中国年轻成年人表型 2 型糖尿病中青少年起病的成年型糖尿病的患病率：一项全国性、多中心、横断面调查。
Prevalence of maturity-onset diabetes of the young in phenotypic type 2 diabetes in young adults: a nationwide, multi-center, cross-sectional survey in China.
机构信息
National Clinical Research Center for Metabolic Diseases, Key Laboratory of Diabetes Immunology (Central South University), Ministry of Education, and Department of Metabolism and Endocrinology, The Second Xiangya Hospital of Central South University, Changsha, Hunan 410011, China.
College of Life Sciences, The University of Chinese Academy of Sciences, Beijing 100049, China.
出版信息
Chin Med J (Engl). 2023 Jan 5;136(1):56-64. doi: 10.1097/CM9.0000000000002321.
BACKGROUND
Maturity-onset diabetes of the young (MODY) is the most common monogenic diabetes. The aim of this study was to assess the prevalence of MODY in phenotypic type 2 diabetes (T2DM) among Chinese young adults.
METHODS
From April 2015 to October 2017, this cross-sectional study involved 2429 consecutive patients from 46 hospitals in China, newly diagnosed between 15 years and 45 years, with T2DM phenotype and negative for standardized glutamic acid decarboxylase antibody at the core laboratory. Sequencing using a custom monogenic diabetes gene panel was performed, and variants of 14 MODY genes were interpreted as per current guidelines.
RESULTS
The survey determined 18 patients having genetic variants causing MODY (6 HNF1A , 5 GCK , 3 HNF4A , 2 INS , 1 PDX1 , and 1 PAX4 ). The prevalence of MODY was 0.74% (95% confidence interval [CI]: 0.40-1.08%). The clinical characteristics of MODY patients were not specific, 72.2% (13/18) of them were diagnosed after 35 years, 47.1% (8/17) had metabolic syndrome, and only 38.9% (7/18) had a family history of diabetes. No significant difference in manifestations except for hemoglobin A1c levels was found between MODY and non-MODY patients.
CONCLUSION
The prevalence of MODY in young adults with phenotypic T2DM was 0.74%, among which HNF1A -, GCK -, and HNF4A -MODY were the most common subtypes. Clinical features played a limited role in the recognition of MODY.
背景
青年发病的成年型糖尿病（MODY）是最常见的单基因糖尿病。本研究旨在评估中国年轻成年人表型 2 型糖尿病（T2DM）中 MODY 的患病率。
方法
本横断面研究于 2015 年 4 月至 2017 年 10 月，纳入中国 46 家医院新诊断的 2429 例年龄在 15 岁至 45 岁之间、具有 T2DM 表型且核心实验室谷氨酸脱羧酶抗体阴性的患者。使用定制的单基因糖尿病基因panel 进行测序，根据现行指南对 14 个 MODY 基因的变异进行解释。
结果
该研究发现 18 例患者存在导致 MODY 的遗传变异（6 例 HNF1A、5 例 GCK、3 例 HNF4A、2 例 INS、1 例 PDX1 和 1 例 PAX4）。MODY 的患病率为 0.74%（95%置信区间：0.40-1.08%）。MODY 患者的临床特征不具有特异性，72.2%（13/18）的患者在 35 岁后被诊断，47.1%（8/17）有代谢综合征，仅有 38.9%（7/18）有糖尿病家族史。MODY 患者与非 MODY 患者之间除了血红蛋白 A1c 水平外，其他表现均无显著差异。
结论
表型 T2DM 年轻成年人中 MODY 的患病率为 0.74%，其中 HNF1A-、GCK-和 HNF4A-MODY 是最常见的亚型。临床特征在识别 MODY 方面作用有限。
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