为什么我们要担心诊断单基因糖尿病?

Antonio Jesús Blanco Carrasco
{"title":"为什么我们要担心诊断单基因糖尿病?","authors":"Antonio Jesús Blanco Carrasco","doi":"10.1016/j.avdiab.2013.07.001","DOIUrl":null,"url":null,"abstract":"<div><p>Monogenic forms represent a rare form (about 1%) of diabetes. Most cases are clinically mislabeled as type<!--> <!-->1 or type<!--> <!-->2 diabetes mellitus. Although they constitute a very heterogeneous group, their most common forms, such as neonatal diabetes or those called MODY (Maturity Onset Diabetes of the Young) share common characteristics as the absence of signs of autoimmunity or insulin resistance and the persistence of insulin secretion in over time. Reasons for the low rate of diagnosis may be a low awareness about the importance of diagnosis by health professionals and the need to perform tests in specific genetic units. In recent years there has been significant progress in the description of new forms and validation of clinical serum markers that facilitate their diagnosis.</p></div>","PeriodicalId":100152,"journal":{"name":"Avances en Diabetología","volume":"29 5","pages":"Pages 126-132"},"PeriodicalIF":0.0000,"publicationDate":"2013-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.avdiab.2013.07.001","citationCount":"1","resultStr":"{\"title\":\"¿Por qué debemos preocuparnos de diagnosticar una diabetes monogénica?\",\"authors\":\"Antonio Jesús Blanco Carrasco\",\"doi\":\"10.1016/j.avdiab.2013.07.001\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>Monogenic forms represent a rare form (about 1%) of diabetes. Most cases are clinically mislabeled as type<!--> <!-->1 or type<!--> <!-->2 diabetes mellitus. Although they constitute a very heterogeneous group, their most common forms, such as neonatal diabetes or those called MODY (Maturity Onset Diabetes of the Young) share common characteristics as the absence of signs of autoimmunity or insulin resistance and the persistence of insulin secretion in over time. Reasons for the low rate of diagnosis may be a low awareness about the importance of diagnosis by health professionals and the need to perform tests in specific genetic units. In recent years there has been significant progress in the description of new forms and validation of clinical serum markers that facilitate their diagnosis.</p></div>\",\"PeriodicalId\":100152,\"journal\":{\"name\":\"Avances en Diabetología\",\"volume\":\"29 5\",\"pages\":\"Pages 126-132\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2013-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1016/j.avdiab.2013.07.001\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Avances en Diabetología\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1134323013000720\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Avances en Diabetología","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1134323013000720","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 1

摘要

单基因型糖尿病是一种罕见的形式(约1%)。大多数病例在临床上被误诊为1型或2型糖尿病。尽管它们构成了一个非常不同的群体,但它们最常见的形式,如新生儿糖尿病或所谓的MODY(青年成熟期糖尿病),具有共同的特征,即缺乏自身免疫或胰岛素抵抗的迹象,并且胰岛素分泌持续一段时间。诊出率低的原因可能是卫生专业人员对诊断的重要性认识不高,以及需要对特定的基因单位进行检测。近年来,在描述新形式和验证促进其诊断的临床血清标志物方面取得了重大进展。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
¿Por qué debemos preocuparnos de diagnosticar una diabetes monogénica?

Monogenic forms represent a rare form (about 1%) of diabetes. Most cases are clinically mislabeled as type 1 or type 2 diabetes mellitus. Although they constitute a very heterogeneous group, their most common forms, such as neonatal diabetes or those called MODY (Maturity Onset Diabetes of the Young) share common characteristics as the absence of signs of autoimmunity or insulin resistance and the persistence of insulin secretion in over time. Reasons for the low rate of diagnosis may be a low awareness about the importance of diagnosis by health professionals and the need to perform tests in specific genetic units. In recent years there has been significant progress in the description of new forms and validation of clinical serum markers that facilitate their diagnosis.

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
×
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
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
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 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信