Department of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, Beijing, China.
Department of Endocrinology and Metabolism, Beijing Pinggu Hospital, Beijing, China.
Genet Med. 2019 Apr;21(4):939-947. doi: 10.1038/s41436-018-0282-3. Epub 2018 Sep 24.
To estimate the prevalence of glucokinase variant-induced diabetes (GCK-DM) in a general population and to establish a clinical strategy for identifying GCK-DM from type 2 diabetes (T2DM).
A population-based study of diabetes in a rural region of Beijing, China, was conducted using two-stage stratified random cluster sampling. The glucokinase exons were sequenced in patients with diabetes.
A total of 3345 subjects, including 545 patients with diabetes, participated in this study. Seven patients with GCK-DM were identified. The estimated prevalence rates of GCK-DM were 0.21% and 1.3% in the whole population and the diabetic patients, respectively. In the newly diagnosed diabetic patients (New-DM), a triglyceride cutoff ≤1.43 mmol/L (126.55 mg/dl) could discriminate GCK-DM from T2DM with 100% sensitivity and 68.4% specificity. Its effectiveness was confirmed in an additional 134 early-onset young patients with T2DM and mild hyperglycemia. A clinical criterion based on triglyceride and mild hyperglycemia could differentiate GCK-DM from T2DM in New-DM and was shown to be effective in identifying GCK-DM from 559 early-onset young patients with T2DM in the hospital.
The prevalence of GCK-DM is approximately 1.3% in the Chinese population with diabetes, and the new clinical screening strategy is helpful for identifying GCK-DM.
评估葡萄糖激酶变异型糖尿病(GCK-DM)在普通人群中的患病率,并制定一种从 2 型糖尿病(T2DM)中识别 GCK-DM 的临床策略。
在中国北京农村地区进行了一项基于人群的糖尿病研究,采用两阶段分层随机聚类抽样。对糖尿病患者的葡萄糖激酶外显子进行测序。
共有 3345 名受试者,包括 545 名糖尿病患者,参与了这项研究。共发现 7 例 GCK-DM 患者。在整个人群和糖尿病患者中,GCK-DM 的估计患病率分别为 0.21%和 1.3%。在新诊断的糖尿病患者(New-DM)中,甘油三酯截断值≤1.43mmol/L(126.55mg/dl)可使 GCK-DM 与 T2DM 的敏感性达到 100%,特异性为 68.4%。在另外 134 例新诊断的年轻 T2DM 和轻度高血糖患者中,证实了该方法的有效性。基于甘油三酯和轻度高血糖的临床标准可在 New-DM 中区分 GCK-DM 和 T2DM,并在 559 例新诊断的年轻 T2DM 患者中证实了该标准在识别 GCK-DM 方面的有效性。
在中国糖尿病患者中,GCK-DM 的患病率约为 1.3%,新的临床筛选策略有助于识别 GCK-DM。