Elexacaftor/Tezacaftor/Ivacaftor (ELX/TEZ/IVA) is a new CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) modulator treatment, used over the last few years, which has shown an improvement in different clinical outcomes in patients with cystic fibrosis (CF). The objective of this study was a systematic research of the literature on the efficacy and safety of this CFTR modulator on patients with CF. A search of Pubmed was conducted for randomized clinical trials and observational studies published from 2012 to September 2022. The included full manuscripts comprised nine clinical trials and 16 observational studies, whose participants were aged ≥12 years or were children 6–11 years old with at least one Phe508del mutation and/or advanced lung disease (ALD). These studies reported that ELX/TEZ/IVA has a significant positive effect on the lung function of patients with CF, by ameliorating parameters such as FEV₁, LCI, pulmonary exacerbations or sweat chloride concentration, increasing BMI and improving quality of their life. Its role in cystic fibrosis-related diabetes (CFRD) is not yet clear. It was found that this new CFTR modulator has an overall favorable safety profile, with mild to moderate adverse events. Further studies are needed for a deeper understanding of the impact of CFTR modulators on other CF manifestations, or the possibility of treating with ELX/TEZ/IVA CF patients with rare CFTR mutations.

Clinical spectrum of primary ciliary dyskinesia in childhood

Menetrier's disease is a rare cause of protein-losing gastropathy characterised by hypertrophy of the gastric folds. Three cases are reported. Helicobacter pylori was detected by culture and CLO test in two cases and on follow-up gastroscopy in the other. The first two patients were given eradication therapy and hypertrophic gastropathy resolved whereas in the third the disease remitted prior to the eradication treatment. Typical sonographic features were thickened gastric wall with preservation of the wall stratification. A review of the literature found eight cases of Menetrier's disease associated with H. pylori in children and these cases are briefly reviewed. H. pylori infection should be considered in all children with Menetrier's disease and, if isolated, eradication treatment should be administered.