Abstract：
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.
摘要：
一名47岁的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。尽管服用了吡格列酮，但她的血糖控制不佳，一种PPAR受体激动剂，和皮下胰岛素输注。然而,添加GLP-1受体（GLP-1R）激动剂显着改善血糖水平，最终导致胰岛素停药。基因检测揭示了一个杂合变异,p.R131Q,在GLP1R(rs3765467)中，亚洲常见的变种。已知该变体与响应外源性GLP-1输注的来自β细胞的内源性胰岛素增加有关。这是日本一例伴有GLP-1R基因多态性的强直性肌营养不良病例的首次报道和简短综述。
