Exploring the genetic basis of childhood monogenic diabetes  

作　　者：Debmalya Sanyal 

机构地区：[1]Department of Endocrinology,KPC Medical College,Kolkata Pin 700032,West Bengal,India [2]School of Medicine,University of New Castle,Callaghan NSW 2308,Australia

出　　处：《World Journal of Diabetes》2024年第9期1829-1832,共4页世界糖尿病杂志（英文版）（电子版）

摘　　要：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.

关 键 词：Monogenic diabetes Genetic mutation Insulin resistance Beta-cell function Diabetes mellitus 

分 类 号：R587.1[医药卫生—内分泌]