Zhou Guang-Hong, Tao Min, Wang Qing, Chen Xing-Yu, Liu Jing, Zhang Li-Li
Department of Endocrinology, The Second Affiliated Hospital, Chongqing Medical University, Chongqing 400010, China.
World J Diabetes. 2023 Jul 15;14(7):1137-1145. doi: 10.4239/wjd.v14.i7.1137.
Maturity-onset diabetes of the young (MODY) is a monogenic genetic disease often clinically misdiagnosed as type 1 or type 2 diabetes. MODY type 9 (MODY9) is a rare subtype caused by mutations in the gene. Currently, there are limited reports on -MODY, and its clinical characteristics and treatments are still unclear. In this report, we described a Chinese patient with high autoimmune antibodies, hyperglycemia and a site mutation in the gene.
A 42-year-old obese woman suffered diabetes ketoacidosis after consuming substantial amounts of beverages. She had never had diabetes before, and no one in her family had it. However, her autoantibody tested positive, and she managed her blood glucose within the normal range for 6 mo through lifestyle inter-ventions. Later, her blood glucose gradually increased. Next-generation sequencing and Sanger sequencing were performed on her family. The results revealed that she and her mother had a heterozygous mutation in the gene (c.314G>A, p.R105H), but her daughter did not. The patient is currently taking liraglutide (1.8 mg/d), and her blood glucose levels are under control. Previous cases were retrieved from PubMed to investigate the relationship between gene mutations and diabetes.
We reported the first case of a gene heterozygous mutation site (c.314G>A, p.R105H), which does not appear pathogenic to MODY9 but may facilitate the progression of latent autoimmune diabetes in adults.
青年发病的成年型糖尿病（MODY）是一种单基因遗传病，临床上常被误诊为1型或2型糖尿病。MODY9型是由该基因的突变引起的罕见亚型。目前，关于-MODY的报道有限，其临床特征和治疗方法仍不明确。在本报告中，我们描述了一名具有高自身抗体、高血糖且该基因存在位点突变的中国患者。
一名42岁肥胖女性在大量饮用饮料后发生糖尿病酮症酸中毒。她既往从未患过糖尿病，其家族中也无人患糖尿病。然而，她的自身抗体检测呈阳性，通过生活方式干预，其血糖在6个月内维持在正常范围内。后来，她的血糖逐渐升高。对其家族进行了二代测序和桑格测序。结果显示，她和她的母亲在该基因上存在杂合突变（c.314G>A，p.R105H），但她的女儿没有。该患者目前正在服用利拉鲁肽（1.8mg/d），血糖水平得到控制。从PubMed检索既往病例以研究该基因突变与糖尿病之间的关系。
我们报道了首例该基因杂合突变位点（c.314G>A，p.R105H），该突变对MODY9似乎无致病性，但可能促进成人隐匿性自身免疫性糖尿病的进展。
