Diabetes Research Division, Department of Medicine, Gentofte Hospital, University of Copenhagen, Copenhagen, DenmarkDepartment of Biomedical Sciences, Panum Institute, University of Copenhagen, Copenhagen, DenmarkNovo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen, Denmark
Diabetes Research Division, Department of Medicine, Gentofte Hospital, University of Copenhagen, Copenhagen, DenmarkDepartment of Biomedical Sciences, Panum Institute, University of Copenhagen, Copenhagen, DenmarkNovo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen, Denmark.
Diabetes. 2014 Aug;63(8):2838-44. doi: 10.2337/db13-1878. Epub 2014 Mar 27.
Maturity-onset diabetes of the young (MODY) is a clinically and genetically heterogeneous subgroup of nonautoimmune diabetes, constituting 1-2% of all diabetes. Because little is known about incretin function in patients with MODY, we studied the incretin effect and hormone responses to oral and intravenous glucose loads in patients with glucokinase (GCK)-diabetes (MODY2) and hepatocyte nuclear factor 1α (HNF1A)-diabetes (MODY3), respectively, and in matched healthy control subjects. Both MODY groups exhibited glucose intolerance after oral glucose (most pronounced in patients with HNF1A-diabetes), but only patients with HNF1A-diabetes had impaired incretin effect and inappropriate glucagon responses to OGTT. Both groups of patients with diabetes showed normal suppression of glucagon in response to intravenous glucose. Thus, HNF1A-diabetes, similar to type 2 diabetes, is characterized by an impaired incretin effect and inappropriate glucagon responses, whereas incretin effect and glucagon response to oral glucose remain unaffected in GCK-diabetes, reflecting important pathogenetic differences between the two MODY forms.
青少年发病的成年型糖尿病（MODY）是一种临床和遗传异质性的非自身免疫性糖尿病亚组，占所有糖尿病的 1-2%。由于对 MODY 患者肠促胰岛素功能知之甚少，我们研究了葡萄糖激酶（GCK）糖尿病（MODY2）和肝细胞核因子 1α（HNF1A）糖尿病（MODY3）患者以及匹配的健康对照者分别口服和静脉葡萄糖负荷后的肠促胰岛素效应和激素反应。口服葡萄糖后，两组 MODY 患者均表现出葡萄糖耐量受损（在 HNF1A 糖尿病患者中最为明显），但只有 HNF1A 糖尿病患者的肠促胰岛素效应受损和胰高血糖素反应不当。两组糖尿病患者对静脉葡萄糖的胰高血糖素抑制均正常。因此，HNF1A 糖尿病与 2 型糖尿病一样，其特征是肠促胰岛素效应受损和胰高血糖素反应不当，而 GCK 糖尿病的口服葡萄糖肠促胰岛素效应和胰高血糖素反应不受影响，反映了两种 MODY 形式之间的重要发病机制差异。
