以酮症酸中毒起病的青少年成年型糖尿病6型1例  

One case of adult type 6 diabetes mellitus with ketoacidosis in adolescents

作　　者：刘丽芳[1] 张芬[1] LIU Lifang;ZHANG Fen(Endocrinology Department,Ezhou Central Hospital,Hubei,Ezhou 436000,China)

机构地区：[1]湖北省鄂州市中心医院内分泌科,湖北鄂州436000

出　　处：《中国医药科学》2024年第12期195-198,共4页China Medicine And Pharmacy

摘　　要：目的探讨青少年以酮症酸中毒的成人型糖尿病6型(MODY6)的临床特征、发病机制、诊断、检查以及治疗。方法报道鄂州市中心医院收治急诊转内分泌科1例以酮症酸中毒起病的MODY6患者,基于血糖、血酮体、生化、血气分析等指标的检查结果,给予正规补液、降血糖、纠正酸中毒等治疗,并结合相关文献进行分析。结果该例患者酮症酸中毒纠正后改用胰岛素治疗,出院门诊随访,胰岛功能进一步恢复,停用胰岛素,单用二甲双胍治疗后血糖控制平稳。结论临床中起病的青少年患者,不论其有无糖尿病家族史,均应对其进行深入分型诊断以避免误诊、漏诊,这不仅可为遗传咨询提供重要的依据,还对患者及其家庭具有重要意义。Objective To explore the clinical characteristics,pathogenesis,diagnosis,examination,and treatment of maturity-onset diabetes of the young type 6(MODY6)with ketoacidosis initiation.Methods A case of MODY6 patient diagnosed with ketoacidosis initiation and transferred to the Endocrinology Department from the Emergency Department of Ezhou Central Hospital was reported.Based on the examination results of blood glucose,blood ketone body,biochemistry,and blood gas analysis,regular fluid replacement,blood glucose lowering,and correction of acidosis were given,and relevant literature was analyzed.Results After correcting ketoacidosis,the patient received insulin treatment and was discharged with outpatient follow-up.The results showed that pancreatic function further recovered,so insulin was discontinued,and blood glucose control remained stable after treatment with metformin alone.Conclusion Based on the analysis of this case,it can be concluded that for young patients with diabetes in clinical practice,regardless of whether they have a family history of diabetes,they should be deeply classified and diagnosed to avoid misdiagnosis and missed diagnosis,which not only provides an important basis for genetic counseling but also has important significance for patients and their families.

关 键 词：糖尿病酮症酸中毒 青少年 成人起病型糖尿病6型 基因突变 

分 类 号：R587.1[医药卫生—内分泌]