新发TBC1D4基因突变致青少年糖尿病一例并文献复习

A Case of Adolescent-Onset Diabetes Caused by a Novel TBC1D4 Gene Mutation and Literature Review

摘要: 本研究报道了一例14岁女性患者因新发TBC1D4基因截断突变(c.2199-113A>G)导致的青少年糖尿病病例，总结患者临床资料，并结合相关文献进行回顾性分析。患者因发现血糖升高2年入院，曾被诊断为糖尿病并接受治疗，但血糖控制不佳。入院后完善检查发现胰岛素抵抗为主，糖耐量受损，且存在高尿酸血症和双侧卵巢多囊性改变。基因外显子测序发现TBC1D4基因的第11内含子存在未见文献报道的截断突变。结合患者临床症状、实验室检查、家族史及基因检测结果，最终诊断为单基因胰岛素抵抗综合征。给予患者生活方式干预、二甲双胍和利拉鲁肽联合治疗后，血糖控制良好，体重减轻。本病例强调了基因检测在单基因糖尿病诊断中的重要性，以及针对胰岛素抵抗的运动等生活方式干预的有效性，为精准医疗提供了机会。

Abstract: This study presents the case of a 14-year-old female diagnosed with adolescent-onset diabetes resulting from a novel truncating mutation in the TBC1D4 gene (c.2199-113A>G). The patient’s clinical data are summarized and retrospectively analyzed alongside a review of relevant literature. She was admitted to the hospital due to hyperglycemia first detected two years prior. Although she had previously been diagnosed with diabetes and received treatment, her blood glucose levels remained poorly controlled. Comprehensive evaluation upon admission revealed predominant insulin resistance, impaired glucose tolerance, hyperuricemia, and bilateral polycystic ovarian morphology. Genetic exon sequencing identified an unreported truncating mutation in the 11th intron of the TBC1D4 gene. Based on clinical manifestations, laboratory findings, family history, and genetic test results, a diagnosis of monogenic insulin resistance syndrome was established. Following a combined therapeutic regimen of lifestyle modification, metformin, and liraglutide, the patient achieved improved glycemic control and weight reduction. This case underscores the importance of genetic testing in the diagnosis of monogenic diabetes and highlights the effectiveness of lifestyle interventions such as exercise for Insulin Resistance, offering opportunities for precision medicine.