单基因糖尿病:Mody 亚型的全面概述和治疗管理。

IF 1.5 4区 医学 Q4 ENDOCRINOLOGY & METABOLISM
Manisha Sharma, Kajal Maurya, Anuj Nautiyal, Havagiray R Chitme
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引用次数: 0

摘要

背景:单基因糖尿病通常是由单基因突变引起的。这种疾病受环境和行为因素的影响很小,约占所有糖尿病病例的 1%至 5%:方法:新生儿糖尿病(NDM)和青年期成熟型糖尿病(MODY)是单基因糖尿病的主要病因,在病例中所占比例较大,而综合征糖尿病所占比例较小。MODY 是一组遗传性非自身免疫性糖尿病,相当常见。然而,尽管公众对它的认识不断提高,但它仍然经常被误诊。该病的特点是胰岛素抵抗、在年轻时(25 岁之前)患糖尿病、血糖水平轻度偏高、常染色体显性遗传以及保留天然胰岛素分泌:目前,已发现有 14 种不同的 MODY 亚型。每种亚型在发病频率、临床症状、糖尿病严重程度、相关并发症以及对药物干预的反应等方面都具有不同的特点。由于临床表现相似、缺乏认识以及基因检测费用高昂,区分 I 型糖尿病(T1D)和 II 型糖尿病(T2D)极具挑战性,导致这类糖尿病被误诊。因此,大量患者得不到适当的治疗。与 II 型和 I 型糖尿病相比,准确的诊断有助于采用新的治疗策略并加强治疗管理:本文简要概述了单基因糖尿病的临床亚型和特征。此外,本文还讨论了 MODY 的各种亚型,以及诊断、管理和治疗该病的过程。文章还讨论了在检测和治疗 MODY 时遇到的困难。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Monogenic Diabetes: A Comprehensive Overview and Therapeutic Management of Subtypes of Mody.

Background: Monogenic diabetes often occurs as a result of single-gene mutations. The illness is minimally affected by environmental and behavioral factors, and it constitutes around one to five percent of all cases of diabetes.

Methods: Newborn diabetes mellitus (NDM) and maturity-onset diabetes of the young (MODY) are the predominant causes of monogenic diabetes, accounting for a larger proportion of cases, while syndromic diabetes represents a smaller percentage. MODY, a group of inherited non-autoimmune diabetes mellitus disorders, is quite common. However, it remains frequently misdiagnosed despite increasing public awareness. The condition is characterized by insulin resistance, the development of diabetes at a young age (before 25 years), mild high blood sugar levels, inheritance in an autosomal dominant pattern, and the preservation of natural insulin production.

Results: Currently, there are 14 distinct subtypes of MODY that have been identified. Each subtype possesses distinct characteristics in terms of their frequency, clinical symptoms, severity of diabetes, related complications, and response to medicinal interventions. Due to the clinical similarities, lack of awareness, and high expense of genetic testing, distinguishing between type I (T1D) and type II diabetes mellitus (T2D) can be challenging, resulting in misdiagnosis of this type of diabetes. As a consequence, a significant number of individuals are being deprived of adequate medical attention. Accurate diagnosis enables the utilization of novel therapeutic strategies and enhances the management of therapy in comparison to type II and type I diabetes.

Conclusion: This article offers a concise overview of the clinical subtypes and characteristics of monogenic diabetes. Furthermore, this article discusses the various subtypes of MODY, as well as the process of diagnosing, managing, and treating the condition. It also addresses the difficulties encountered in detecting and treating MODY.

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来源期刊
Endocrine Research
Endocrine Research 医学-内分泌学与代谢
CiteScore
4.30
自引率
0.00%
发文量
10
审稿时长
>12 weeks
期刊介绍: This journal publishes original articles relating to endocrinology in the broadest context. Subjects of interest include: receptors and mechanism of action of hormones, methodological advances in the detection and measurement of hormones; structure and chemical properties of hormones. Invitations to submit Brief Reviews are issued to specific authors by the Editors.
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