伴有GLP-1R基因多态性（rs3765467）的糖尿病合并强直性肌营养不良症：一例在胰高血糖素样肽-1受体（rs3765467）处存在p.R131Q多态性的强直性肌营养不良症病例，其激动剂度拉糖肽产生显著效应。
Diabetes with GLP-1R polymorphism (rs3765467) accompanied by myotonic dystrophy: A case of myotonic dystrophy with p.R131Q polymorphism at the glucagon-like peptide-1 receptor (rs3765467) resulting in marked effects of its agonist, dulaglutide.
作者信息
Kato Kanako, Jojima Teruo, Kogai Takahiko, Tanuma Dai, Niitani Takafumi, Sakurai Shintaro, Iijima Toshie, Tomaru Takuya, Usui Isao, Aso Yoshimasa
机构信息
Department of Endocrinology and Metabolism, Dokkyo Medical University, 880 Kitakobayashi, Mibu, Shimotsuga, Tochigi, 321-0293, Japan; Department of Endocrinology and Metabolism, Sekishinkai Hospital, 2-37-20 Irumagawa Sayama, Saitama, 350-1305,Japan.
Department of Endocrinology and Metabolism, Dokkyo Medical University, 880 Kitakobayashi, Mibu, Shimotsuga, Tochigi, 321-0293, Japan.
出版信息
Am J Med Sci. 2025 Jan;369(1):126-130. doi: 10.1016/j.amjms.2024.06.030. Epub 2024 Jul 8.
A 47-year-old woman was diagnosed with myotonic dystrophy when admitted for traumatic subarachnoid hemorrhage. Her glycemic control was poor despite administration of pioglitazone, a PPARɤ agonist, and subcutaneous insulin infusion. However, adding a GLP-1 receptor (GLP-1R) agonist markedly improved blood glucose levels, resulting in eventual insulin withdrawal. Genetic testing revealed a heterozygous variant, p.R131Q, in the GLP1R (rs3765467), a common variant in Asia. This variant is known to be associated with increased endogenous insulin from beta cells in response to exogenous GLP-1 infusion. This is the first report and short review of a Japanese case of myotonic dystrophy accompanied by GLP-1R gene polymorphism.
一名47岁女性因创伤性蛛网膜下腔出血入院时被诊断为强直性肌营养不良。尽管使用了吡格列酮（一种PPARɤ激动剂）和皮下胰岛素输注，但其血糖控制仍不佳。然而，添加胰高血糖素样肽-1受体（GLP-1R）激动剂显著改善了血糖水平，最终停用了胰岛素。基因检测显示GLP1R（rs3765467）存在杂合变异p.R131Q，这是亚洲的一种常见变异。已知该变异与外源性GLP-1输注后β细胞内源性胰岛素增加有关。这是首例关于伴有GLP-1R基因多态性的日本强直性肌营养不良病例的报告及简短综述。
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