[1]元沙沙,马燕,吴南楠,等.妊娠妇女中青少年发病的成年型糖尿病2型的筛查研究[J].国际内分泌代谢杂志,2021,41(05):434-438.[doi:10.3760/cma.j.cn121383-20210716-07046]
　Yuan Shasha,Ma Yan,Wu Nannan,et al.Screening for maturity-onset diabetes of the young type 2 in pregnant women[J].International Journal of Endocrinology and Metabolism,2021,41(05):434-438.[doi:10.3760/cma.j.cn121383-20210716-07046]
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妊娠妇女中青少年发病的成年型糖尿病2型的筛查研究()
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《国际内分泌代谢杂志》[ISSN:1673-4157/CN:12-1383/R]

卷:
41
期数:
2021年05期
页码:
434-438
栏目:
“特殊类型糖尿病”专题
出版日期:
2021-09-30

文章信息/Info

Title:
Screening for maturity-onset diabetes of the young type 2 in pregnant women
作者:
元沙沙; 马燕; 吴南楠; 柯静; 赵冬
首都医科大学附属北京潞河医院内分泌代谢与免疫性疾病中心、北京市糖尿病防治重点实验室 101149
Author(s):
Yuan Shasha;  Ma Yan;  Wu Nannan;  Ke Jing;  Zhao Dong.
Beijing Key Laboratory of Diabetes Research and Care, Center for Endocrine Metabolism and Immune Diseases, Lu He Hospital, Capital Medical University, Beijing 101149, China
关键词:
青少年发病的成年型糖尿病2型;  葡萄糖激酶;  妊娠
Keywords:
Maturity-onset adult diabetes mellitus of the young 2;  Glucokinase;  Pregnancy
DOI:
10.3760/cma.j.cn121383-20210716-07046
摘要:
目的 在妊娠妇女中筛查葡萄糖激酶(GCK)基因突变引起的青少年发病的成年型糖尿病2型(MODY2),了解MODY2的诊断和治疗现状。方法 回顾性分析2016年1月至2018年12月在北京潞河医院规律产检、未使用胰岛素的妊娠妇女,以妊娠后至少3次空腹静脉血糖均≥5.5 mmol/L、至少1次血清甘油三酯≤1.43 mmol/L、75 g口服葡萄糖耐量试验(OGTT)2 h血糖增量<4.6 mmol/L为筛查条件,对满足条件受试者进行GCK基因序列测定。结果 共纳入2 956例受试者,符合GCK基因筛查条件者24例,检测出1例GCK基因突变(c.G784A, p.G262R, NM_033507, NP_000153),该患者前后2次妊娠期间接受胰岛素治疗,一胎为巨大儿未携带该突变位点,二胎新生儿携带该突变位点,出生体重正常。结论 妊娠期间采用静脉血糖联合甘油三酯的筛查方法,有助于识别MODY2患者,明确诊断MODY2有助于指导患者进行精准血糖调控,避免过度治疗引起的新生儿不良结局发生。
Abstract:
Objective Pregnant women were screened for maturity-onset diabetes of the young 2(MODY2)caused by GCK gene mutations, to understand the status of diagnosis and treatment of MODY2.Methods Retrospective analysis was performed in pregnant women who received regular obstetric examinations in Beijing Luhe Hospital from January 2016 to December 2018. Fasting blood glucose≥5.5 mmol/L for at least three times after pregnancy, and serum triglyceride at least once ≤1.43 mmol/L and 75 g oral glucose tolerance test(OGTT)2 h blood glucose increment <4.6 mmol/L were the screening condition. GCK gene sequence was determined in the subjects meeting the requirements. Results A total of 2 956 subjects were included, 24 of whom met the criteria of GCK gene screening, and 1 case of GCK gene mutation(C.G784A, P.G262R, NM_033507, NP_000153)was detected. The patient received insulin treatment during the two pregnancies, and the first fetus was macrosomia without carrying the pathogenic sites, the second fetus carrying the mutation site had normal birth weight. Conclusion The screening method of fasting blood glucose combined with triglyceride during pregnancy is helpful for identification of MODY2. Accurate diagnosis is helpful to regulate blood glucose and avoid adverse neonatal outcomes caused by excessive treatment.

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备注/Memo

备注/Memo:
基金项目:通州区科技计划项目-内分泌与免疫转化医学研究(KJ2019CX013)
通信作者:赵冬,Email:zhaodong@ccmu.edu.cn
更新日期/Last Update: 2021-10-10