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青少年起病的成人型糖尿病3型合并5型1例并文献复习

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报告1例青少年起病的成人型糖尿病(maturity-onset diabetes of the young,MODY)3型(MODY3)合并5型(MODY5)患者的临床特征、诊断及治疗,并复习相关文献.利用MODY(1～14型)基因外显子二代测序和Sanger测序验证MODY患者及其母亲,结合临床表型及基因检测结果,该患者诊断为MODY3合并MODY5,给予胰岛素及利格列汀治疗,观察血糖变化.临床医师应提高对MODY临床表型的认识,对于合并先天性胰腺和肾脏发育不全、高密度脂蛋白胆固醇升高,无自发酮症、胰岛素分泌缺陷,胰岛自身抗体阴性,无明显胰岛素抵抗,非肥胖的青少年糖尿病患者应行基因检测以筛查MODY,精准诊断并予以个体化治疗将有助于血糖水平达标及改善生活质量,并指导优化生育.
Maturity-onset diabetes of the young type 3 complicated with type 5:A case report and literature review
This report describes a case of maturity-onset diabetes of the young(MODY)type 3(MODY3)complicated with type 5(MODY5),including the patient's clinical features,diagnosis,and treatment,and reviews relevant literature.Using next-generation sequencing of MODY(types 1-14)gene exons and Sanger sequencing for verification,the patient and her mother were assessed.Based on the clinical phenotype and genetic test results,the patient was diagnosed as MODY3 combined with MODY5.Treatment included insulin and linagliptin,with monitoring of blood glucose changes.Clinicians should enhance their understanding of MODY clinical phenotypes.In adolescents with diabetes who have congenital pancreatic and renal developmental defects,elevated high-density lipoprotein cholesterol,no spontaneous ketosis,insulin secretion defects,negative pancreatic autoantibodies,no significant insulin resistance,and who are not obese,gene testing should be conducted to screen for MODY.Accurate diagnosis and personalized treatment can aid in achieving glycemic control,improving quality of life,and optimizing reproductive planning.

maturity-onset diabetes of the younghepatocyte nuclear factor 1αhepatocyte nuclear factor 1βrenal cystspancreatic developmental defects

李丽娟、龚柳平、郑爱琳、杨巧玲、蒲丹岚、张颖

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重庆市渝北区人民医院内分泌科,重庆 401120

青少年起病的成人型糖尿病 肝细胞核因子1α 肝细胞核因子1β 肾囊肿 胰腺发育不全

重庆市自然科学基金山东第一医科大学教育发展基金会内分泌系统科研基金

CSTB2022NSCQ-MSX1271023002

2024

10.11817/j.issn.1672-7347.2024.230594

中南大学学报(医学版)
中南大学

中南大学学报(医学版)

CSTPCD北大核心
影响因子：1.459
ISSN：1672-7347
年,卷(期)：2024.49(6)