一个新的 KCNJ11 基因突变 c.685G>A:p.E229K：一例青年发病型糖尿病 13 报告。
A new mutation c.685G>A:p.E229K in the KCNJ11 gene: A case report of maturity-onset diabetes of the young13.
机构信息
Department of Endocrinology, Second People's Hospital of Hefei City, Hefei City, Anhui Province, China.
出版信息
Medicine (Baltimore). 2022 Sep 30;101(39):e30668. doi: 10.1097/MD.0000000000030668.
INTRODUCTION
Maturity-onset diabetes of the young (MODY) is an autosomal dominant monogenic diabetes. We report a pair of father and son diagnosed as MODY13 with a new mutation c.685G>A:p.E229K in the inwardly rectifying subfamily J, member 11 (KCNJ11) gene.
CASE PRESENTATION
A pair of father and son was examined after admission to the hospital and a whole exome test performed. Whole exome test showed that there was a mutation c.685G>A:p.E229K in the KCNJ11 gene encoding a potassium channel, KCNJ11.
CONCLUSIONS
The diagnosis of MODY13 requires genetic testing. After confirmation, medication and diet need to be adjusted to control blood glucose. The treatment plan was adjusted. After glimepiride was administered, symptoms of diabetes were effectively improved. According to our knowledge, this is the first reported mutation of c.685G>A:p.E229K in the KCNJ11 gene.
简介
青年发病的成年型糖尿病（MODY）是一种常染色体显性遗传的单基因糖尿病。我们报告了一对被诊断为 MODY13 的父子，他们在 inwardly rectifying subfamily J, member 11 (KCNJ11) 基因中存在新的突变 c.685G>A:p.E229K。
病例介绍
这对父子因住院接受检查，并进行了全外显子组测试。全外显子组测试显示，编码钾通道 KCNJ11 的 KCNJ11 基因存在突变 c.685G>A:p.E229K。
结论
MODY13 的诊断需要进行基因检测。确诊后，需要调整药物和饮食以控制血糖。调整了治疗方案。给予格列美脲后，糖尿病症状得到有效改善。据我们所知，这是首次报道 KCNJ11 基因 c.685G>A:p.E229K 突变。
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