INS的Ala2Thr突变导致的10型青年成熟期糖尿病：病例报告

IF 4.2 3区医学 Q1 ENDOCRINOLOGY & METABOLISM

World Journal of Diabetes Pub Date : 2023-12-15 DOI:10.4239/wjd.v14.i12.1877

Huan Chen, Si-Jia Fei, Mingqun Deng, Xin-Da Chen, Wei-Hao Wang, Li-Xin Guo, Qi Pan

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引用次数: 0

摘要

背景由 c.4G>A (p.Ala2Thr) 基因突变引起的青少年成熟期糖尿病极为罕见，迄今为止仅有两例研究报道。在此，我们报告了另一例在表型上与以往病例不同的病例。病例摘要该患者尽管体重指数（BMI）正常，但在 27 岁时患上了糖尿病。她的胰岛功能部分受损，胰岛抗体检测呈阳性，需要大剂量的胰岛素。她的姐姐也携带 c.4G>A (p.Ala2Thr) 突变基因，她们的母亲也被强烈怀疑携带该突变基因。她的姐姐在 40 岁左右患上糖尿病，需要使用大剂量胰岛素，而母亲在 20 多岁时被诊断出糖尿病，并使用口服降糖药进行治疗；两人均不肥胖。结论 p.Ala2Thr 基因突变携带者通常发病较晚，体重指数正常。治疗方案因人而异。

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Maturity-onset diabetes of the young type 10 caused by an Ala2Thr mutation of INS: A case report

BACKGROUND Maturity-onset diabetes of the young 10 caused by the c.4G>A (p.Ala2Thr) mutation is extremely rare, with only two reported studies to date. Herein, we report another case that differs from previous cases in phenotype. CASE SUMMARY The proband developed diabetes at the age of 27 years, despite having a normal body mass index (BMI). She exhibited partial impairment of islet function, tested positive for islet antibodies, and required high doses of insulin. Her sister also carried the c.4G>A (p.Ala2Thr) mutation, and their mother was strongly suspected to carry the mutated gene. Her sister developed diabetes around 40 years of age and required high doses of insulin, while the mother was diagnosed in her 20s and was managed with oral hypoglycemic agents; neither of them were obese. CONCLUSION p.Ala2Thr mutation carriers often experience relatively later onset and normal BMI. Treatment regimens vary between individuals.

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来源期刊

World Journal of Diabetes ENDOCRINOLOGY & METABOLISM-

自引率

2.40%

发文量

909

期刊介绍： The WJD is a high-quality, peer reviewed, open-access journal. The primary task of WJD is to rapidly publish high-quality original articles, reviews, editorials, and case reports in the field of diabetes. In order to promote productive academic communication, the peer review process for the WJD is transparent; to this end, all published manuscripts are accompanied by the anonymized reviewers’ comments as well as the authors’ responses. The primary aims of the WJD are to improve diagnostic, therapeutic and preventive modalities and the skills of clinicians and to guide clinical practice in diabetes. Scope: Diabetes Complications, Experimental Diabetes Mellitus, Type 1 Diabetes Mellitus, Type 2 Diabetes Mellitus, Diabetes, Gestational, Diabetic Angiopathies, Diabetic Cardiomyopathies, Diabetic Coma, Diabetic Ketoacidosis, Diabetic Nephropathies, Diabetic Neuropathies, Donohue Syndrome, Fetal Macrosomia, and Prediabetic State.