Diagnosis & Disease Information

A study conducted by researchers from Brazil showed that high-throughput sequencing technology (HTS) could be useful to establish a definitive molecular diagnosis of cystic fibrosis (CF). “HTS technology applied to the identification of pathogenic variants associated with the development of this disease allows for the introduction of therapy with CFTR modulators that favour better patient…

The treatment of cystic fibrosis (CF) with elexacaftor/tezacaftor/ivacaftor (ETI) might be associated with increased lung function and body mass index (BMI), fewer disease exacerbations, and only mild side effects, according to a study published in the journal Pharmacological Research & Perspectives. This multicenter longitudinal observational study gathered 20 Dutch patients with CF who received ETI…

A new study has found an association between challenged urine bicarbonate excretion and clinical characteristics in cystic fibrosis (CF). The study, published in the Annals of Internal Medicine, observed partially restored renal cystic fibrosis transmembrane conductance regulator (CFTR) function in patients with CF undergoing therapy with elexacaftor/tezacaftor/ivacaftor. “The objective of this study was to conduct…

Gastrointestinal symptoms are present in patients with cystic fibrosis (CF) across all ages, indicating that patients generally suffer from a high gastrointestinal disease burden, according to a study published in the Journal of Cystic Fibrosis.  CF is characterized by thickened secretions and impaired ciliary function in the lungs, the luminal gut, and the pancreas. Although…