中文English
ISSN 1001-5256 (Print)
ISSN 2097-3497 (Online)
CN 22-1108/R

留言板

尊敬的读者、作者、审稿人, 关于本刊的投稿、审稿、编辑和出版的任何问题, 您可以本页添加留言。我们将尽快给您答复。谢谢您的支持!

姓名
邮箱
手机号码
标题
留言内容
验证码

超声诊断遗传性出血性毛细血管扩张症1例报告

李杰 李彤 孙晓峰

引用本文:
Citation:

超声诊断遗传性出血性毛细血管扩张症1例报告

DOI: 10.3969/j.issn.1001-5256.2019.06.037
基金项目: 

吉林省科技发展计划资助项目(20180201043YY); 

详细信息
  • 中图分类号: R445.1;R543.7

Ultrasound diagnosis of hereditary hemorrhagic telangiectasia: A case report

Research funding: 

 

  • 摘要:

    <正>1病例资料患者女性,36岁,因"咳嗽、咳痰1个月余,呼吸困难2 d"于2017年12月19日入吉林大学第二医院。既往史:自幼反复自发性鼻出血。家族史:患者祖母、父亲、姑姑、表哥均有反复鼻出血病史,祖母与姑姑(小)已去世(死因不明),姑姑(大)死于心脏病。入院查体:全身皮肤及黏膜未见黄染及出血点,无紫绀、杵状指。腹部超声示:肝脏体积不大,形态规则,被膜光滑,肝内管道系统回声增强并分割肝实质呈粗颗粒感,CDFI可见

     

  • [1]McDONALD J, BAYRAK-TOYDEMIR P, PYERITZ RE.Hereditary hemorrhagic telangiectasia:An overview of diagnosis, management, and pathogenesis[J].Genet Med, 2011, 13 (7) :607-616.
    [2]ZHAO YL, ZHANG Y, WANG XD, et al.Applying of the curacao criteria combined with genetic testing for the diagnosis of hereditary hemorrhagic telangiectasia[J].Chin Arch Otolaryngol Head Neck Surg, 2018, 25 (9) :507-511. (in Chinese) 赵亚丽, 张媛, 王向东, 等.遗传性出血性毛细血管扩张症临床及基因检测综合诊断的应用[J].中国耳鼻咽喉头颈外科, 2018, 25 (9) :507-511.
    [3]XU C, WANG HT.Research progress of bevacizumab in the treatment of refractory epistaxis caused by hereditary hemorrhagic telangiectasia[J].Chin J Otorhinolaryngol Head Neck Surg, 2016, 51 (6) :476-479. (in Chinese) 徐丛, 王洪田.贝伐单抗治疗遗传性出血性毛细血管扩张症所致难治性鼻出血研究进展[J].中华耳鼻咽喉头颈外科杂志, 2016, 51 (6) :476-479.
    [4]GUILHEM A, FARGETON AE, SIMON AC, et al.Intra-venous bevacizumab in hereditary hemorrhagic telangiectasia (HHT) :A retrospective study of 46 patients[J].PLo S One, 2017, 12 (11) :e0188943.
    [5]FU QL, HUANG F, TANG YH, et al.Hereditary hemorrhagic telangiectasia with liver cirrhosis:A case report[J].J Clin Hepatol, 2017, 33 (5) :940-942. (in Chinese) 傅琪琳, 黄甫, 唐颖慧, 等.遗传性出血性毛细血管扩张症合并肝硬化1例报告[J].临床肝胆病杂志, 2017, 33 (5) :940-942.
    [6]LI YH, LI L, REN KW, et al.One case:Intestinal bleeding with hereditary hemorrhagic telangiectasia[J].J Pract Radiol, 2018, 34 (7) :1146. (in Chinese) 李亚华, 李磊, 任克伟, 等.遗传性毛细血管扩张症肠道出血1例[J].实用放射学杂志, 2018, 34 (7) :1146.
    [7]CASELITZ M, BAHR MJ, BLECK JS, et al.Sonographic criteria for the diagnosis of hepatic involvement in hereditary hemorrhagic telangiectasia (HHT) [J].Hepatology, 2003, 37 (5) :1139-1146.
    [8]XU ZH, LYU K, JIANG YX, et al.Sonographie features of diffus hepatoportal arteriovenous fistulas[J].Chin J Med Imaging Technol, 2008, 24 (5) :700-702. (in Chinese) 徐钟慧, 吕珂, 姜玉新, 等.弥漫性肝动脉-门静脉瘘的超声诊断价值[J].中国医学影像技术, 2008, 24 (5) :700-702.
    [9]CHEN W, ZHANG HB, CUI LG, et al.Color Doppler sonographic findings in hereditary hemorrhagic telangiectasia with hepatic involvement[J].Chin J Med Imaging Technol, 2006, 22 (4) :572-574. (in Chinese) 陈文, 张华斌, 崔立刚, 等.彩色多普勒超声诊断累及肝脏的遗传性、出血性毛细血管扩张症[J].中国医学影像技术, 2006, 22 (4) :572-574.
    [10]CHEN SJ, BAI DF, XIA MY, et al.Ultrason ographic application in diagnosing hereditary hemorrhagic telangiectasia involving liver[J].Chinese J Ultrasound Med J, 2007, 23 (3) :233-235. (in Chinese) 陈胜江, 白东峰, 夏明钰, 等.超声在遗传性出血性毛细血管扩张症肝受累中的应用价值[J].中国超声医学杂志, 2007, 23 (3) :233-235.
    [11]WANG LH, ZHANG ZH, GU CH, et al.Gene identification in a family of hereditary hemorrhagic telangiectasi[J].Chin J Hematol, 2018, 39 (6) :476-479. (in Chinese) 王丽红, 张志华, 谷翠红, 等.一个遗传性出血性毛细血管扩张症家系的基因分析[J].中华血液学杂志, 2018, 39 (6) :476-479.
  • 加载中
计量
  • 文章访问数:  1367
  • HTML全文浏览量:  8
  • PDF下载量:  274
  • 被引次数: 0
出版历程
  • 出版日期:  2019-06-20
  • 分享
  • 用微信扫码二维码

    分享至好友和朋友圈

目录

    /

    返回文章
    返回