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一例报告中由子痫前期发现的遗传性出血性毛细血管扩张症

Osler-Weber-Rendu Disease Uncovered by Preeclampsia in a Case Report.

作者信息

Ouachaou Jamal, Mimouni Hamza, Maarad Mohammed, Mellagui Yassine, Oulad Amar Asmae, Bkiyar Houssam, Kamaoui Imane, Housni Brahim

机构信息

Intensive Care Unit, Mohammed VI University Hospital Center, Faculty of Medicine and Pharmacy of Oujda, Mohammed I University, Oujda, Morocco.

Radiology Department, Mohammed VI University Hospital Center, Faculty of Medicine and Pharmacy of Oujda, Mohammed I University, Oujda, Morocco.

出版信息

Case Rep Obstet Gynecol. 2020 Mar 3;2020:2746947. doi: 10.1155/2020/2746947. eCollection 2020.

Abstract

Osler-Weber-Rendu disease (OWRD), called hereditary hemorrhagic telangiectasia, is an uncommon genetic illness with the dominant autosomal transmission. It cannot be easily or quickly diagnosed because of both its infrequency and its various associated symptoms. As far as its symptoms are concerned, the patient experiences recurring epistaxis, mucocutaneous telangiectasia, and arteriovenous malformations that can lead to severe undesirable symptoms. In our case, we report a 32-year-old female that was diagnosed with postpartum preeclampsia and whose paraclinical examinations showed that she suffers from hereditary hemorrhagic telangiectasia disease. Management of OWRD includes systematic diagnosis of visceral arteriovenous malformations (AVMs) in regular intervals, measures to prevent complications, and symptomatic treatment.

摘要

奥斯勒-韦伯-伦杜病(OWRD),又称遗传性出血性毛细血管扩张症,是一种罕见的常染色体显性遗传疾病。由于其发病率低且伴有多种相关症状,因此难以快速准确诊断。就其症状而言,患者会反复鼻出血、出现黏膜皮肤毛细血管扩张以及动静脉畸形,这些可能导致严重的不良症状。在我们的病例中,我们报告了一名32岁女性,她被诊断为产后子痫前期,其辅助检查显示她患有遗传性出血性毛细血管扩张症。奥斯勒-韦伯-伦杜病的治疗包括定期系统诊断内脏动静脉畸形(AVM)、预防并发症的措施以及对症治疗。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/995e/7081023/16d75256ea26/CRIOG2020-2746947.001.jpg

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