Diabetes technology & therapeutics · 2025
Review of Monogenic Diabetes: Clinical Features and Precision Medicine in Genetic Forms of Diabetes.
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Cobry Erin C, Steck Andrea K
Аннотация
Monogenic diabetes is a group of diseases that encompasses a growing number of genetic abnormalities affecting pancreatic function/development leading to glycemic dysregulation. This includes conditions that have historically been referred to as maturity onset diabetes of the young or MODY in addition to neonatal diabetes mellitus. While recognition of a genetic or inherited form of diabetes has been known for decades, advances in molecular genetic testing have resulted in identification of specific forms of monogenic diabetes. Despite this, these genetic forms of diabetes remain widely underreported. It is important to be able to identify genetic forms of diabetes as treatment, monitoring for microvascular and macrovascular complications, and overall management varies for the different forms of monogenic diabetes. Furthermore, the identification of a specific monogenic form of diabetes can significantly impact the person's quality of life and other family members, as well as health care costs. This article highlights the identification, treatment, and management for various forms of monogenic diabetes and addresses some unmet needs in caring for people with monogenic forms of diabetes.