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常染色体显性遗传性多囊肾病、无症状多发性巨大冠状动脉瘤与腹主动脉瘤的关联:一例报告

Association of autosomal dominant polycystic kidney disease, asymptomatic multiple giant coronary arteries aneurysms and abdominal aortic aneurysm: a case report.

作者信息

Hindawy Abdullah Rida, Daboul Baraa, Hanafi Ibrahem, Albitar Sami

机构信息

Division of Nephrology, Department of Internal Medicine, Aleppo University Hospital, Faculty of Medicine, University of Aleppo, Aleppo, Syria.

Department of Internal Medicine, Faculty of Medicine, University of Aleppo, Aleppo, Syria.

出版信息

Oxf Med Case Reports. 2020 Dec 28;2020(12):omaa122. doi: 10.1093/omcr/omaa122. eCollection 2020 Dec.

DOI:10.1093/omcr/omaa122
PMID:34136265
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8202766/
Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is a systemic disease characterized by the formation of multiple cysts in several organs. The formation of aneurysms accompanying this disease is being increasingly reported in the literature, and mutations in PKD-1 and PKD-2 are suspected in this etiology. Although the association between ADPKD and multiple coronary arteries aneurysms (CAA) was reported several times, we are presenting a case with the combination of ADPKD, multiple giant CAAs, abdominal aortic aneurysms and a suspected intracranial aneurysm, which has never been reported. The asymptomatic presentation of these multiple aneurysms might support the recommendations for further diagnostic investigations in these patients.

摘要

常染色体显性多囊肾病(ADPKD)是一种全身性疾病,其特征是多个器官中形成多个囊肿。文献中越来越多地报道了伴随这种疾病出现的动脉瘤形成情况,并且怀疑PKD - 1和PKD - 2的突变与这种病因有关。尽管ADPKD与多发性冠状动脉瘤(CAA)之间的关联已被多次报道,但我们现报告一例同时合并ADPKD、多发性巨大CAA、腹主动脉瘤以及疑似颅内动脉瘤的病例,此前从未有过此类报道。这些多发性动脉瘤的无症状表现可能支持对这些患者进行进一步诊断性检查的建议。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce7f/8202766/ba5a6919bf61/omaa122f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce7f/8202766/f7f32accaf48/omaa122f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce7f/8202766/ba5a6919bf61/omaa122f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce7f/8202766/f7f32accaf48/omaa122f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce7f/8202766/ba5a6919bf61/omaa122f2.jpg

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本文引用的文献

1
Screening for Intracranial Aneurysms in Patients with Autosomal Dominant Polycystic Kidney Disease.常染色体显性多囊肾病患者颅内动脉瘤的筛查
Clin J Am Soc Nephrol. 2019 Aug 7;14(8):1242-1244. doi: 10.2215/CJN.02100219. Epub 2019 Jun 19.
2
Coronary artery aneurysm combined with other multiple aneurysms at multiple locations: A case report and systematic review.冠状动脉瘤合并其他多处多发动脉瘤:一例报告及系统综述
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Autosomal dominant polycystic kidney disease and the heart and brain.
常染色体显性多囊肾病与心脑
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4
Autosomal dominant polycystic kidney disease and coronary artery dissection or aneurysm: a systematic review.常染色体显性多囊肾病与冠状动脉夹层或动脉瘤:一项系统综述
Ren Fail. 2016;38(4):493-502. doi: 10.3109/0886022X.2016.1144209. Epub 2016 Feb 18.
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The genetics of vascular complications in autosomal dominant polycystic kidney disease (ADPKD).常染色体显性多囊肾病(ADPKD)血管并发症的遗传学
Curr Hypertens Rev. 2013 Feb;9(1):37-43. doi: 10.2174/1573402111309010007.
8
Unified criteria for ultrasonographic diagnosis of ADPKD.常染色体显性多囊肾病超声诊断的统一标准。
J Am Soc Nephrol. 2009 Jan;20(1):205-12. doi: 10.1681/ASN.2008050507. Epub 2008 Oct 22.