Keskinler Mirac Vural, Erbakan Ayse Naciye, Oguz Aytekin
Istanbul Medeniyet University, Faculty of Medicine, Department of Internal Medicine, Istanbul, Turkey.
Medeni Med J. 2020;35(4):290-294. doi: 10.5222/MMJ.2020.56805. Epub 2020 Dec 25.
Maturity-onset diabetes of the young (MODY) is a non-rare group of monogenic inherited diabetes which is commonly confused with type 1 and type 2 diabetes. Due to high costs of genetic tests that provide a definitive diagnosis, some screening scales are used to identify the high-risk patients. In this study, we aimed to evaluate whether (MODY Probability Calculator [MPC]) which is one of the screening tests will be helpful in identifying our high-risk patients among young patients with type 2 diabetes.
The patients received the diagnosis of type 2 diabetes aged <35 years were included in the study. The anthropometric characteristics of the patients, the treatments they received at the time of diagnosis, and the current treatments were recorded by retrospectively scanning patient files.The patients with the diagnosis of type 1 diabetes having autoantibodies to the pancreas were excluded from the study. The probability of MODY was calculated using MPC..
The mean age of 72 patients (40% female) was 41.5±7.2 years. Eighteen of the patients (25%) were using insulin at the time of diagnosis. The mean HbA1c was 8.6±2.2% and C-peptide was 2.35±1.52 ng/ml. The mean MODY positive predictive score calculated by MPC for risk of MODY was 11.23 percent. There were 61 patients (84.7%) with a risk of ≤20%, 9 patients (12.5%) with a risk of 20-50%, and 2 patients (2.8%) with ≥50%. In the group with MODY PPV score >20%, the age of onset of diabetes and the body mass index was significantly lower than the others (p<0.05, for both). There was no significant difference between current treatments of both groups.
It has been reported that MODY risk calculated by MPC may yield different results in different populations. The results of this study showed that 15% of our young-onset diabetes patients had an MPC score above 20 percent. Requesting MODY genetic tests in this 15% of the patient group can be presented as a practical suggestion.
青年发病的成年型糖尿病（MODY）是一组并非罕见的单基因遗传性糖尿病，常与1型和2型糖尿病相混淆。由于提供明确诊断的基因检测成本高昂，一些筛查量表被用于识别高危患者。在本研究中，我们旨在评估筛查试验之一的MODY概率计算器（MPC）是否有助于在2型糖尿病青年患者中识别出我们的高危患者。
纳入年龄<35岁且被诊断为2型糖尿病的患者。通过回顾性查阅患者病历记录患者的人体测量学特征、诊断时接受的治疗以及当前治疗情况。排除诊断为1型糖尿病且存在胰腺自身抗体的患者。使用MPC计算MODY的概率。
72例患者（40%为女性）的平均年龄为41.5±7.2岁。18例患者（25%）在诊断时使用胰岛素。平均糖化血红蛋白（HbA1c）为8.6±2.2%，C肽为2.35±1.52 ng/ml。MPC计算的MODY阳性预测评分中，MODY风险的平均评分为11.23%。有61例患者（84.7%）风险≤20%，9例患者（12.5%）风险为20 - 50%，2例患者（2.8%）风险≥50%。在MODY阳性预测值（PPV）评分>20%的组中，糖尿病发病年龄和体重指数显著低于其他组（两者均p<0.05）。两组当前治疗之间无显著差异。
据报道，MPC计算的MODY风险在不同人群中可能产生不同结果。本研究结果显示，我们的早发型糖尿病患者中有15%的MPC评分高于20%。在这15%的患者组中要求进行MODY基因检测可作为一项实用建议。
