对单一性糖尿病的精确诊断的使用:系统审查和专家意见
Rinki Murphy1,2, Kevin Colclough3, Toni I Pollin4
1Department of Medicine, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand. R.murphy@auckland.ac.nz.
Communications medicine
|October 4, 2023
概括
精确诊断可以改善单基因糖尿病的鉴定. 本综述综合了基因测试,变异解释和单一性糖尿病的临床管理方面的证据和专家建议.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 是一个遗传学.
- 精准医学是一门精准的医学.
背景情况:
- 单一性糖尿病的诊断不足,阻碍了精准医学方法.
- 系统审查评估单一性糖尿病的临床标准和遗传检测方法.
研究的目的:
- 系统地审查单一性糖尿病诊断和管理的证据.
- 为遗传测试,变异解释和临床实践提供专家建议.
主要方法:
- 在PubMed和Embase (1990-2022) 搜索了关于单基因糖尿病遗传测试的研究.
- 使用 QUADAS-2 评估偏差风险;总结了现有的指南和专家建议.
主要成果:
- 提供了四个关于谁应该进行测试的建议,以及五个关于如何测试单一性糖尿病的建议.
- 关于变异治愈和基因疾病有效性的总结指南;建议的基因名称超过MODY.
- 突出了关键的诊断步骤和知识差距.
结论:
- 综合证据和专家意见,用于单一性糖尿病的精确诊断.
- 旨在改善单一性糖尿病患者的识别和管理.
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