f this study is to estimate the diagnostic yield of genetic testing in adults with CKD. Methods: Cohort studies that report diagnostic yield of genetic testing in adults with CKD published in PubMed or Embase between January 1, 2005, and December 31, 2023, were included. The Joanna Briggs Institute critical appraisal tool for prevalence studies was used to assess bias. Duplicate independent data extraction and a meta-analysis of proportions using generalized linear mixed models was completed. Results: We included 60 studies with 10,107 adults with CKD who underwent genetic testing. We found a diagnostic yield of 40% (95% CI; 33 to 46); yield varied by CKD subtype with the highest yield of 62% (95% CI; 57 to 68) in cystic kidney disease. Positive family history and presence of extra-kidney features were associated with higher diagnostic yield. Reclassification of the before testing diagnosis following a positive genetic testing result occurred in 17% of the solved cohort. Six studies showed the clinical benefits of genetic tests including cascade testing for family members and treatment changes. Conclusions: Overall, we show that genetic testing is informative in a high proportion of clinically selected adults with CKD. The study was limited by heterogeneity in reporting, testing technologies, and cohort characteristics. Trial Registration: PROSPERO (CRD42023386880). Copyright © 2024 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Society of Nephrology...

中文翻译：

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基因检测在成人慢性肾病患者中的效用：系统评价和荟萃分析


本研究旨在评估成人 CKD 基因检测的诊断率。方法：纳入了 2005 年 1 月 1 日至 2023 年 12 月 31 日期间在 PubMed 或 Embase 上发表的报告成人 CKD 基因检测诊断率的队列研究。乔安娜布里格斯研究所流行率研究的关键评估工具被用来评估偏差。使用广义线性混合模型完成了重复的独立数据提取和比例荟萃分析。结果：我们纳入了 60 项研究，涉及 10,107 名接受过基因检测的 CKD 成年人。我们发现诊断率为 40%（95% CI；33 至 46）；不同 CKD 亚型的产率各不相同，囊性肾病的产率最高为 62%（95% CI；57 至 68）。阳性家族史和肾外特征的存在与较高的诊断率相关。在已解决的队列中，17% 的人在基因检测结果呈阳性后对检测前的诊断进行了重新分类。六项研究显示了基因测试的临床益处，包括对家庭成员的级联测试和治疗改变。结论：总体而言，我们表明基因检测对于临床选择的大部分 CKD 成人患者来说可以提供丰富的信息。该研究受到报告、测试技术和队列特征的异质性的限制。试用注册：PROSPERO (CRD42023386880)。版权所有 © 2024 作者。由 Wolters Kluwer Health, Inc. 代表美国肾脏病学会出版...