Background: Cystic fibrosis (CF) is an autosomal recessive, chronic, potentially lethal genetic disease. CF manifestations are due to mutations in the CF transmembrane receptor transporter (CFTR) gene which codes for a protein (CFTR) that acts as an anion transporter, mainly chlorine, at epithelial cells where it is expressed. Cystic fibrosis related liver disease (CFRLD) includes a spectrum of hepatobiliary manifestations whose diagnosis and follow-up remains a challenge.
View Article and Find Full Text PDFObjectives: To study the health-related quality of life (HRQoL) and its possible determinant factors in Spanish children with eosinophilic esophagitis (EoE) and their parents.
Methods: Multicenter observational cross-sectional study. The Spanish version of the Pediatric Quality of Life Eosinophilic Esophagitis Module was filled out by EoE patients aged 8-18 and their parents.
Objectives/background: Vitamin D-binding protein (VDBP) and free vitamin D are new markers that are being studied as a possible markers of vitamin D status. The main aim of our study was to analyze the VDBP genotype and quantify the levels of free vitamin D in a sample of cystic fibrosis (CF) patients.
Methods: We conducted a multicenter, cross-sectional, and prospective study including patients with CF and exocrine pancreatic insufficiency who were clinically stable.
Background: When people with cystic fibrosis (PwCFs) are treated with cystic fibrosis transmembrane conductance regulator protein modulator (CFTRm), it leads to changes in body composition. An easy, non-invasive, and reproducible method to assess this is by means of electrical bioimpedance measurement, which complements the information provided by the already-known anthropometric parameters.
Methods: Seventeen adults with cystic fibrosis in treatment with elexacaftor-tezacaftor-ivacaftor (ETI) were recruited for a prospective, longitudinal, single-center study over 12 months.