成熟型糖尿病中一种新的BLK杂合突变（p.Met121lle）： 1例报告并文献复习。

IF 3.2 3区医学 Q2 ENDOCRINOLOGY & METABOLISM

Diabetic Medicine Pub Date : 2025-01-03 DOI:10.1111/dme.15491

Fenjuan Xu, Xiaoting Chen, Tingting Hu, Ruqiong Sun, Fangying Zhu, Xiaohong Wu

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引用次数: 0

摘要

成熟型糖尿病（MODY）是一种高度异质性的单基因疾病，由β细胞功能障碍引起。根据突变基因的不同，它被分为不同的类型，总共发现了16个与MODY相关的基因。然而，由于目前对单基因糖尿病缺乏了解，90%的MODY目前在临床实践中被误诊和忽视。本文报告1例糖尿病患者的临床资料。基因检测在患者及其父子中发现一种新的BLK杂合突变（c.363G> a）。他没有胰岛特异性自身抗体，饮食诱导的胰岛素反应降低。MODY个体的准确诊断对治疗非常重要。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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A novel BLK heterozygous mutation (p.Met121lle) in maturity-onset diabetes mellitus: A case report and literature review.

Maturity onset diabetes of the young (MODY) is a highly heterogeneous monogenic disease that occurs due to β-cell dysfunction. It is divided into different types depending on the gene mutated, and a total of 16 genes have been found to be associated with MODY. However, due to the current lack of understanding of monogenic diabetes, 90% of MODY is currently misdiagnosed and ignored in clinical practice. In this paper, we report the clinical data of a patient diagnosed with diabetes. Genetic testing revealed a novel BLK heterozygous mutation (c.363G>A) in the patient and in his father and son. He had no islet-specific autoantibodies and showed a reduced meal-induced response of insulin. Precise diagnosis of MODY individuals is important to the treatment.

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来源期刊

Diabetic Medicine 医学-内分泌学与代谢

CiteScore

7.20

自引率

5.70%

发文量

229

审稿时长

3-6 weeks

期刊介绍： Diabetic Medicine, the official journal of Diabetes UK, is published monthly simultaneously, in print and online editions. The journal publishes a range of key information on all clinical aspects of diabetes mellitus, ranging from human genetic studies through clinical physiology and trials to diabetes epidemiology. We do not publish original animal or cell culture studies unless they are part of a study of clinical diabetes involving humans. Categories of publication include research articles, reviews, editorials, commentaries, and correspondence. All material is peer-reviewed. We aim to disseminate knowledge about diabetes research with the goal of improving the management of people with diabetes. The journal therefore seeks to provide a forum for the exchange of ideas between clinicians and researchers worldwide. Topics covered are of importance to all healthcare professionals working with people with diabetes, whether in primary care or specialist services. Surplus generated from the sale of Diabetic Medicine is used by Diabetes UK to know diabetes better and fight diabetes more effectively on behalf of all people affected by and at risk of diabetes as well as their families and carers.”