解放军医学院学报2025，Vol.46Issue(11)：1071-1076,6.DOI:10.12435/j.issn.2095-5227.25080101
1例ABCC8基因突变致青少年起病的成人型糖尿病12亚型家系报道并文献复习
A family pedigree with ABCC8 gene mutation causing MODY12 with adolescent onset:A case report and literature review
摘要
Abstract
Background Maturity-onset diabetes of the young(MODY)is a form of monogenic diabetes mellitus(DM).MODY12 is a rare subtype,with few cases reported in China to date.Objective To explore the clinical characteristics,genetic testing,and clinical management of MODY12,so as to enhance the understanding and management of this condition.Methods A retrospective analysis was conducted on the clinical data about a patient with MODY12 caused by mutation in the ATP-binding cassette subfamily C member 8(ABCC8)gene,supplemented by literature review.Results The patient was a 32-year-old female with BMI of 22.06 kg/m2.She was hospitalized due to pancreatitis,during which examinations revealed a fasting blood glucose level of 11.99 mmol/L,a random blood glucose level of 21.07 mmol/L,and a glycated hemoglobin(HbA1c)level of 9.3％.Her fasting insulin was 15.112 μU/mL,with a peak postprandial insulin level of 55.747 μU/mL.The fasting C-peptide was 0.49 ng/mL,and the peak postprandial C-peptide was 3.04 ng/mL.All diabetes-related autoantibodies were negative,leading to a suspicion of a special type of diabetes.Whole-exome sequencing of the patient's familial genomic DNA,verified by Sanger sequencing in relatives,revealed that both the patient and her father carried a heterozygous ABCC8(NM_000352.6)c.824G>A(p.Arg275Gln)mutation.Multiple bioinformatics tools predicted this variant to be pathogenic.Initially treated with basal insulin combined with miglitol,the patient was switched to low-dose sulfonylurea(glimepiride 1 mg/day)after genetic confirmation,achieving optimal glycemic control during follow-up.Conclusion For young-or middle-aged-onset diabetes patients with negative autoantibodies,preserved pancreatic function,and no significant insulin resistance,MODY should be considered.For confirmed MODY12 cases with genetic testing,low-dose sulfonylurea therapy can achieve excellent glycemic control while avoiding unnecessary long-term insulin injections.关键词
青少年起病的成人型糖尿病/ABCC8基因/单基因糖尿病/基因突变/磺脲类促泌剂Key words
maturity-onset diabetes of the young/ABCC8 gene/monogenic diabetes/gene mutation/sulfonylurea secretagogues分类
医药卫生引用本文复制引用
张冰,王先令,巴建明,吕朝晖..1例ABCC8基因突变致青少年起病的成人型糖尿病12亚型家系报道并文献复习[J].解放军医学院学报,2025,46(11):1071-1076,6.基金项目
联勤保障部队医学重点学科项目(51511222A) （51511222A）
