Abstract: Objective　To analyze the detection rate of gene mutation in patients with maturity onset diabetes of the young (MODY) in Luoyang Central Hospital, Zhengzou University, and to explore the MODY-related clinical features. Methods　This was a retrospective cross-sectional study. A total of 121 diabetic patients with onset age <40 years treated at Department of Endocrinology, Luoyang Central Hospital, Zhengzhou University from August 2016 to November 2021 were included. Their general conditions and clinical indicators were collected, and genetic screening was performed. t and χ² tests were applied. Results　A total of 121 patients with early-onset diabetes mellitus were included, including 31 cases(25.6%) of type 1 diabetes mellitus (T1DM), 78 cases of (64.5%) type 2 diabetes mellitus (T2DM), and 12 cases (9.9%) of uncertain clinical type. MODY gene detection revealed that 7 patients among these 12 patients carried MODY mutation [3 cases of hepatocyte nuclear factor 1A(HNF1A), 2 cases of GCK, 1 case of hepatocyte nuclear factor 4A (HNF4A), and 1 case of hepatocyte nuclear factor 1B (HNF1B)]. Compared with the patients with T1DM, the patients with MODY mutation had obvious family history of diabetes (χ²=13.444, P<0.05) and relatively higher C-peptide levels 1 and 2 hours after meal and negative insulin autoantibody (t=29.410 and 5.039 andχ²=38.000; all P<0.05). Compared with the patients with T2DM, the patients with MODY mutation had a relatively younger age of onset, lower body mass index (BMI), shorter course of diabetes, obvious family history of diabetes, and higher 1-hour postprandial blood glucose (t=1.082, t=0.120, t=4.752, χ²=4.575, and t=0.970; all P<0.05). Conclusion　In clinical practice, MODY-related gene screening should be performed in a timely manner for patients with relatively early onset, negative insulin antibodies, family history of diabetes, and relatively high blood glucose and C-peptide levels, so as to improve the diagnostic accuracy and provide precise and individualized treatment as soon as possible.

Key words: Maturity onset diabetes of the young, Special type of diabetes, Genetic testing, Clinical features

摘要： 目的　分析郑州大学附属洛阳中心医院青少年起病的成人型糖尿病（MODY）基因突变检出率，并探讨MODY相关临床特点。方法　本研究为回顾性横断面研究，共纳入2016年8月至2021年11月就诊于郑州大学附属洛阳中心医院内分泌科发病年龄<40岁的糖尿病患者121例，收集其一般情况、临床指标等，进行基因筛查。统计学方法采用t检验、χ²检验。结果　纳入的早发糖尿病患者共有121例，有1型糖尿病（T1DM）31例（25.6%），有2型糖尿病（T2DM）78例（64.5%），临床分型不确定者有12例（9.9%），对该12例患者行MODY基因检测发现7例（5.8%）携带MODY突变：肝细胞核因子1A（HNF1A）3例、葡萄糖激酶（GCK）2例、肝细胞核因子4A（HNF4A）1例、肝细胞核因子1B（HNF1B）1例。与T1DM相比，携带MODY突变者具有明显糖尿病家族史（χ²=13.444，P<0.05），相对较高的餐后1 h、餐后2 h C肽水平、胰岛相关抗体阴性的特点（t=29.410、5.039，χ²=38.000，均P<0.05）。与T2DM相比，携带MODY突变者发病年龄相对较小，体质量指数（BMI）相对较低，糖尿病病程相对较短，有明显糖尿病家族史（t=1.082、0.120、4.752，χ²=4.575，均P<0.05），餐后1 h血糖相对较高的特点（t=0.970，P<0.05）。结论　在临床中，对于相对早发、胰岛相关抗体阴性、糖尿病家族史、相对较高的血糖及C肽水平者应及时进行MODY相关基因筛查，提高诊断准确率，尽早予以精准个体化治疗。

关键词: 青少年起病的成人型糖尿病, 特殊类型糖尿病, 基因检测, 临床特点