探索儿童单基因糖尿病的遗传基础。

IF 4.2 3区 医学 Q1 ENDOCRINOLOGY & METABOLISM
Debmalya Sanyal
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引用次数: 0

摘要

单基因糖尿病是由一种甚至多种基因变异引起的,这些基因变异可能并不常见,但却会产生重大影响,并在幼年时引发糖尿病。单基因糖尿病影响着 1%至 5%的儿童,早期发现新生儿糖尿病和成熟期发病的青少年糖尿病并进行有针对性的基因治疗,可显著改善长期的健康和福祉。儿童期单基因糖尿病的病因主要是影响β细胞活性调节基因的基因变异。在极少数情况下,导致严重胰岛素抵抗的基因突变也会导致糖尿病的发生。被诊断出患有常见的特定类型单基因糖尿病的患者,只要能持续调节血糖水平,就可以从胰岛素治疗过渡到磺脲类药物治疗。科学家们已经成功地设计出了区分 1 型或 2 型糖尿病患者与单基因糖尿病患者的材料和方法。基因筛查的适当结果和解释对于确定预后、指导选择疗法和管理这些相互关联的疾病至关重要。本综述旨在设计一份全面的文献,总结儿童和青少年单基因糖尿病的遗传学见解,并总结其诊断和管理方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Exploring the genetic basis of childhood monogenic diabetes.

Monogenic diabetes is caused by one or even more genetic variations, which may be uncommon yet have a significant influence and cause diabetes at an early age. Monogenic diabetes affects 1% to 5% of children, and early detection and genetically focused treatment of neonatal diabetes and maturity-onset diabetes of the young can significantly improve long-term health and well-being. The etiology of monogenic diabetes in childhood is primarily attributed to genetic variations affecting the regulatory genes responsible for beta-cell activity. In rare instances, mutations leading to severe insulin resistance can also result in the development of diabetes. Individuals diagnosed with specific types of monogenic diabetes, which are commonly found, can transition from insulin therapy to sulfonylureas, provided they maintain consistent regulation of their blood glucose levels. Scientists have successfully devised materials and methodologies to distinguish individuals with type 1 or 2 diabetes from those more prone to monogenic diabetes. Genetic screening with appropriate findings and interpretations is essential to establish a prognosis and to guide the choice of therapies and management of these interrelated ailments. This review aims to design a comprehensive literature summarizing genetic insights into monogenetic diabetes in children and adolescents as well as summarizing their diagnosis and management.

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来源期刊
World Journal of Diabetes
World Journal of Diabetes ENDOCRINOLOGY & METABOLISM-
自引率
2.40%
发文量
909
期刊介绍: The WJD is a high-quality, peer reviewed, open-access journal. The primary task of WJD is to rapidly publish high-quality original articles, reviews, editorials, and case reports in the field of diabetes. In order to promote productive academic communication, the peer review process for the WJD is transparent; to this end, all published manuscripts are accompanied by the anonymized reviewers’ comments as well as the authors’ responses. The primary aims of the WJD are to improve diagnostic, therapeutic and preventive modalities and the skills of clinicians and to guide clinical practice in diabetes. Scope: Diabetes Complications, Experimental Diabetes Mellitus, Type 1 Diabetes Mellitus, Type 2 Diabetes Mellitus, Diabetes, Gestational, Diabetic Angiopathies, Diabetic Cardiomyopathies, Diabetic Coma, Diabetic Ketoacidosis, Diabetic Nephropathies, Diabetic Neuropathies, Donohue Syndrome, Fetal Macrosomia, and Prediabetic State.
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