1. Chloride Conductance, Nasal Potential Difference and Cystic Fibrosis Pathophysiology
- Author
-
Paul M. Quinton, Fernando Antonio de Abreu e Silva, Paulo José Cauduro Marostica, and Elenara da Fonseca Andrade Procianoy
- Subjects
Epithelial sodium channel ,Male ,Cystic Fibrosis ,Respiratory System ,Genetic disease ,Cystic Fibrosis Transmembrane Conductance Regulator ,Cardiorespiratory Medicine and Haematology ,Cystic fibrosis ,Pulmonary function testing ,Membrane Potentials ,chemistry.chemical_compound ,2.1 Biological and endogenous factors ,CFTR ,Child ,Lung ,biology ,Cystic fibrosis transmembrane conductance regulator ,Pathophysiology ,Bicarbonate ,Child, Preschool ,Pseudomonas aeruginosa ,Female ,Pulmonary and Respiratory Medicine ,Adult ,medicine.medical_specialty ,Adolescent ,Genotype ,Mucociliary clearance ,Young Adult ,Rare Diseases ,Chlorides ,Clinical Research ,Internal medicine ,medicine ,Genetics ,Congenital Disorders ,Humans ,Pseudomonas Infections ,business.industry ,Infant ,medicine.disease ,Mucus ,Nasal Mucosa ,Endocrinology ,chemistry ,Mutation ,biology.protein ,Exocrine Pancreatic Insufficiency ,business - Abstract
PurposeCystic fibrosis (CF) is a multisystem genetic disease caused by dysfunction of the epithelial anionic channel Cystic Fibrosis Transmembrane conductance Regulator (CFTR). Decreased mucociliary clearance because of thickened mucus is part of the pulmonary disease pathophysiology. It is controversial if the thickened airway surface liquid (ASL) is caused by the deficient chloride secretion and excessive sodium (through ENaC) and water hyperabsorption from the periciliar fluid or by the lack of bicarbonate secretion with relative acidification of the ASL. Correlations between the magnitude of in vivo chloride conductance with phenotypic characteristics and CF genotype can help to elucidate these mechanisms and direct to new treatments.MethodsNasal potential difference was measured in 28 CF patients (age from 0.3 to 28 year) and correlated with pulmonary function, pancreatic phenotype, pulmonary colonization and genotype severity.ResultsThe CFTR-chloride conductance was better in older patients (r = 0.40; P = 0.03), in patients with better pulmonary function (r = 0.48; P = 0.01), and was associated with genotype severity. Higher chloride diffusion in the presence of a favorable chemical gradient was associated with Pseudomonas aeruginosa negativity (P
- Published
- 2020