Exploring the genetic basis of childhood monogenic diabetes

被引:0
|
作者
Sanyal, Debmalya [1 ,2 ,3 ]
机构
[1] KPC Med Coll, Dept Endocrinol, 1F Raja Subodh Chandra Mullick Rd, Kolkata 700032, West Bengal, India
[2] NH RTIICS, Dept Endocrinol, Kolkata 700099, West Bengal, India
[3] Univ New Castle, Sch Med, Callaghan, NSW 2308, Australia
关键词
Monogenic diabetes; Genetic mutation; Insulin resistance; Beta-cell function; Diabetes mellitus; PRECISION; POPULATION;
D O I
10.4239/wjd.v15.i9.1829
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
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.
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页数:5
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