Cystic Fibrosis

Cystic fibrosis (CF), an inherited disease affecting all races and ethnicities, results from defects in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which leads to dysregulations in the ion and fluid balance across epithelial membranes throughout the body.1–3 The CFTR protein is an anion channel that functions as a transmembrane traffic ATPase which is […]

Welcome to the latest edition of US Respiratory & Pulmonary Diseases, which features a diverse range of articles reflecting the wide spectrum of respiratory disease. We begin with a focus on chronic obstructive pulmonary disease (COPD), the third leading cause of death in the US. In an expert interview, Antonello Punturieri discusses the COPD National […]

Welcome to the latest edition of European Respiratory & Pulmonary Diseases. The past decade has seen numerous advances in the field of respiratory care, and yet respiratory disease remains a leading cause of death and disability worldwide. This edition features a number of topical articles, which illustrate the progress and challenges in this active area […]

Cystic fibrosis (CF) is caused by mutations in a single gene; treatment burden is high and life expectancy is significantly shortened (median age of survival in the UK is ~40 years). Although CF is a multi-organ disease, chronic lung infection and inflammation are the biggest causes of morbidity and mortality in the developed world. Identification […]

Case Presentation The patient described was diagnosed with cystic fibrosis (CF) at 2 years of age. She was pancreatic insufficient and had an F508del homozygous genotype. Her pretransplant CF-course was complicated by CF-related diabetes, chronic sino-pulmonary colonization with Pseudomonas aeruginosa (but not Aspergillus), CF-liver disease with stable cirrhosis and portal hypertension and normal synthetic function, […]