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如何在更常见的糖尿病亚型中识别青年起病的成年型糖尿病?

How can maturity-onset diabetes of the young be identified among more common diabetes subtypes?

机构信息

Diabetologic centre II. , Department of Medicine, Third Faculty of Medicine and Faculty Hospital Kralovske Vinohrady, Charles University, Šrobarova 50, 10034, Prague, Czech Republic.

Department of Medicine, Second Faculty of Medicine and Faculty Hospital Motol, Charles Univeristy, V Úvalu 84, 15006, Prague, Czech Republic.

出版信息

Wien Klin Wochenschr. 2019 Sep;131(17-18):435-441. doi: 10.1007/s00508-019-01543-6. Epub 2019 Sep 6.

DOI:10.1007/s00508-019-01543-6
PMID:31493099
Abstract

Maturity onset diabetes of the young (MODY) represents a diabetes type which has an enormous clinical impact. It significantly alters treatment, refines a patient's prognosis and enables early detection of diabetes in relatives. Nevertheless, when diabetes is manifested the vast majority of MODY patients are not correctly diagnosed, but mostly falsely included among patients with type 1 or type 2 diabetes, in many cases permanently. The aim of this article is to offer a simple and comprehensible guide for recognizing individuals with MODY hidden among adult patients with another type of long-term diabetes and in women with gestational diabetes.

摘要

青少年发病的成年型糖尿病(MODY)是一种具有巨大临床影响的糖尿病类型。它显著改变了治疗方法,改善了患者的预后,并使亲属中的糖尿病能够得到早期发现。然而,当糖尿病表现出来时,绝大多数 MODY 患者并未得到正确诊断,而是大多数情况下被错误地归入 1 型或 2 型糖尿病患者中,这种情况在许多情况下是永久性的。本文的目的是提供一个简单易懂的指南,帮助识别隐藏在成年患者中其他类型长期糖尿病和妊娠期糖尿病女性中的 MODY 患者。

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本文引用的文献

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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.
2
High Prevalence of Diabetes-Predisposing Variants in MODY Genes Among Danish Women With Gestational Diabetes Mellitus.丹麦妊娠期糖尿病女性中MODY基因糖尿病易感变异的高流行率。
J Endocr Soc. 2017 Apr 27;1(6):681-690. doi: 10.1210/js.2017-00040. eCollection 2017 Jun 1.
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2. Classification and Diagnosis of Diabetes: .
2. 糖尿病的分类和诊断: 。
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4
Use of oral antidiabetic drugs in the treatment of maturity-onset diabetes of the young: A mini review.口服抗糖尿病药物在青少年发病的成年型糖尿病治疗中的应用:小型综述。
Diabetes Metab Res Rev. 2018 Jan;34(1). doi: 10.1002/dmrr.2940. Epub 2017 Sep 29.
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Population-Based Assessment of a Biomarker-Based Screening Pathway to Aid Diagnosis of Monogenic Diabetes in Young-Onset Patients.基于人群的生物标志物筛查途径评估,以辅助诊断青年发病患者的单基因糖尿病。
Diabetes Care. 2017 Aug;40(8):1017-1025. doi: 10.2337/dc17-0224.
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NEUROD1-deficient diabetes (MODY6): Identification of the first cases in Japanese and the clinical features.神经调节蛋白 1 缺乏型糖尿病(MODY6):首例日本病例的鉴定及临床特征。
Pediatr Diabetes. 2018 Mar;19(2):236-242. doi: 10.1111/pedi.12553. Epub 2017 Jun 30.
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Neonatal Diabetes: Case Report of a 9-Week-Old Presenting Diabetic Ketoacidosis Due to an Activating Gene Mutation.新生儿糖尿病:一例9周大因激活基因突变导致糖尿病酮症酸中毒的病例报告。
J Investig Med High Impact Case Rep. 2017 Mar 24;5(1):2324709617698718. doi: 10.1177/2324709617698718. eCollection 2017 Jan-Mar.
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A review of maturity onset diabetes of the young (MODY) and challenges in the management of glucokinase-MODY.年轻起病的成年型糖尿病(MODY)的综述及葡萄糖激酶-MODY 的管理挑战。
Med J Aust. 2016 Nov 21;205(10):480-485. doi: 10.5694/mja16.00458.
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