用二肽基肽酶-4 抑制剂治疗一名母系遗传性糖尿病和耳聋患者的高血糖症:病例报告和两年随访。

IF 3.1 3区 医学 Q2 ENDOCRINOLOGY & METABOLISM Acta Diabetologica Pub Date : 2024-08-31 DOI:10.1007/s00592-024-02366-2
Lingjun Sun, Xianjiang Li, Honglei Li, Li Peng
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摘要

母系遗传性糖尿病和耳聋(MIDD)是一种线粒体疾病,具有多种特征,给早期诊断带来困难。我们报告了一例 32 岁女性糖尿病患者,她因体重减轻和血糖控制不佳而入院。她在 26 岁时曾患过妊娠糖尿病。通过口服葡萄糖耐量评估了胰腺功能。眼科检查发现结膜炎和屈光不正,听力测试正常。患者有糖尿病家族史。随后,我们对患者及其一级亲属进行了检测,证实他们的基因在 tRNA 的 3243 位发生了突变。经过两年的利拉利汀治疗,糖化血红蛋白和胰腺功能都有了一定程度的改善。虽然 MIDD 是一种罕见的糖尿病,但由于其独特的治疗方法和相关的并发症,对其进行诊断非常重要。
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Treating hyperglycaemia in a patient with maternally inherited diabetes and deafness with an inhibitor of dipeptidyl peptidase-4: a case report and two-year follow-up.

Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder with diverse characteristics, which make early diagnosis difficult. We report a case of 32-year-old woman with diabetes who was admitted due to weight loss and poor glycemic control. She had a history of gestational diabetes at age 26. Pancreatic function was evaluated by oral glucose tolerance. An ophthalmologic examination detected conjunctivitis and refractive errors and hearing tests were normal. The patient had a family of diabetes. Then we tested the patient and her first-degree relatives with a confirmed genetic mutation at position 3243 in the tRNA. After two years of treatment with linagliptin, both glycated hemoglobin and pancreatic function have shown improvement to some extent. Although MIDD is a rare form of diabetes, due to distinctive management and associated comorbidities it is important to diagnose.

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来源期刊
Acta Diabetologica
Acta Diabetologica 医学-内分泌学与代谢
CiteScore
7.30
自引率
2.60%
发文量
180
审稿时长
2 months
期刊介绍: Acta Diabetologica is a journal that publishes reports of experimental and clinical research on diabetes mellitus and related metabolic diseases. Original contributions on biochemical, physiological, pathophysiological and clinical aspects of research on diabetes and metabolic diseases are welcome. Reports are published in the form of original articles, short communications and letters to the editor. Invited reviews and editorials are also published. A Methodology forum, which publishes contributions on methodological aspects of diabetes in vivo and in vitro, is also available. The Editor-in-chief will be pleased to consider articles describing new techniques (e.g., new transplantation methods, metabolic models), of innovative importance in the field of diabetes/metabolism. Finally, workshop reports are also welcome in Acta Diabetologica.
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