Caironi Verdiana, Schwitzgebel Valérie M, Jornayvaz François R, Gariani Karim
Service d'endocrinologie, diabétologie, nutrition et éducation thérapeutique du patient, HUG, 1211 Genève 14.
Unité d'endocrinologie et de diabétologie pédiatriques, Service de développement et de croissance, Département de pédiatrie, gynécologie et obstétrique, HUG, 1211 Genève 14.
Rev Med Suisse. 2021 Jun 2;17(741):1062-1066.
MODY diabetes, for Maturity Onset Diabetes of the Young, is a form of monogenic diabetes characterized by a typical onset before the age of 25 years, the lack of autoimmunity against the b cells of the pancreas, a preserved β cells function and an autosomal dominant mode of inheritance. This type of diabetes constitutes 2 to 5% of all cases of diabetes but remains often undiagnosed. Nearly 15 MODY subtypes have been identified to date. The 3 most common subtypes are caused by mutations in the genes encoding glucokinase, HNF1a and HNF4a, and account for approximately 80% of all MODY cases. Carrying out a genetic test can thus make it possible to make the diagnosis of MODY diabetes and to set up an appropriate treatment. In this article we will discuss these 3 main MODY sub-type, although there are other forms, which may be characterized by associated specific organ damage.
青少年发病的成年型糖尿病（MODY）是一种单基因糖尿病，其特征为通常在25岁之前发病、缺乏针对胰腺β细胞的自身免疫性、β细胞功能保留以及常染色体显性遗传模式。这类糖尿病占所有糖尿病病例的2%至5%，但常常未被诊断出来。迄今为止，已确定了近15种MODY亚型。最常见的3种亚型是由编码葡萄糖激酶、肝细胞核因子1α（HNF1a）和肝细胞核因子4α（HNF4a）的基因突变引起的，约占所有MODY病例的80%。因此，进行基因检测能够诊断MODY糖尿病并制定适当的治疗方案。在本文中，我们将讨论这3种主要的MODY亚型，尽管还有其他形式，其可能以相关的特定器官损害为特征。
