HNF1A基因相关青少年起病的成人糖尿病诊疗进展  

Progress in diagnosis and treatment of HNF1A-MODY

作　　者：罗宽宏 王智华 陈阳 王思琪 吴贽忻 黎慧清[1] 郑涓[1] LUO Kuan-hong;WANG Zhi-hua;CHEN Yang;WANG Siqi;WU Zhi-xin;LI Hui-qing;ZHENG Juan(Department of Endocrinology,Union Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan 430023,China)

机构地区：[1]华中科技大学同济医学院附属协和医院内分泌科,湖北武汉430023

出　　处：《中国实用内科杂志》2024年第11期911-916,共6页Chinese Journal of Practical Internal Medicine

基　　金：国家自然科学基金(81974111)。

摘　　要：由肝细胞核因子1A(HNF1A)基因突变引起的青少年起病的成年型糖尿病(maturity-onset diabetes of the young,MODY)简称为HNF1A-MODY,约占所有类型糖尿病的1%~3%。由于其临床表现异质性高,与1型、2型糖尿病临床特征存在交叉重叠,易漏诊或误诊为1型糖尿病(type 1 diabetes mellitus,T1DM)以及2型糖尿病(type 2 diabetes mellitus,T2DM)。因此,尽早诊断有助于为患者提供安全有效的治疗方案,改善长期预后,提高生存质量,降低医疗成本。文章结合国内外研究进展,对HNF1A-MODY的流行病学、临床特征、诊断及治疗策略进行综述,旨在为HNF1A-MODY的诊断提供依据,有望对其个体化治疗提供帮助。HNF1A-MODY is a type of maturity-onset diabetes of the young(MODY)caused by mutations in the liver nuclear factor 1A(HNF1A)gene,which accounts for about 1%to 3%of all types of diabetes.Due to the high heterogeneity of its clinical manifestations,it overlaps with the clinical features of type 1(T1DM)and type 2 diabetes mellitus(T2DM),and is easily missed or misdiagnosed as T1DM and T2DM.Therefore,early diagnosis helps to provide patients with safe and effective treatment options,improve long-term prognosis and quality of life,and reduce medical costs.Based on the research progress at home and abroad,this paper reviews the epidemiology,clinical features,and diagnosis and treatment strategies of HNF1A-MODY,aiming to provide evidence for the diagnosis of HNF1A-MODY,which is expected to provide help for its individualized treatment.

关 键 词：单基因糖尿病 HNF1A-MODY 磺脲类药物 诊断 治疗 

分 类 号：R58[医药卫生—内分泌]