肝脏遗传性出血性毛细血管扩张症1例报告

王婷婷; 马亮; 陈建平

doi:10.3969/j.issn.1001-5256.2022.02.032

肝脏遗传性出血性毛细血管扩张症1例报告

DOI: 10.3969/j.issn.1001-5256.2022.02.032

江苏省常州市第一人民医院消化内科，江苏常州 213003

基金项目:

国家自然科学基金青年项目 (81700500);

常州市卫健委青苗人才项目 (CZQM2020079)

利益冲突声明：所有作者均声明不存在利益冲突。

作者贡献声明：王婷婷负责收集资料，撰写论文；马亮、陈建平负责指导修改文章并最后定稿。

详细信息

通信作者:
陈建平，cjp7668@sina.com

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出版历程
- 收稿日期: 2021-06-10
- 录用日期: 2021-08-10
- 出版日期: 2022-02-20

Hereditary hemorrhagic telangiectasia of the liver: A case report

Department of Gastroenterology, Changzhou First People's Hospital, Changzhou, Jiangsu 213003, China

Research funding:

Youth Project of National Natural Science Foundation of China (81700500);

Changzhou Health Commission Young Talent Project (CZQM2020079)

More Information

Corresponding author: CHEN Jianping, cjp7668@sina.com

摘要

- 毛细血管扩张, 遗传性出血性 /
- 肝疾病 /
- 动静脉畸形
- Telangiectasia, Hereditary Hemorrhagic /
- Liver Diseases /
- Arteriovenous Malformations

HTML全文

图 1 彩色多普勒血流显像

下载: 全尺寸图片幻灯片

图 2 腹部CT

注：a, 平扫期。肝脏、脾脏体积稍增大，肝脏右叶见数枚类圆形囊性低密度影，境界清、壁薄无强化；b, 动脉期。肝内、肝门区可见粗细不均、走行迂曲的动脉血管，肝实质强化不均，门静脉及肝静脉部分显影；c, 门静脉期。门静脉系统显影浅淡，脾静脉和下腔静脉增粗，主干迂曲扩张。

下载: 全尺寸图片幻灯片

图 3 腹主动脉CTA

注：腹腔干及其分支增粗、扭曲。

下载: 全尺寸图片幻灯片

参考文献(18)

[1]	LI J, LI T, SUN XF. Ultrasound diagnosis of heredi tary hemorrhagic telangiectasia: A case report[J]. J Clin Hepatol, 2019, 35(6): 1351-1352. DOI: 10.3969/j. issn. 1001-5256. 2019. 06. 037. 李杰, 李彤, 孙晓峰. 超声诊断遗传性出血性毛细血管扩张症1例报告[J]. 临床肝胆病杂志, 2019, 35(6): 1351-1352. DOI:10.3969/j. issn. 1001-5256. 2019. 06. 037.
[2]	MACRI A, BERMUDEZ R. Osler-Weber-Rendu disease[M]. Treasure Island(FL): StatPearls Publishing, 2018.
[3]	FELLI E, ADDEO P, FAITOT F, et al. Liver transplantation for hereditary hemorrhagic telangiectasia: A systematic review[J]. HPB (Oxford), 2017, 19(7): 567-572. DOI: 10.1016/j.hpb.2017.03.005.
[4]	SHOVLIN CL, GUTTMACHER AE, BUSCARINI E, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)[J]. Am J Med Genet, 2000, 91(1): 66-67. DOI: 10.1002/(sici)1096-8628(20000306)91:1<66::aid-ajmg12>3.0.co;2-p.
[5]	FAUGHNAN ME, PALDA VA, GARCIA-TSAO G, et al. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia[J]. J Med Genet, 2011, 48(2): 73-87. DOI: 10.1136/jmg.2009.069013.
[6]	GARCIA-TSAO G, KORZENIK JR, YOUNG L, et al. Liver disease in patients with hereditary hemorrhagic telangiectasia[J]. N Engl J Med, 2000, 343(13): 931-936. DOI: 10.1056/NEJM200009283431305.
[7]	ANDREJECSK JW, HOSMAN AE, BOTELLA LM, et al. Executive summary of the 12th HHT international scientific conference[J]. Angiogenesis, 2018, 21(1): 169-181. DOI: 10.1007/s10456-017-9585-2.
[8]	European Association for the Study of the Liver. EASL clinical practice guidelines: Vascular diseases of the liver[J]. J Hepatol, 2016, 64(1): 179-202. DOI: 10.1016/j.jhep.2015.07.040.
[9]	MCALLISTER KA, GROGG KM, JOHNSON DW, et al. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1[J]. Nat Genet, 1994, 8(4): 345-351. DOI: 10.1038/ng1294-345.
[10]	BERG JN, GALLIONE CJ, STENZEL TT, et al. The activin receptor-like kinase 1 gene: Genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2[J]. Am J Hum Genet, 1997, 61(1): 60-67. DOI: 10.1086/513903.
[11]	GALLIONE CJ, REPETTO GM, LEGIUS E, et al. A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4)[J]. Lancet, 2004, 363(9412): 852-859. DOI: 10.1016/S0140-6736(04)15732-2.
[12]	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. DOI: 10.16066/j.1672-7002.2018.09.012. 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. DOI: 10.16066/j.1672-7002.2018.09.012.
[13]	ABDALLA SA, LETARTE M. Hereditary haemorrhagic telangiectasia: Current views on genetics and mechanisms of disease[J]. J Med Genet, 2006, 43(2): 97-110. DOI: 10.1136/jmg.2005.030833.
[14]	JIN Y, MUHL L, BURMAKIN M, et al. Endoglin prevents vascular malformation by regulating flow-induced cell migration and specification through VEGFR2 signalling[J]. Nat Cell Biol, 2017, 19(6): 639-652. DOI: 10.1038/ncb3534.
[15]	GUILHEM A, FARGETON AE, SIMON AC, et al. Intra-venous bevacizumab in hereditary hemorrhagic telangiectasia (HHT): A retrospective study of 46 patients[J]. PLoS One, 2017, 12(11): e0188943. DOI: 10.1371/journal.pone.0188943.
[16]	MITCHELL A, ADAMS LA, MACQUILLAN G, et al. Bevacizumab reverses need for liver transplantation in hereditary hemorrhagic telangiectasia[J]. Liver Transpl, 2008, 14(2): 210-213. DOI: 10.1002/lt.21417.
[17]	RUIZ S, CHANDAKKAR P, ZHAO H, et al. Tacrolimus rescues the signaling and gene expression signature of endothelial ALK1 loss-of-function and improves HHT vascular pathology[J]. Hum Mol Genet, 2017, 26(24): 4786-4798. DOI: 10.1093/hmg/ddx358.
[18]	KIM YH, KIM MJ, CHOE SW, et al. Selective effects of oral antiangiogenic tyrosine kinase inhibitors on an animal model of hereditary hemorrhagic telangiectasia[J]. J Thromb Haemost, 2017, 15(6): 1095-1102. DOI: 10.1111/jth.13683.