Genetic analysis of neonatal diabetes mellitus and its influence on treatment outcome
10.3760/cma.j.issn.1000-6699.2011.06.011
- VernacularTitle:新生儿糖尿病致病基因分析及其对疗效的影响
- Author:
Xiuli CHEN
;
Shuixian SHEN
;
Feihong LUO
;
Miaoying ZHANG
;
Tang LI
;
Linqi CHEN
;
Min HU
;
Hong DU
;
Lingfeng CAO
;
Ruoqian CHENG
;
Zhuhui ZHAO
;
Dijing ZHI
- Publication Type:Journal Article
- Keywords:
Neonatal diabetes mellitus;
Glyburide;
KCNJ11 gene;
ABCC8 gene;
INS gene;
Mutation
- From:
Chinese Journal of Endocrinology and Metabolism
2011;27(6):488-491
- CountryChina
- Language:Chinese
-
Abstract:
Fourteen neonatal diabetes mellitus(NDM)patients were recruited. 9 patients were treated with glyburide and the other 5 with insulin. ABCC8, KCNJ11, and INS genes were sequenced in 6 of them. Gene mutations were found in 2, 1, and 1 cases in these genes, respectively. One case with 6q24 hypomethylation and another without known mutation were also found. 8 out of 9 patients treated with glyburide reached euglycemia(88.9%). The other 5 patients with insulin therapy either died or lost contact. The results suggest that glyburide therapy is effective in neonatal diabetes mellitus, while insulin therapy may contribute to poor compliance.
