医学
磺酰脲
基因
糖尿病
突变
发病机制
胰岛素
磺酰脲受体
表型
生物信息学
基因突变
机制(生物学)
遗传学
内科学
内分泌学
生物
格列本脲
哲学
认识论
出处
期刊:International Journal of Pediatrics
[Hindawi Publishing Corporation]
日期:2019-12-26
卷期号:46 (12): 869-873
标识
DOI:10.3760/cma.j.issn.1673-4408.2019.12.004
摘要
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.
Key words:
Neonatal diabetes; Gene mutation; Insulin; Sulfonylurea
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