Analysis of the Clinical Characteristics of the Maturity Onset Diabetes of the Young

青少年起病的成人型糖尿病(Maturity-Onset Diabetes of the Young, MODY)是一组遗传异质性很高的单基因糖尿病类型，约占所有糖尿病患者的1%~5%，常常起病隐匿，其临床特点和治疗策略与常见的1型和2型糖尿病均有所不同。至今已确定14个MODY致病基因，根据不同致病基因分为14个亚型，不同的亚型的临床特点和治疗方法也不尽相同，早期识别和治疗有助于患者控制血糖，提高生活质量，并减少并发症的风险。本文综述国内外4种常见MODY亚型的发病机制、临床特征及治疗策略，以提升临床对MODY的早期识别能力，推动基因检测指导下的精准诊疗。Maturity-onset diabetes of the young (MODY), a group of monogenic diabetes types with high genetic heterogeneity, accounts for approximately 1% to 5% of all diabetes patients. It often has an insidious onset, and its clinical features and treatment strategies are different from those of common type 1 and type 2 diabetes. So far, 14 MODY pathogenic genes have been identified, and they are classified into 14 subtypes based on different pathogenic genes. The clinical features and treatment methods of different subtypes are also not the same. Early identification and treatment can help patients control blood sugar, improve their quality of life, and reduce the risk of complications. This article reviews the pathogenesis, clinical features, and treatment strategies of four common MODY subtypes at home and abroad to enhance the early recognition ability of MODY in clinical practice and promote precise diagnosis and treatment guided by genetic testing.