1.Genetic analysis of neonatal diabetes mellitus and its influence on treatment outcome
Xiuli CHEN ; Shuixian SHEN ; Feihong LUO ; Miaoying ZHANG ; Tang LI ; Linqi CHEN ; Min HU ; Hong DU ; Lingfeng CAO ; Ruoqian CHENG ; Zhuhui ZHAO ; Dijing ZHI
Chinese Journal of Endocrinology and Metabolism 2011;27(6):488-491
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.
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