Skin Biomarkers for Cystic Fibrosis: A Potential Non-Invasive Approach for Patient Screening

[摘要] BackgroundCystic fibrosis (CF) is a disabling genetic disease with an increased prevalence in European heritage populations. Currently, the most used technique for collection of CF samples and diagnosis is provided through uncomfortable tests, with uncertain results, mostly based on chloride concentration in sweat. Since CF mutation induces many metabolic changes in patients, exploring these alterations might be an alternative to visualize potential biomarkers that could be used as interesting tools for further diagnostic upgrade, prioritizing simplicity, low cost, and quickness.

[学科分类] 儿科学

[关键词] cystic fibrosis;cystic fibrosis transmembrane conductance regulator;screening;skin;biomarkers;metabolomics