机会之窗:筛查GCK单基因糖尿病在产前糖尿病诊所

IF 0.5 Q4 ENDOCRINOLOGY & METABOLISM
Aarthi Surendran, A. Brackenridge, S. White
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引用次数: 0

摘要

单基因糖尿病(MODY)是一种罕见的遗传性糖尿病,其中葡萄糖激酶(GCK)突变是最常见的形式之一。正确的诊断很重要,特别是在怀孕期间,因为治疗应该相应地量身定制。在我们的产前糖尿病诊所,我们根据欧洲最佳实践指南(2008年)和新的NHS英格兰标准(2021年)审核了那些符合一年遗传筛查条件的患者,以及那些确定有突变的患者。我们的审计记录显示,使用新标准确定的符合条件的妇女人数显著下降(2.6%对5.2%),非洲裔妇女人数显著减少(15.2%对29.2%)。审计突出指出,需要提高保健专业人员的认识,并在产前糖尿病服务部门内实施明确的途径,以便利查明妇女进行遗传筛查和随后的适当管理。它还强调了对新筛查标准的临床表现进行持续评估的重要性。版权所有©2022 John Wiley & Sons。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Window of opportunity: screening for GCK monogenic diabetes in the antenatal diabetes clinic
Monogenic diabetes (MODY) is a rare, inherited form of diabetes, of which glucokinase (GCK) mutation is one of the most common forms. Correct diagnosis is important, particularly during pregnancy, as treatment should be tailored accordingly. In our antenatal diabetes clinic, we audited those eligible for genetic screening over a one‐year period as per European Best Practice guidelines (2008) and new NHS England criteria (2021), as well as those identified with the mutation. Our audit recorded a significant drop in the number of eligible women identified using new criteria (2.6% vs 5.2%), with a notable reduction in women of African ethnicity (15.2% vs 29.2%). The audit highlighted the need for increased health care professional awareness and the implementation of clear pathways within the antenatal diabetes service to facilitate identification of women for genetic screening and subsequent appropriate management. It also underlined the importance of ongoing assessment of the clinical performance of the new screening criteria. Copyright © 2022 John Wiley & Sons.
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来源期刊
Practical Diabetes
Practical Diabetes ENDOCRINOLOGY & METABOLISM-
CiteScore
1.10
自引率
16.70%
发文量
54
期刊介绍: Practical Diabetes concerns itself with all aspects of the worldwide clinical science and practice of diabetes medicine. The journal recognises the importance of each member of the healthcare team in the delivery of diabetes care, and reflects this diversity of professional interest in its editorial contents. The Editors welcome original papers, case reports, practice points, audit articles and letters on any aspect of clinical diabetes care from any part of the world. The journal also publishes commissioned leaders, review articles and educational and training series, for which an honorarium normally is paid. All articles submitted to Practical Diabetes are independently peer reviewed. They must not have been published or be under submission currently elsewhere. Enquiries from prospective authors are welcomed and the Editors will be pleased, if asked, to advise on preparation and submission of articles. All articles and enquiries should be directed to the Editors at the publishing address below. The journal is published nine times a year, and currently the average waiting time for acceptance of articles is eight weeks, and for subsequent publication sixteen weeks. Practical Diabetes is independent of any commercial or vested interest.
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