• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

葡萄糖激酶成熟型青少年糖尿病作为应激性高血糖的模仿者:一例报告

Glucokinase maturity-onset diabetes of the young as a mimicker of stress hyperglycemia: a case report.

作者信息

Nakasato Yoshitaka, Terashita Shintaro, Kusabiraki Shohei, Horie Sadashi, Wada Takuya, Nakabayashi Motokazu, Nakamura Megumi, Yorifuji Tohru

机构信息

Department of Pediatrics, Itoigawa General Hospital, Niigata, Japan.

Department of Pediatrics, Toyama University Hospital, Toyama, Japan.

出版信息

Clin Pediatr Endocrinol. 2023;32(1):72-75. doi: 10.1297/cpe.2022-0024. Epub 2022 Dec 3.

DOI:10.1297/cpe.2022-0024
PMID:36761491
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9887293/
Abstract

Febrile seizures are frequently accompanied by stress-induced hyperglycemia. Herein, we report the case of a 1.5-yr-old girl with hyperglycemia during febrile seizures who was subsequently diagnosed with glucokinase (GCK) maturity-onset diabetes of the young (MODY), considering its distinction from stress hyperglycemia. Following the development of febrile seizures owing to adenovirus infection, the patient presented a casual blood glucose level was 185 mg/dL. She had a multigenerational family history of diabetes and a hemoglobin A1c (HbA1c) level of 6.4%. Owing to the persistent glucose intolerance until the age of 5 years, genetic testing was performed, which revealed a heterozygous mutation in , and the patient was diagnosed with GCK-MODY. Precise diagnosis of GCK-MODY individuals is important to avoid administering unnecessary antidiabetic medications. Even during hyperglycemia under stress, multigenerational diabetes and mildly elevated HbA1c levels can suggest GCK-MODY.

摘要

热性惊厥常伴有应激性高血糖。在此,我们报告一例1.5岁女童,热性惊厥期间出现高血糖,考虑到其与应激性高血糖的区别,随后被诊断为葡萄糖激酶(GCK)成熟型青少年糖尿病(MODY)。因腺病毒感染发生热性惊厥后,患者随机血糖水平为185 mg/dL。她有糖尿病家族史且糖化血红蛋白(HbA1c)水平为6.4%。由于5岁前持续存在糖耐量异常,进行了基因检测,结果显示存在杂合突变,患者被诊断为GCK-MODY。准确诊断GCK-MODY个体对于避免使用不必要的抗糖尿病药物很重要。即使在应激性高血糖期间,多代糖尿病家族史和轻度升高的HbA1c水平也可能提示GCK-MODY。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/80e6/9887293/6f6c40726c5d/cpe-32-072-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/80e6/9887293/6f6c40726c5d/cpe-32-072-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/80e6/9887293/6f6c40726c5d/cpe-32-072-g001.jpg

相似文献

1
Glucokinase maturity-onset diabetes of the young as a mimicker of stress hyperglycemia: a case report.葡萄糖激酶成熟型青少年糖尿病作为应激性高血糖的模仿者:一例报告
Clin Pediatr Endocrinol. 2023;32(1):72-75. doi: 10.1297/cpe.2022-0024. Epub 2022 Dec 3.
2
Glucokinase-maturity onset diabetes mellitus in the young suggested by factory-calibrated glucose monitoring data: a case report.工厂校准的血糖监测数据提示的青年型葡萄糖激酶成熟型糖尿病:一例报告
Endocr J. 2022 Apr 28;69(4):473-477. doi: 10.1507/endocrj.EJ21-0526. Epub 2021 Nov 19.
3
Recognition and Management of Individuals With Hyperglycemia Because of a Heterozygous Glucokinase Mutation.因杂合子葡萄糖激酶突变导致的高血糖个体的识别与管理。
Diabetes Care. 2015 Jul;38(7):1383-92. doi: 10.2337/dc14-2769.
4
Heterozygous lys169Glu mutation of glucokinase gene in a Chinese family having glucokinase-maturity-onset diabetes of the young (GCK-MODY).一个患有葡萄糖激酶-青年发病型成年糖尿病(GCK-MODY)的中国家系中葡萄糖激酶基因的杂合赖氨酸169谷氨酸突变
J Postgrad Med. 2019 Oct-Dec;65(4):241-243. doi: 10.4103/jpgm.JPGM_166_19.
5
Identification of GCK-maturity-onset diabetes of the young in cases of neonatal hyperglycemia: A case series and review of clinical features.鉴定新生儿高血糖症中的 GCK- 年轻发病型糖尿病:病例系列及临床特征综述。
Pediatr Diabetes. 2021 Sep;22(6):876-881. doi: 10.1111/pedi.13239. Epub 2021 Jun 10.
6
Caudal regression syndrome in a fetus of a glucokinase-maturity-onset diabetes of the young pregnancy.年轻型糖尿病患者胎儿的尾部退化综合征。
Diabet Med. 2019 Feb;36(2):252-255. doi: 10.1111/dme.13844.
7
Phenotype Heterogeneity in Glucokinase-Maturity-Onset Diabetes of the Young (GCK-MODY) Patients.年轻的葡萄糖激酶成熟型糖尿病(GCK-MODY)患者的表型异质性
J Clin Res Pediatr Endocrinol. 2017 Sep 1;9(3):246-252. doi: 10.4274/jcrpe.4461. Epub 2017 Jun 30.
8
Molecular Changes in the Glucokinase Gene (GCK) Associated with the Diagnosis of Maturity Onset Diabetes of the Young (MODY) in Pregnant Women and Newborns.与孕妇及新生儿青年发病型成年糖尿病(MODY)诊断相关的葡萄糖激酶基因(GCK)的分子变化。
Curr Diabetes Rev. 2022;18(6):e060821195358. doi: 10.2174/1573399817666210806110633.
9
Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY).中国儿童葡萄糖激酶介导的青少年成年起病型糖尿病(GCK-MODY)的遗传和临床特征
BMC Pediatr. 2018 Mar 6;18(1):101. doi: 10.1186/s12887-018-1060-8.
10
Hyperglycemia in pediatric age: could it be maturity onset diabetes of the young? Case reports and review of the literature.儿童期高血糖症:会是青少年成熟型糖尿病吗?病例报告及文献综述
Ann Pediatr Endocrinol Metab. 2019 Dec;24(4):262-266. doi: 10.6065/apem.2019.24.4.262. Epub 2019 Dec 31.

引用本文的文献

1
"Insights into HbA1c: Key Role in Diabetes Screening and Associated Conditions" - A Comprehensive Review.《糖化血红蛋白洞察:糖尿病筛查及相关病症中的关键作用》——全面综述
J Pharm Bioallied Sci. 2025 Jun;17(Suppl 2):S1064-S1066. doi: 10.4103/jpbs.jpbs_1631_24. Epub 2025 Jun 18.
2
Response to the Letter to the Editor entitled "Glucokinase maturity-onset diabetes of the young as a mimicker of stress hyperglycemia: a case report" by Amanda Doherty-Kirby, Clin Pediatr Endocrinol 2023;32:72-75.对阿曼达·多尔蒂-柯比所写的致编辑信的回应,信名为《年轻型成人起病型糖尿病的葡萄糖激酶亚型作为应激性高血糖的模仿者:一例报告》,发表于《临床儿科内分泌学》2023年;第32卷:第72 - 75页。
Clin Pediatr Endocrinol. 2023;32(2):124. doi: 10.1297/cpe.2023-0001-2.
3

本文引用的文献

1
Approach to the Patient with MODY-Monogenic Diabetes.MODY-单基因糖尿病患者的处理方法。
J Clin Endocrinol Metab. 2021 Jan 1;106(1):237-250. doi: 10.1210/clinem/dgaa710.
2
Stress Hyperglycemia as Predictive Factor of Recurrence in Children with Febrile Seizures.应激性高血糖作为热性惊厥患儿复发的预测因素
Brain Sci. 2020 Feb 27;10(3):131. doi: 10.3390/brainsci10030131.
3
The Impact of Biomarker Screening and Cascade Genetic Testing on the Cost-Effectiveness of MODY Genetic Testing.生物标志物筛查和级联遗传检测对 MODY 基因检测成本效益的影响。
Letter to the Editor: Stress Hyperglycemia or Glucokinase Maturity Onset Diabetes of the Young (GCK-MODY) or Both?
致编辑的信:应激性高血糖还是年轻的葡萄糖激酶成熟型糖尿病(GCK-MODY),抑或是两者皆有?
Clin Pediatr Endocrinol. 2023;32(2):123. doi: 10.1297/cpe.2023-0001.
Diabetes Care. 2019 Dec;42(12):2247-2255. doi: 10.2337/dc19-0486. Epub 2019 Sep 26.
4
Non-Diabetic Hyperglycemia in the Pediatric Age: Why, How, and When to Treat?儿童期非糖尿病性高血糖症:为何、如何以及何时治疗?
Curr Diab Rep. 2018 Oct 29;18(12):140. doi: 10.1007/s11892-018-1115-0.
5
Insulin level and insulin sensitivity indices among healthy children and adolescents.健康儿童和青少年的胰岛素水平及胰岛素敏感性指标。
Arch Argent Pediatr. 2016 Aug 1;114(4):329-36. doi: 10.5546/aap.2016.eng.329. Epub 2016 Jun 30.
6
GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated.美国单基因糖尿病登记处中的GCK-MODY:常被误诊且接受不必要的治疗。
Acta Diabetol. 2016 Oct;53(5):703-8. doi: 10.1007/s00592-016-0859-8. Epub 2016 Apr 22.
7
Searching for Maturity-Onset Diabetes of the Young (MODY): When and What for?寻找青少年发病的成年型糖尿病(MODY):何时以及为何寻找?
Can J Diabetes. 2016 Oct;40(5):455-461. doi: 10.1016/j.jcjd.2015.12.005. Epub 2016 Apr 18.
8
The 0.1% of the population with glucokinase monogenic diabetes can be recognized by clinical characteristics in pregnancy: the Atlantic Diabetes in Pregnancy cohort.在妊娠期间,通过临床特征可以识别出患有葡萄糖激酶单基因糖尿病的人群,占总人口的 0.1%:大西洋妊娠糖尿病队列研究。
Diabetes Care. 2014;37(5):1230-6. doi: 10.2337/dc13-2248. Epub 2014 Feb 18.
9
Cost-effectiveness of MODY genetic testing: translating genomic advances into practical health applications.青少年发病的成年型糖尿病(MODY)基因检测的成本效益:将基因组学进展转化为实际健康应用
Diabetes Care. 2014;37(1):202-9. doi: 10.2337/dc13-0410. Epub 2013 Sep 11.
10
Use of HbA1c in the identification of patients with hyperglycaemia caused by a glucokinase mutation: observational case control studies.应用 HbA1c 识别葡萄糖激酶突变导致的高血糖症患者:观察性病例对照研究。
PLoS One. 2013 Jun 14;8(6):e65326. doi: 10.1371/journal.pone.0065326. Print 2013.