Maturity-onset diabetes of the young type 3 complicated with type 5: A case report and literature review.

作者：Lijuan Li, Liuping Gong, Ailin Zheng, Qiaoling Yang, Danlan Pu, Ying Zhang · 发表于：PubMed · 年份：2024 · DOI：10.11817/j.issn.1672-7347.2024.230594 · 研究领域：Pancreatic function and diabetes、Diabetes and associated disorders、Diabetes Management and Research

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.