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子宫内膜异位症
Endometriosis


Krina T. Zondervan ... 妇产科和儿科 • 2020.03.26
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子宫内膜异位症的定义是子宫外存在子宫内膜样组织1。但这一定义未能涵盖该病在症状、病理生物学和多系统方面的复杂性质(图1)2。子宫内膜异位症的诊断主要是通过手术直接观察——最好是通过腹腔镜。治疗包括手术切除病变和激素药物治疗,这些治疗通常有副作用,并且疗效不一。2008年美国子宫内膜异位症的医疗费用约为每名患病女性4,000美元,与其他慢性病(如2型糖尿病、克罗恩病和类风湿关节炎)的费用相当3。而治疗症状(包括慢性盆腔疼痛、痛经、深部性交疼痛、排尿困难、大便困难、疲劳和不孕)所需的费用要高得多,因为这些症状影响身体、心理、性和社交健康及生产力4-6

 

图1. 在整个生命过程中的子宫内膜异位症

虽然子宫内膜异位症的自然史尚未明确,但有新的证据提示,子宫内膜异位症有暴露和发展的关键时间窗口。因为与子宫内膜异位症相关的疼痛症状最常在青春期和青年期出现,所以子宫内膜异位症发生和发展的病理生理步骤必然在生命周期的更早期发生。目前已发现与子宫内膜异位症风险相关的基因位点;也有证据表明各生命阶段有特定的危险因素。在做出明确诊断之前,女性往往要忍受多年的症状,并且除了多系统合并症之外,对健康和生活质量的负面影响也会不断累积

 

虽然子宫内膜异位症对女性、她们的家庭和经济有显著影响,但公众和专业人士对子宫内膜异位症的认识仍然很少3,7。我们在本文中讨论了子宫内膜异位症的流行病学、病理生理学、发病机制,以及诊断和治疗,重点说明了理解子宫内膜异位症的遗传起源将如何指导我们制定更好的诊断和治疗方案。





作者信息

Krina T. Zondervan, D.Phil., Christian M. Becker, M.D., and Stacey A. Missmer, Sc.D.
From the Endometriosis Care and Research (CaRe) Centre, Nuffield Department of Women’s and Reproductive Health (K.T.Z., C.M.B.), and Wellcome Centre for Human Genetics (K.T.Z.), University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom; the Division of Adolescent and Young Adult Medicine, Department of Medicine, Boston Children’s Hospital and Harvard Medical School, Boston Center for Endometriosis, Boston Children’s Hospital and Brigham and Women’s Hospital, and the Department of Epidemiology, Harvard T.H. Chan School of Public Health — all in Boston (S.A.M.); and the Department of Obstetrics, Gynecology, and Reproductive Biology, College of Human Medicine, Michigan State University, Grand Rapids (S.A.M.). Address reprint requests to Dr. Zondervan at the Nuffield Department of Women’s and Reproductive Health, University of Oxford Women’s Centre, Level 3, John Radcliffe Hospital, Oxford OX3 9DU, United Kingdom, or at krina.zondervan@whr.ox.ac.uk.

 

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