糖尿病患者GLP-1R多态性(rs3765467)伴肌营养不良:一例胰高血糖素样肽-1 受体(rs3765467)p.R131Q 多态性导致其激动剂度拉鲁肽效果显著的肌营养不良患者。

Kanako Kato, Teruo Jojima, Takahiko Kogai, Dai Tanuma, Takafumi Niitani, Shintaro Sakurai, Toshie Iijima, Takuya Tomaru, Isao Usui, Yoshimasa Aso
{"title":"糖尿病患者GLP-1R多态性(rs3765467)伴肌营养不良:一例胰高血糖素样肽-1 受体(rs3765467)p.R131Q 多态性导致其激动剂度拉鲁肽效果显著的肌营养不良患者。","authors":"Kanako Kato, Teruo Jojima, Takahiko Kogai, Dai Tanuma, Takafumi Niitani, Shintaro Sakurai, Toshie Iijima, Takuya Tomaru, Isao Usui, Yoshimasa Aso","doi":"10.1016/j.amjms.2024.06.030","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":94223,"journal":{"name":"The American journal of the medical sciences","volume":" ","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"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.\",\"authors\":\"Kanako Kato, Teruo Jojima, Takahiko Kogai, Dai Tanuma, Takafumi Niitani, Shintaro Sakurai, Toshie Iijima, Takuya Tomaru, Isao Usui, Yoshimasa Aso\",\"doi\":\"10.1016/j.amjms.2024.06.030\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":94223,\"journal\":{\"name\":\"The American journal of the medical sciences\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-07-08\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"The American journal of the medical sciences\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1016/j.amjms.2024.06.030\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"The American journal of the medical sciences","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1016/j.amjms.2024.06.030","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

摘要

一名 47 岁的女性因外伤性蛛网膜下腔出血入院,被诊断为肌营养不良症。尽管她服用了吡格列酮这种 PPARɤ激动剂并皮下注射胰岛素,但血糖控制不佳。然而,加入 GLP-1 受体(GLP-1R)激动剂后,血糖水平明显改善,最终停用了胰岛素。基因检测发现,GLP1R(rs3765467)中存在一个杂合变体 p.R131Q,这在亚洲是一个常见变体。据了解,该变异与β细胞对外源性 GLP-1 输注的内源性胰岛素增加有关。这是日本首例伴有 GLP-1R 基因多态性的肌营养不良病例的报告和简短综述。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
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.

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.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
自引率
0.00%
发文量
0
期刊最新文献
The History of Medicine on Postage Stamps The Invention of the Cobalt 60 Machine for External Beam Radiation Therapy for Cancer. Urinary Dickkopf-3 as a Predictor for Postoperative Acute Kidney Injury in the Intensive Care Unit. Dyspnea, dysfunctional breathing disorders, and the Bayesian brain hypothesis. Cardiovascular Diseases-Related Mortality among Adults with Comorbid Chronic Obstructive Pulmonary Disease in the United States. Outcomes Following Acute Kidney Injury Requiring Dialysis: A Cohort Study.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1