPINA 1Z allele, history of meconium ileus, exocrine pancreatic insufficiency and CF-related diabetes[ 20 ]. The most common clinical feature is asymptomatic hepatomegaly detected by clinical examination or ultrasonography[ 18 ]. Pancreatic insufficiency occurs in 99% of patients with CFLD[ 19 ].…”

Efficacy of Glutathione for Patients With Cystic Fibrosis: A Meta-analysis of Randomized-Controlled Studies

“…4,5 Many children suffer from growth failure. 6 Lung function scores are significantly correlated with body mass index (BMI) and weight percentile in these patients. 7–9 Glutathione occurs in the epithelial lining fluid of lower airways at very high concentration.…”

MiRNA Expression Profile in the Airways Is Altered during Pulmonary Exacerbation in Children with Cystic Fibrosis—A Preliminary Report

“…Cystic fibrosis (CF) is a common autosomal recessive disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. It is a multiorgan disease that affects the pancreas, gastrointestinal and reproductive tracts and lungs [ 1 ]. Common pulmonary symptoms include deposition of thick mucus that leads to severe airflow obstruction, chronic inflammation and chronic airway infection [ 2 ].…”