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常染色体显性遗传多囊肾病是否会增加主动脉瘤或夹层的风险:基于系统评价和荟萃分析的观点。

Does autosomal dominant polycystic kidney disease increase the risk of aortic aneurysm or dissection: a point of view based on a systematic review and meta-analysis.

机构信息

Faculty of Medicine, University of Lisbon, Lisbon, Portugal.

Vascular Surgery, Heart and Vessels Department, Hospital Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal.

出版信息

J Nephrol. 2022 Jul;35(6):1585-1593. doi: 10.1007/s40620-022-01309-w. Epub 2022 Mar 26.

DOI:10.1007/s40620-022-01309-w
PMID:35347648
Abstract

Autosomal Dominant Polycystic Kidney Disease (ADPKD) has several renal and extra-renal manifestations. Studies have reported a higher incidence of aortic aneurysms (AAs)/aortic dissections (ADs) in these patients, and we believe ADPKD should be considered as a risk factor for AA/AD. In order to support our opinion we conducted a systematic review and meta-analysis analyzing the risk of AA/AD in ADPKD patients.We searched MEDLINE, CENTRAL, PsycInfo, Web of Science Core Collection and OpenGrey for observational studies reporting frequency estimates of AA/AD in ADPKD patients compared with controls. We analyzed the odds ratio (OR) of the existence of an AA/AD in patients with ADPKD compared to controls. We also analyzed the odds of having an AA in patients with ADPKD compared to controls, the odds of having an AD in patients with ADPKD compared to controls, differences among subtypes of AA or AD, differences according to age, gender and different study designs.Seven observational studies were included. ADPKD was associated with a higher risk of AA or AD as compared with a population without the disease (OR 4.33; 95% CI 2.69; 6.97, p < 0.001); higher risk of AA (OR 4.18; 95% CI 2.36; 7.40, p < 0.001) and higher risk of AD (OR 9.08; 95% CI 3.11; 26.55, p < 0.001).Our point of view, suggesting the inclusion of aortic aneurysms and aortic dissection in the potential complications of ADPKD, was supported by our systematic review and meta-analysis showing that ADPKD was associated with a significant risk of having/developing an AA/AD. However, the risk of bias of included studies was considered high and these results should be interpreted cautiously. This association should be considered in clinical practice, although further studies are needed to consolidate these findings.

摘要

常染色体显性多囊肾病(ADPKD)有多种肾脏和肾脏外表现。研究报告称,这些患者的主动脉瘤(AA)/主动脉夹层(AD)发病率较高,我们认为 ADPKD 应被视为 AA/AD 的一个危险因素。为了支持我们的观点,我们进行了一项系统评价和荟萃分析,分析了 ADPKD 患者发生 AA/AD 的风险。我们检索了 MEDLINE、CENTRAL、PsycInfo、Web of Science 核心合集和 OpenGrey,以查找比较 ADPKD 患者与对照组 AA/AD 发生率的观察性研究。我们分析了与对照组相比,ADPKD 患者中存在 AA/AD 的比值比(OR)。我们还分析了与对照组相比,ADPKD 患者发生 AA 的可能性、ADPKD 患者发生 AD 的可能性、AA 或 AD 亚组之间的差异、根据年龄、性别和不同研究设计的差异。纳入了 7 项观察性研究。与无该疾病的人群相比,ADPKD 与 AA 或 AD 的风险增加相关(OR 4.33;95%CI 2.69;6.97,p<0.001);AA 的风险增加(OR 4.18;95%CI 2.36;7.40,p<0.001)和 AD 的风险增加(OR 9.08;95%CI 3.11;26.55,p<0.001)。我们的观点是,建议将主动脉瘤和主动脉夹层纳入 ADPKD 的潜在并发症,我们的系统评价和荟萃分析支持了这一观点,结果表明 ADPKD 与发生/发展 AA/AD 的显著风险相关。然而,纳入研究的偏倚风险较高,应谨慎解释这些结果。尽管需要进一步研究来证实这些发现,但这一关联应在临床实践中得到考虑。

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Gen Thorac Cardiovasc Surg. 2024 May;72(5):293-304. doi: 10.1007/s11748-024-02017-x. Epub 2024 Mar 14.
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Double Heterozygous Pathogenic Variants in the and Genes in a 5-Year-Old Patient with Thoracic Aortic Aneurysm and Polycystic Kidney Disease.5 岁患儿同时患有胸主动脉瘤和多囊肾病,携带 和 基因的双杂合致病性变异。
Genes (Basel). 2023 Oct 24;14(11):1983. doi: 10.3390/genes14111983.