Research progress on gene mutation of neonatal diabetes mellitus
10.3760/cma.j.issn.1673-4408.2019.12.004
- VernacularTitle: 新生儿糖尿病基因突变相关研究进展
- Author:
Xue ZHAO
1
;
Wei GU
Author Information
1. Department of Endocrinology, Children′s Hospital Affiliated to Nanjing Medical University, Nanjing 210008, China
- Publication Type:Review
- Keywords:
Neonatal diabetes;
Gene mutation;
Insulin;
Sulfonylurea
- From:
International Journal of Pediatrics
2019;46(12):869-873
- CountryChina
- Language:Chinese
-
Abstract:
The pathogenesis of neonatal diabetes mellitus (NDM) is mostly associated with mutations in genes related to the function or the number of islet β cells and pancreatic development and differentiation.Some of them are aberrant gene mutations related to chromosome methylation.With the amplification of pathogenic gene spectrum, new characteristics of clinical phenotypes have been discovered.In addition to insulin therapy, safe and effective sulfonylurea drugs can improve the neurodevelopmental disorders of some children with K-ATP channel related gene mutations by shutting down the K-ATP channel and releasing insulin.The review describes the recent research on the mechanism of NDM gene mutations and summarizes its clinical features to provide new ideas for treatment.
