Pediatric Endocrine Institute, Ha'Emek Medical Center, Afula, Israel; The Rappaport Faculty of Medicine, Israel Institute of Technology, Haifa, Israel.
Baruch Padeh Medical Center, Poriya, Israel.
Diabetes Res Clin Pract. 2021 May;175:108791. doi: 10.1016/j.diabres.2021.108791. Epub 2021 Apr 2.
To assess long-term outcome of patients with maturity onset diabetes of the young, type 2 (MODY2) in a unique large cohort of patients with the same genetic and environmental background.
We prospectively evaluated 162 patients aged 5 to 82 years, belonging to the same extended family living in the same village. All patients underwent molecular testing for the glucokinase (GCK) gene mutation identified in the proband, and were categorized into three groups (MODY2, type 2 diabetes and controls).
The 5.5-year-old proband had the c.1278_1286del mutation in the GCK and was diagnosed with MODY2. Forty-two out of 162 participants were positive for the mutation and 39 had type 2 diabetes. Patients were followed for a mean 10.2 ± 3.7 years (range 0-14). Mean fasting blood glucose and HbA1c increased significantly over the years in MODY2 patients (133 vs. 146 mg/dL; 6.9% vs. 8.2%, respectively). Increase in HbA1c occurred only in the obese/overweight subgroups. Twenty-five percent of MODY2 patients developed diabetes complications, all were above 40 years of age.
Although MODY2 commonly has a benign disease course, weight gain is a risk factor for diabetes complications, requiring life-long follow-up and in some patients, medical intervention.
在具有相同遗传和环境背景的独特大型患者队列中，评估 2 型年轻成人发病型糖尿病（MODY2）患者的长期预后。
我们前瞻性评估了 162 名年龄在 5 至 82 岁之间的患者，他们属于居住在同一村庄的同一个扩展家庭。所有患者均接受了与先证者相同基因突变的葡萄糖激酶（GCK）基因检测，并分为三组（MODY2、2 型糖尿病和对照组）。
先证者 5.5 岁时携带 GCK 基因 c.1278_1286del 突变，被诊断为 MODY2。162 名参与者中有 42 名突变阳性，39 名患有 2 型糖尿病。患者平均随访 10.2±3.7 年（范围 0-14）。MODY2 患者的空腹血糖和 HbA1c 多年来均显著升高（133 与 146mg/dL；6.9%与 8.2%）。HbA1c 的升高仅发生在肥胖/超重亚组中。25%的 MODY2 患者发生了糖尿病并发症，均在 40 岁以上。
尽管 MODY2 通常具有良性病程，但体重增加是发生糖尿病并发症的危险因素，需要终身随访，某些患者需要药物干预。
