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探索儿童单基因糖尿病的遗传基础。

Exploring the genetic basis of childhood monogenic diabetes.

作者信息

Sanyal Debmalya

机构信息

Department of Endocrinology, KPC Medical College, Kolkata Pin 700032, West Bengal, India.

Department of Endocrinology, NH RTIICS, Kolkata Pin 700099, West Bengal, India.

出版信息

World J Diabetes. 2024 Sep 15;15(9):1829-1832. doi: 10.4239/wjd.v15.i9.1829.

Abstract

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.

摘要

单基因糖尿病是由一个或多个基因变异引起的,这些变异可能并不常见,但具有重大影响,并在早年导致糖尿病。单基因糖尿病影响1%至5%的儿童,对新生儿糖尿病和青少年成年发病型糖尿病的早期检测和以基因为重点的治疗可显著改善长期健康状况。儿童单基因糖尿病的病因主要归因于影响负责β细胞活性的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突变也会导致糖尿病的发生。被诊断患有常见特定类型单基因糖尿病的个体,如果能维持血糖水平的持续稳定调节,可从胰岛素治疗过渡到磺脲类药物治疗。科学家们已经成功设计出材料和方法,以区分1型或2型糖尿病患者与更易患单基因糖尿病的人群。进行有适当结果和解释的基因筛查对于确定预后以及指导这些相关疾病的治疗选择和管理至关重要。本综述旨在设计一份全面的文献,总结对儿童和青少年单基因糖尿病的遗传学见解以及总结其诊断和管理方法。

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