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
罗宽宏 1王智华 1陈阳 1王思琪 1吴贽忻 1黎慧清 1郑涓1
作者信息
- 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
- 折叠
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.
Abstract
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Key words
monogenic diabetes mellitus/HNF1A-MODY/sulfonylureas/diagnosis/treatment引用本文复制引用
出版年
2024
国家科技期刊平台
NSTL
万方数据