Diagnosis and Treatment of Monogenic Forms of Diabetes Mellitus: Focus on Mody-Diabetes

Abstract

Maturity-Onset Diabetes of the Young (MODY) is the most common form of monogenic diabetes resulting from a single gene mutation. It is characterized by mild hyperglycemia, autosomal dominant inheritance, early onset diabetes (<25 years), persistence of endogenous insulin secretion, and clinically and genetically distinct subtypes. Currently, 14 subtypes of MODY have been identified, differing in incidence, clinical features, severity of diabetes and associated complications, and response to treatment. This type of diabetes is mostly misdiagnosed as type 1 or type 2 diabetes mellitus due to clinical similarities to other types of diabetes, high cost and limited access to genetic testing, and lack of clinician awareness. As a result, thousands of patients do not receive proper treatment. Accurate diagnosis would allow for more effective therapeutic treatments other than those used for type 1 and type 2 diabetes. The purpose of this review is to raise clinicians’ awareness of MODY diabetes by focusing on updated information on methods for diagnosing and treating its 14 subtypes.

Keywords

• сахарный диабет зрелого возраста у молодых
• сахарный диабет
• генетическое тестирование
• генные мутации
• hnf1a
• глюкокиназа (gck)