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Case 6-2020: A 34-Year-Old Woman with Hyperglycemia.病例6 - 2020：一名患有高血糖的34岁女性。
N Engl J Med. 2020 Feb 20;382(8):745-753. doi: 10.1056/NEJMcpc1913475.
2
Monogenic glucokinase diabetes and pregnancy: a case study.单基因葡萄糖激酶糖尿病与妊娠：一项病例研究。
Wien Klin Wochenschr. 2015 Jun;127(11-12):494-6. doi: 10.1007/s00508-015-0795-6. Epub 2015 May 19.
3
Glucokinase deficit and birthweight: does maternal hyperglycemia always meet fetal needs?葡萄糖激酶缺陷与出生体重：母体高血糖是否总能满足胎儿的需求？
Acta Diabetol. 2018 Dec;55(12):1247-1250. doi: 10.1007/s00592-018-1198-8. Epub 2018 Aug 14.
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MODY diabetes and screening of gestational diabetes.青少年发病的成年型糖尿病与妊娠期糖尿病筛查
Ceska Gynekol. 2020 Winter;85(2):124-130.
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Metformin use and diabetic pregnancy-has its time come?二甲双胍的使用与糖尿病妊娠——时机已到？
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[Diagnosis and classification of diabetes mellitus].[糖尿病的诊断与分类]
Recenti Prog Med. 2010 Jul-Aug;101(7-8):274-6.
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Influence of maternal and fetal glucokinase mutations in gestational diabetes.母胎葡萄糖激酶突变对妊娠期糖尿病的影响。
Am J Obstet Gynecol. 2001 Jul;185(1):240-1. doi: 10.1067/mob.2001.113127.
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J Clin Pharm Ther. 2022 Feb;47(2):168-177. doi: 10.1111/jcpt.13503. Epub 2021 Aug 7.
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PLoS One. 2015 May 6;10(5):e0125712. doi: 10.1371/journal.pone.0125712. eCollection 2015.
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Metformin for Diabetes in Pregnancy: Are We Closer to Defining Its Role?二甲双胍用于妊娠期糖尿病：我们离明确其作用更近了吗？
JAMA. 2023 Dec 12;330(22):2167-2169. doi: 10.1001/jama.2023.18589.

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Pregnancy and Neonatal Outcomes in Maturity-Onset Diabetes of the Young: A Systematic Review.青年成年型糖尿病的妊娠及新生儿结局：一项系统评价
Int J Mol Sci. 2025 Jun 24;26(13):6057. doi: 10.3390/ijms26136057.
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Recognition of GCK Homozygote missense (His424Tyr) variant in a female patient with neonatal hyperglycemia.在一名患有新生儿高血糖症的女性患者中识别出葡萄糖激酶（GCK）纯合子错义（His424Tyr）变异体。
J Diabetes Metab Disord. 2024 Aug 1;23(2):2401-2405. doi: 10.1007/s40200-024-01480-w. eCollection 2024 Dec.
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N Engl J Med. 2024 Sep 5;391(9):858-863. doi: 10.1056/NEJMms2405389.
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Bringing precision medicine to the management of pregnancy in women with glucokinase-MODY: a study of diagnostic accuracy and feasibility of non-invasive prenatal testing.将精准医学应用于葡萄糖激酶-MODY 女性妊娠管理：一项关于无创性产前检测诊断准确性和可行性的研究。
Diabetologia. 2023 Nov;66(11):1997-2006. doi: 10.1007/s00125-023-05982-9. Epub 2023 Aug 31.
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GCK-MODY in pregnancy: A pregnant woman with diabetes and a small-for-gestational-age fetus.妊娠期的葡萄糖激酶基因（GCK）介导的成年发病型糖尿病（GCK-MODY）：一名患有糖尿病且胎儿小于孕周的孕妇。
Clin Case Rep. 2022 Dec 5;10(12):e6629. doi: 10.1002/ccr3.6629. eCollection 2022 Dec.
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Precision diabetes: Lessons learned from maturity-onset diabetes of the young (MODY).精准糖尿病：从青少年起病的成年型糖尿病（MODY）中吸取的经验教训。
J Diabetes Investig. 2022 Sep;13(9):1465-1471. doi: 10.1111/jdi.13860. Epub 2022 Jun 16.
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The Challenges of Treating Glucokinase MODY during Pregnancy: A Review of Maternal and Fetal Outcomes.妊娠期葡萄糖激酶调节性糖尿病（MODY）的治疗挑战：对母婴结局的回顾。
Int J Environ Res Public Health. 2022 May 14;19(10):5980. doi: 10.3390/ijerph19105980.
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Sequencing Cell-free Fetal DNA in Pregnant Women With GCK-MODY.对患有 GCK-MODY 的孕妇进行游离胎儿 DNA 测序。
J Clin Endocrinol Metab. 2021 Aug 18;106(9):2678-2689. doi: 10.1210/clinem/dgab265.
9
Genetic Loci and Physiologic Pathways Involved in Gestational Diabetes Mellitus Implicated Through Clustering.通过聚类分析鉴定与妊娠期糖尿病相关的遗传位点和生理途径。
Diabetes. 2021 Jan;70(1):268-281. doi: 10.2337/db20-0772. Epub 2020 Oct 13.
10
Defining Heterogeneity Among Women With Gestational Diabetes Mellitus.定义妊娠糖尿病女性中的异质性。
Diabetes. 2020 Oct;69(10):2064-2074. doi: 10.2337/dbi20-0004. Epub 2020 Aug 25.

本文引用的文献

1
Birthweight correlates with later metabolic abnormalities in Chinese patients with maturity-onset diabetes of the young type 2.出生体重与中国成年起病的 2 型青年型糖尿病患者的后期代谢异常相关。
Endocrine. 2019 Jul;65(1):53-60. doi: 10.1007/s12020-019-01929-6. Epub 2019 Apr 26.
2
Pregnancy outcome of Japanese patients with glucokinase-maturity-onset diabetes of the young.年轻起病的成人型糖尿病相关葡萄糖激酶基因突变日本患者的妊娠结局。
J Diabetes Investig. 2019 Nov;10(6):1586-1589. doi: 10.1111/jdi.13046. Epub 2019 Apr 23.
3
Latent Autoimmune Diabetes in Adults: A Review on Clinical Implications and Management.成人隐匿性自身免疫性糖尿病：临床意义与管理综述
Diabetes Metab J. 2018 Dec;42(6):451-464. doi: 10.4093/dmj.2018.0190.
4
14. Management of Diabetes in Pregnancy: .14. 妊娠期间糖尿病的管理： 。
Diabetes Care. 2019 Jan;42(Suppl 1):S165-S172. doi: 10.2337/dc19-S014.
5
2. Classification and Diagnosis of Diabetes: .2. 糖尿病的分类和诊断：
Diabetes Care. 2019 Jan;42(Suppl 1):S13-S28. doi: 10.2337/dc19-S002.
6
Management and pregnancy outcomes of women with GCK-MODY enrolled in the US Monogenic Diabetes Registry.美国单基因糖尿病注册研究中 GCK-MODY 患者的管理与妊娠结局。
Acta Diabetol. 2019 Apr;56(4):405-411. doi: 10.1007/s00592-018-1267-z. Epub 2018 Dec 11.
7
Cost-effectiveness Analysis of Routine Screening Using Massively Parallel Sequencing for Maturity-Onset Diabetes of the Young in a Pediatric Diabetes Cohort: Reduced Health System Costs and Improved Patient Quality of Life.基于大规模平行测序的青少年发病的成年型糖尿病常规筛查的成本效果分析：降低卫生系统成本和提高患者生活质量。
Diabetes Care. 2019 Jan;42(1):69-76. doi: 10.2337/dc18-0261. Epub 2018 Dec 6.
8
ACOG Practice Bulletin No. 201: Pregestational Diabetes Mellitus.美国妇产科医师学会临床实践公告第 201 号：孕前糖尿病。
Obstet Gynecol. 2018 Dec;132(6):e228-e248. doi: 10.1097/AOG.0000000000002960.
9
A UK nationwide prospective study of treatment change in MODY: genetic subtype and clinical characteristics predict optimal glycaemic control after discontinuing insulin and metformin.一项英国全国性前瞻性研究显示，MODY 患者在停用胰岛素和二甲双胍后，治疗改变与遗传亚型和临床特征相关，可预测最佳血糖控制。
Diabetologia. 2018 Dec;61(12):2520-2527. doi: 10.1007/s00125-018-4728-6. Epub 2018 Sep 18.
10
ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents.《2018年国际儿童和青少年糖尿病学会临床实践共识指南：儿童及青少年单基因糖尿病的诊断与管理》
Pediatr Diabetes. 2018 Oct;19 Suppl 27:47-63. doi: 10.1111/pedi.12772.

Case 6-2020: A 34-Year-Old Woman with Hyperglycemia.

作者信息

Udler Miriam S, Powe Camille E, Austin-Tse Christina A

机构信息

From the Departments of Medicine (M.S.U., C.E.P.) and Pathology (C.A.A.-T.), Massachusetts General Hospital, and the Departments of Medicine (M.S.U., C.E.P.) and Pathology (C.A.A.-T.), Harvard Medical School - both in Boston.

出版信息

N Engl J Med. 2020 Feb 20;382(8):745-753. doi: 10.1056/NEJMcpc1913475.

DOI:10.1056/NEJMcpc1913475
PMID:32074423
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8063267/
Abstract
摘要