Vendramini Marcio F, Gurgel Lucimary C, Moisés Regina S
Division of Endocrinology, Universidade Federal de São Paulo, SP, Brazil.
Arq Bras Endocrinol Metabol. 2010 Nov;54(8):682-4. doi: 10.1590/s0004-27302010000800003.
To report the long-term (30-month) effect of the switch from insulin to sulfonylurea in a patient carrying the p.G53D (c.158G>A) mutation in KCNJ11 gene.
A 29-year-old male patient was diagnosed with diabetes in the third month of life and after identification of a heterozygous p.G53D mutation in the KCNJ11 gene, the therapy was switched from insulin to sulfonylurea.
Long-term follow-up (30 months) showed that good metabolic control was maintained (HbA1c: 6.6%) and the glibenclamide dose could be reduced.
Long-term therapy with sulfonylureas in patients with neonatal diabetes due to mutation in the KCNJ11 gene is safe and promotes sustained improvement of glycemic control.
报告一名携带KCNJ11基因p.G53D（c.158G>A）突变的患者从胰岛素转换为磺脲类药物的长期（30个月）疗效。
一名29岁男性患者在出生后第三个月被诊断为糖尿病，在鉴定出KCNJ11基因杂合p.G53D突变后，治疗从胰岛素转换为磺脲类药物。
长期随访（30个月）显示，代谢控制良好（糖化血红蛋白：6.6%），格列本脲剂量可减少。
对于因KCNJ11基因突变导致的新生儿糖尿病患者，长期使用磺脲类药物治疗是安全的，并能促进血糖控制的持续改善。
