{"title":"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。","authors":"Fenjuan Xu, Xiaoting Chen, Tingting Hu, Ruqiong Sun, Fangying Zhu, Xiaohong Wu","doi":"10.1111/dme.15491","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":11251,"journal":{"name":"Diabetic Medicine","volume":" ","pages":"e15491"},"PeriodicalIF":3.2000,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A novel BLK heterozygous mutation (p.Met121lle) in maturity-onset diabetes mellitus: A case report and literature review.\",\"authors\":\"Fenjuan Xu, Xiaoting Chen, Tingting Hu, Ruqiong Sun, Fangying Zhu, Xiaohong Wu\",\"doi\":\"10.1111/dme.15491\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":11251,\"journal\":{\"name\":\"Diabetic Medicine\",\"volume\":\" \",\"pages\":\"e15491\"},\"PeriodicalIF\":3.2000,\"publicationDate\":\"2025-01-03\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Diabetic Medicine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1111/dme.15491\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Diabetic Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1111/dme.15491","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
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.
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.”
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