青年人中的成年发病型糖尿病13型1例报道

A case report of maturity-onset diabetes of the young13

目的探讨青年人中的成年发病型糖尿病13型(MODY13)的临床表现、诊断方法及治疗方案。方法完善1例MODY13患者入院后的相关检查,同时行全外显子组检测。结果全外显子组检测结果显示,患者内向整流钾离子通道J家族11因子(KCNJ11)存在变异,调整治疗方案为服用格列美脲能有效改善糖尿病症状。结论MODY13患者的诊断需借助基因检测,确诊后根据患者年龄使用药物治疗并对饮食进行调控,能够有效控制血糖。

Objective To investigate the clinical manifestations,diagnosis and treatment of maturity-onset diabetes of the young13(MODY13).Methods One patient with MODY13 was examined after admission,and whole exome test was performed.Results Whole exome test showed that there was a mutation in potassium channel,inwardly rectifying subfamily J,member 11(KCNJ11).The treatment plan was adjusted.After glimepiride was administered,symptoms of diabetes were effectively improved.Conclusion The diagnosis of MODY13 requires genetic testing.After confirmation,medication and diet should be adjusted according to patients?age to control blood glucose.