Department of Pediatrics, Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic-Ro 43-Gil, Songpa-Gu, Seoul, 05505, Republic of Korea.
Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.
BMC Pediatr. 2021 Mar 4;21(1):108. doi: 10.1186/s12887-021-02575-6.
The prevalence of monogenic diabetes is estimated to be 1.1-6.3% of patients with diabetes mellitus (DM) in Europe. The overlapping clinical features of various forms of diabetes make differential diagnosis challenging. Therefore, this study investigated the etiologic distribution and clinical characteristics of pediatric diabetes, including monogenic diabetes, who presented at a single tertiary center over the last 20 years.
This study included 276 consecutive patients with DM diagnosed before 18 years of age from January 2000 to December 2019 in Korea. Clinical features, biochemical findings, β-cell autoantibodies, and molecular characteristics were reviewed retrospectively.
Of the 276 patients, 206 patients (74.6%), 49 patients (17.8%), and 21 patients (7.6%) were diagnosed with type 1 DM, type 2 DM, and clinically suspected monogenic diabetes, respectively. Among 21 patients suspected to have monogenic diabetes, 8 patients had clinical maturity-onset diabetes of the young (MODY), and the remaining 13 patients had other types of monogenic diabetes. Among them, genetic etiologies were identified in 14 patients (5.1%) from 13 families, which included MODY 5, transient neonatal DM, developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome, Wolfram syndrome, Donohue syndrome, immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome, Fanconi-Bickel syndrome, Wolcott-Rallison syndrome, cystic fibrosis-related diabetes, and maternally inherited diabetes and deafness.
Genetically confirmed monogenic diabetes accounted for 5.1% of patients evaluated at a single tertiary center over 20-year period. Based on the findings for our sample, the frequency of mutations in the major genes of MODY appears to be low among pediatric patients in Korea. It is critical to identify the genetic cause of DM to provide appropriate therapeutic options and genetic counseling.
在欧洲，1.1-6.3%的糖尿病患者为单基因糖尿病。各种类型糖尿病的临床表现存在重叠，导致鉴别诊断具有挑战性。因此，本研究调查了过去 20 年在一家三级中心就诊的儿科糖尿病（包括单基因糖尿病）患者的病因分布和临床特征。
本研究纳入了 2000 年 1 月至 2019 年 12 月期间在韩国被诊断为 18 岁以下糖尿病的 276 例连续患者。回顾性分析了临床特征、生化检查、β细胞自身抗体和分子特征。
276 例患者中，206 例（74.6%）诊断为 1 型糖尿病，49 例（17.8%）和 21 例（7.6%）分别诊断为 2 型糖尿病和临床疑似单基因糖尿病。21 例疑似单基因糖尿病患者中，8 例为临床成年发病型青年糖尿病（MODY），其余 13 例为其他类型的单基因糖尿病。其中，13 个家系的 14 例（5.1%）患者的遗传病因得到了确定，包括 MODY5、暂时性新生儿糖尿病、发育迟缓、癫痫和新生儿糖尿病（DEND）综合征、Wolfram 综合征、Donohue 综合征、免疫失调、多内分泌腺病、肠病、X 连锁（IPEX）综合征、范可尼-比克尔综合征、Wolcott-Rallison 综合征、囊性纤维化相关糖尿病和母系遗传性糖尿病和耳聋。
在 20 年的时间里，在一家三级中心接受评估的患者中，经基因确认的单基因糖尿病占 5.1%。根据我们样本的研究结果，韩国儿科患者中 MODY 主要基因的突变频率似乎较低。确定糖尿病的遗传病因对于提供适当的治疗选择和遗传咨询至关重要。
