Review of Monogenic Diabetes: Clinical Features and Precision Medicine in Genetic Forms of Diabetes.

IF 6.3 2区 医学 Q1 ENDOCRINOLOGY & METABOLISM
Diabetes technology & therapeutics Pub Date : 2025-09-01 Epub Date: 2025-04-03 DOI:10.1089/dia.2024.0602
Erin C Cobry, Andrea K Steck
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引用次数: 0

Abstract

Monogenic diabetes is a group of diseases that encompasses a growing number of genetic abnormalities affecting pancreatic function/development leading to glycemic dysregulation. This includes conditions that have historically been referred to as maturity onset diabetes of the young or MODY in addition to neonatal diabetes mellitus. While recognition of a genetic or inherited form of diabetes has been known for decades, advances in molecular genetic testing have resulted in identification of specific forms of monogenic diabetes. Despite this, these genetic forms of diabetes remain widely underreported. It is important to be able to identify genetic forms of diabetes as treatment, monitoring for microvascular and macrovascular complications, and overall management varies for the different forms of monogenic diabetes. Furthermore, the identification of a specific monogenic form of diabetes can significantly impact the person's quality of life and other family members, as well as health care costs. This article highlights the identification, treatment, and management for various forms of monogenic diabetes and addresses some unmet needs in caring for people with monogenic forms of diabetes.

单基因糖尿病综述:糖尿病遗传形式的临床特征和精准医学。
单基因糖尿病是一组疾病,包括越来越多的影响胰腺功能/发育的遗传异常,导致血糖失调。这包括历史上被称为年轻人的成熟型糖尿病或MODY以及新生儿糖尿病的条件。虽然对糖尿病的遗传或遗传形式的认识已经有几十年了,但分子基因检测的进步已经导致了对特定形式的单基因糖尿病的识别。尽管如此,这些遗传形式的糖尿病仍然被广泛低估。重要的是要能够识别糖尿病的遗传形式作为治疗,监测微血管和大血管并发症,并对不同形式的单基因糖尿病的整体管理有所不同。此外,确定一种特定的单基因型糖尿病可以显著影响患者的生活质量和其他家庭成员,以及医疗保健费用。本文重点介绍了各种形式的单基因糖尿病的识别、治疗和管理,并解决了照顾单基因糖尿病患者的一些未满足的需求。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Diabetes technology & therapeutics
Diabetes technology & therapeutics 医学-内分泌学与代谢
CiteScore
10.60
自引率
14.80%
发文量
145
审稿时长
3-8 weeks
期刊介绍: Diabetes Technology & Therapeutics is the only peer-reviewed journal providing healthcare professionals with information on new devices, drugs, drug delivery systems, and software for managing patients with diabetes. This leading international journal delivers practical information and comprehensive coverage of cutting-edge technologies and therapeutics in the field, and each issue highlights new pharmacological and device developments to optimize patient care.
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