European Respiratory Review

Oct 9, 2024 | err.ersjournals.com | Visser SK |Fox GJ |Eva Polverino

IntroductionBronchiectasis is a chronic respiratory disease characterised by permanent bronchial dilatation evidenced at chest computed tomography (CT), associated with a clinical syndrome featuring daily cough, daily sputum production and a history of pulmonary exacerbations [1]. In the last few decades, bronchiectasis has rapidly moved from being a rare or orphan disease to a global problem, with a large-scale trend towards increasing incidence and prevalence [2].

Oct 9, 2024 | err.ersjournals.com | Angela Burge |Anna Spathis |Natasha Smallwood |Anne Holland

IntroductionPeople with serious respiratory illness experience a high symptom burden, including fatigue, which is highly prevalent and has a profound impact on daily life participation and health-related quality of life (HRQoL) [1–5]. Fatigue is reported by up to 95% of people with COPD or interstitial lung disease (ILD) and 60% of people with asthma or pulmonary hypertension [1–4].

Sep 25, 2024 | err.ersjournals.com | Inderpaul Singh Sehgal

DiscussionWe found that SNPs in over 50 genes or regions have been linked to IPF in genomic DNA studies. Most genetic variants were in the noncoding regions of the genome. The mechanisms by which the implicated genes contribute to pulmonary fibrosis have been elucidated in less than half of them. Most variants reported here have been discovered in GWASs using a “hypothesis-free” approach. Only 22 of the 88 SNPs had odds ratios of >1.5 or <0.67 suggesting moderate–large effect sizes (table 2).

Sep 25, 2024 | err.ersjournals.com | Isabelle Fajac

IntroductionCystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the CF transmembrane conductance regulator (CFTR) gene [1]. It is the most common life-shortening genetic disease in the Caucasian population, affecting at least 100 000 individuals worldwide [2]. The CFTR gene encodes the CFTR protein, which is a chloride and bicarbonate channel expressed at the cell membrane of many epithelial cells and other cell types, including inflammatory cells [3, 4].

Sep 25, 2024 | err.ersjournals.com | Visser SK |Fox GJ |Sanjay H. Chotirmall |James Chalmers

IntroductionHeterogeneity is the fundamental aspect of bronchiectasis because the disease represents the final common pathway of several infectious, genetic, autoimmune and allergic disorders [1, 2]. Furthermore, epidemiological studies from large-scale multicentre registries have recognised bronchiectasis as heterogeneous in geographic regions [3–11].