Il diabete monogenico. Una condizione clinica frequentemente trascurata

Abstract

Monogenic diabetes (MD) includes several forms of hyperglycemia caused by mutations in genes capable of controlling glucose homeostasis. Although MD explains 0.5-5.0% of non-autoimmune diabetes, it remains mostly overlooked. This is unfortunate, given that most of the genes involved in MD influence the monitoring and/or therapy of carrier patients, thus representing an excellent example of “precision medicine” implemented in real-life clinical practice. This review provides a practical update to help identify patients who merit genetic testing for MD and how to best clinically manage carrier patients.