• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

Prenatal discovery of hereditary hemorrhagic telangiectasia-associated hepatic arteriovenous malformations by multimodal ultrasound and whole-exome sequencing: a rare case description and literature analysis.

作者信息

Liu Xiaotian, Xiang Guishuang, Wen Qin, Long Yitian, Wen Yanting

机构信息

Department of Ultrasound, Chengdu Fifth People's Hospital/The Affiliated Fifth People's Hospital of Chengdu University of Traditional Chinese Medicine, Chengdu, China.

Department of Radiology, Chengdu Fifth People's Hospital/The Affiliated Fifth People's Hospital of Chengdu University of Traditional Chinese Medicine, Chengdu, China.

出版信息

Quant Imaging Med Surg. 2025 Sep 1;15(9):8678-8683. doi: 10.21037/qims-2025-645. Epub 2025 Aug 8.

DOI:10.21037/qims-2025-645
PMID:40893545
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12397690/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8fec/12397690/49fb18659227/qims-15-09-8678-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8fec/12397690/49fb18659227/qims-15-09-8678-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8fec/12397690/49fb18659227/qims-15-09-8678-f1.jpg

相似文献

1
Prenatal discovery of hereditary hemorrhagic telangiectasia-associated hepatic arteriovenous malformations by multimodal ultrasound and whole-exome sequencing: a rare case description and literature analysis.通过多模态超声和全外显子组测序产前发现遗传性出血性毛细血管扩张症相关的肝动静脉畸形：1例罕见病例描述及文献分析
Quant Imaging Med Surg. 2025 Sep 1;15(9):8678-8683. doi: 10.21037/qims-2025-645. Epub 2025 Aug 8.
2
Current Practice: Rationale for Screening Children with Hereditary Hemorrhagic Telangiectasia for Brain Vascular Malformations.现状：遗传性出血性毛细血管扩张症患儿脑血管畸形筛查的理由。
AJNR Am J Neuroradiol. 2024 Sep 9;45(9):1177-1184. doi: 10.3174/ajnr.A8195.
3
PIEZO1 Overexpression in Hereditary Hemorrhagic Telangiectasia Arteriovenous Malformations.遗传性出血性毛细血管扩张症动静脉畸形中PIEZO1的过表达
Circulation. 2025 Jul 16. doi: 10.1161/CIRCULATIONAHA.124.073630.
4
When Cholangitis Reveals Liver Involvement in Hereditary Hemorrhagic Telangiectasia: A Case Report.胆管炎揭示遗传性出血性毛细血管扩张症的肝脏受累：一例报告
Cureus. 2025 May 30;17(5):e85069. doi: 10.7759/cureus.85069. eCollection 2025 May.
5
Defective Flow-Migration Coupling Causes Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia.缺陷的血流迁移偶联导致遗传性出血性毛细血管扩张症的动静脉畸形。
Circulation. 2021 Sep 7;144(10):805-822. doi: 10.1161/CIRCULATIONAHA.120.053047. Epub 2021 Jun 29.
6
Spinal arteriovenous fistulae in patients with hereditary hemorrhagic telangiectasia: A case report and systematic review of the literature.遗传性出血性毛细血管扩张症患者的脊髓动静脉瘘：一例报告及文献系统综述
Interv Neuroradiol. 2016 Jun;22(3):354-61. doi: 10.1177/1591019915623560. Epub 2016 Jan 27.
7
A missed case of hereditary hemorrhagic telangiectasia: A case report.一例遗传性出血性毛细血管扩张症漏诊病例：病例报告
SAGE Open Med Case Rep. 2022 Dec 12;10:2050313X221124060. doi: 10.1177/2050313X221124060. eCollection 2022.
8
Epistaxis due to hereditary hemorrhagic telangiectasia: A case report and literature review.遗传性出血性毛细血管扩张症所致鼻出血：一例报告及文献复习
J Int Med Res. 2025 Sep;53(9):3000605251374630. doi: 10.1177/03000605251374630. Epub 2025 Sep 8.
9
Probiotics and infective endocarditis in patients with hereditary hemorrhagic telangiectasia: a clinical case and a review of the literature.遗传性出血性毛细血管扩张症患者的益生菌与感染性心内膜炎：1例临床病例及文献综述
BMC Infect Dis. 2018 Feb 1;18(1):65. doi: 10.1186/s12879-018-2956-5.
10
Brain arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia: clinical presentation and anatomical distribution.遗传性出血性毛细血管扩张症患者的脑动静脉畸形：临床表现和解剖分布。
Pediatr Neurol. 2013 Dec;49(6):445-50. doi: 10.1016/j.pediatrneurol.2013.07.021. Epub 2013 Sep 27.

本文引用的文献

1
Somatic mutations in arteriovenous malformations in hereditary hemorrhagic telangiectasia support a bi-allelic two-hit mutation mechanism of pathogenesis.遗传性出血性毛细血管扩张症中动静脉畸形的体细胞突变支持双等位基因双打击突变发病机制。
Am J Hum Genet. 2025 Apr 3;112(4):963. doi: 10.1016/j.ajhg.2025.03.007. Epub 2025 Mar 15.
2
Capillary Malformation-arteriovenous Malformation Type 2: A Case Report and Review.毛细血管-动静脉畸形 2 型：病例报告与文献复习。
Acta Derm Venereol. 2022 Mar 8;102:adv00662. doi: 10.2340/actadv.v102.1126.
3
Hereditary Hemorrhagic Telangiectasia: The Convergence of Genotype, Phenotype, and Imaging in Modern Diagnosis and Management of a Multisystem Disease.
遗传性出血性毛细血管扩张症：基因表型与影像学在多系统疾病现代诊断与治疗中的交汇。
Radiology. 2021 Jul;300(1):17-30. doi: 10.1148/radiol.2021203487. Epub 2021 May 11.
4
Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia.遗传性出血性毛细血管扩张症诊断与管理的第二版国际指南。
Ann Intern Med. 2020 Dec 15;173(12):989-1001. doi: 10.7326/M20-1443. Epub 2020 Sep 8.
5
Prenatal diagnosis and treatment of intrahepatic arteriovenous fistulas: case reports and the literature review.产前诊断和治疗肝内动静脉瘘：病例报告及文献复习。
J Matern Fetal Neonatal Med. 2022 Mar;35(5):837-845. doi: 10.1080/14767058.2020.1731466. Epub 2020 Apr 2.
6
An ACVRL1 gene mutation presenting as vein of Galen malformation at prenatal diagnosis.产前诊断为 ACVRL1 基因突变致静脉性脑-心-视网膜血管发育不良
Am J Med Genet A. 2020 May;182(5):1255-1258. doi: 10.1002/ajmg.a.61535. Epub 2020 Mar 14.
7
Correlations among Congenital Hepatic Shunt, Absent Ductus Venosus, and Umbilical Vein Shunt Revealed by Prenatal Ultrasound.产前超声显示先天性肝分流、静脉导管缺如和脐静脉分流之间的相关性。
Fetal Diagn Ther. 2020;47(3):237-244. doi: 10.1159/000502182. Epub 2019 Sep 25.
8
Prenatal diagnosis of intra hepatic arterio venous fistula: case report and review of the literature.肝内动静脉瘘的产前诊断：病例报告及文献复习
J Matern Fetal Neonatal Med. 2019 Aug;32(15):2575-2578. doi: 10.1080/14767058.2018.1438400. Epub 2018 Feb 20.
9
Prenatal presentation of hereditary hemorrhagic telangiectasia - a report of two sibs.遗传性出血性毛细血管扩张症的产前表现——两例同胞报道
Prenat Diagn. 2016 Sep;36(9):891-3. doi: 10.1002/pd.4869. Epub 2016 Aug 9.
10
Symptomatic liver involvement in neonatal hereditary hemorrhagic telangiectasia.新生儿遗传性出血性毛细血管扩张症的肝脏症状性受累。
Pediatrics. 2011 Jun;127(6):e1615-20. doi: 10.1542/peds.2010-2366. Epub 2011 May 2.