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遗传性出血性毛细血管扩张症;病例报告。

Rendú Osler Weber Syndrome; case report.

作者信息

García Córdova Oscar Manuel, Pérez Morales Tania Cristina, Barón Hernández Verónica Andrea Del Pilar, Cuéllar José Sebastián Sotelo

机构信息

Interventional Radiologist, Departamento de radiología intervencionista, Hospital Regional 1° de Octubre del ISSSTE, Universidad Nacional Autónoma de México, CP 07300, C.D. Mx.

Specialist resident in interventional radiology, Hospital Regional 1° de Octubre del ISSSTE, Universidad Nacional Autónoma de México, CP 07300, C.D. Mx.

出版信息

Radiol Case Rep. 2022 Jun 19;17(9):3025-3030. doi: 10.1016/j.radcr.2022.05.088. eCollection 2022 Sep.

Abstract

Hereditary hemorrhagic telangiectasia (HHT), or Rendu-Osler-Weber disease, is a dominant autosomal disease characterized by the presence of multiple telangiectasia in skin and mucus, associated with arteriovenous malformations (AVM) of various organs, including the lungs, gastrointestinal system and brain. HHT is presented most frequently as recurrent, spontaneous epistaxis. Patients may also present digestive, pulmonary and intracranial hemorrhage, as well as secondary anemia. This article reports the case of a female patient, 62 years old, with multiple episodes of epistaxis and vaginal bleeding, with diagnosis of complex HHT, which was managed with multiple embolizations, which improved symptoms and survival. In this kind of patient, it is possible, with timely diagnosis and treatment, to obtain a greater quality and expectation of life. Due to the fact that the severity and alterations in each patient are so variable, management should be individualized.

摘要

遗传性出血性毛细血管扩张症(HHT),又称伦迪-奥斯勒-韦伯病,是一种常染色体显性疾病,其特征为皮肤和黏膜出现多处毛细血管扩张,并伴有包括肺、胃肠道系统和脑在内的多个器官的动静脉畸形(AVM)。HHT最常见的表现是反复自发性鼻出血。患者还可能出现消化道、肺部和颅内出血以及继发性贫血。本文报告了一名62岁女性患者的病例,该患者有多次鼻出血和阴道出血发作,诊断为复杂性HHT,通过多次栓塞治疗,症状得到改善,生存期延长。对于这类患者,及时诊断和治疗有可能提高生活质量和延长预期寿命。由于每个患者的严重程度和病变差异很大,治疗应个体化。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7ed7/9214720/25068cc4b551/gr1.jpg

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