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肝脏遗传性出血性毛细血管扩张症1例 被引量:1

Hereditary hemorrhagic telangiectasia: one case report
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摘要 患者男,34岁。体检时超声发现肝内回声不均来院进一步检查。患者主述自幼反复鼻出血,不易止血,随年龄增长出血症状略有减轻。查体发现口腔粘膜及颌面部皮肤见点状红斑,压之褪色。实验室检查:乙肝表面抗原(+)、乙型肝炎e抗体(+)、乙肝核心抗体阳性(+);肝功能检查无异常。患者奶奶、父亲、叔叔、表妹均有类似临床症状.
作者 张凌霞 王子堂 庞善军 陈立平 赵静 ZHANG lingxia;WANG Zitang;PANG Shanjun
出处 《医学影像学杂志》 2022年第10期1715-1715,1721,共2页 Journal of Medical Imaging
基金 广东省医学科学技术研究基金项目(编号:B2019183)。
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  • 1Dakeishi M, Shioya T, Wada Y, et al. Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part ofJapan[J]. Hum Mutat, 2002,19(2):140-148.
  • 2Shovlin CL, Guttmacher AE, Buscarini E, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu -Osler -Weber syndrome)[J]. AmJ Med Genet, 2000,91 (1 ):66-67.
  • 3Mcallister KA, Grogg KM,Johnson DW, et al. Endoglin, a TGF -beta binding protein of endothelial cells, is the gene for hereditary haem?orrhagic telangiectasia type 1[J]. Nat Genet, 1994,8(4):345-351.
  • 4Johnson DW, Berg IN, Baldwin MA, et al. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiecta?sia type 2[J]. Nat Genet, 1996,13(2):189-195.
  • 5Letteboer TG, Zewald RA, Kamping EJ, et al. Hereditary hemor?rhagic telangiectasia: ENG and ALK-l mutations in Dutch patients[J]. Hum Genet, 2005,116(1-2):8-16.
  • 6Sabba C, Pasculli G, Lenato GM, et al. Hereditary hemorrhagic telangiectasia: clinical features in ENG and ALKI mutation carriers[J].J Thromb Haemost, 2007,5(6):1149-1157.
  • 7Olivieri C, Mira E, Delu G, et al. Identification of 13 new mutations in the ACVRLl gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia[J].J Med Genet, 2002,39(7 ):E39.
  • 8Braverman 1M, Keh A,Jacobson BS. Ultrastructure and three-di?mensional organization of the telangiectases of hereditary hemor?rhagic telangiectasia[J].J Invest Dermatol, 1990,95(4):422-427.
  • 9Buscarini E, Buscarini L, Civardi G, et al. Hepatic vascular malfor?mations in hereditary hemorrhagic telangiectasia: imaging findings[J]. AJR AmJ Roentgenol, 1994,163(5):1105-1110.
  • 10Bauer T, Britton P, Lomas D, et al. Liver transplantation for hepat?ic arteriovenous malformation in hereditary haemorrhagic telang?iectasia[J].J Hepatol, 1995,22(5 ):586-590.

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