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以下肢深静脉血栓形成、腹痛、便血为首发表现的蛋白S缺陷症一例 被引量：3

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摘要 患者男，30岁，右下肢肿痛4个月，腹痛、便血2个月，神志模糊3d。患者4个月前因右下肢深静脉血栓形成，接受下腔静脉滤器植入术，术后接受华法林（2．5mg／d）治疗20d，INR为1．08～1．82。患者2个月前出现阵发性脐周绞痛，腹痛后排暗红色黏液血便，每日10余次。患者1个月前出现右侧肢体乏力伴视物模糊，接受糖皮质激素治疗后无效。
作者 杨秋辰 陈旻湖 陈洁
机构地区 中山大学附属第一医院消化内科
出处 《中华消化杂志》 CAS CSCD 北大核心 2014年第1期58-59,共2页 Chinese Journal of Digestion
关键词 下肢深静脉血栓形成 腹痛 首发表现 便血 缺陷症 蛋白S 下腔静脉滤器植入术 激素治疗
分类号 R57 [医药卫生—消化系统]
  • 相关文献

参考文献13

  • 1Castoldi E,Hackeng TM. Regulation of coagulation by protein S[J].{H}Current Opinions in Hematology,2008,(5):529-536.
  • 2Garcia de Frutos P. Protein S:an anticoagulant in its own right[J].{H}Thrombosis and Haemostasis,2012,(4):601.
  • 3Peraramelli S,Rosing J,Hackeng TM. TFPI-dependent activities of protein S[J].{H}Thrombosis research,2012,(Suppl 2):S23-S26.
  • 4Doganay S,Sonmezgoz F,Sen Y. Deep vein thrombosis associated with protein C and protein S deficiency:an unusual cause of acute abdomen[J].{H}Journal of Clinical Ultrasound,2011,(5):287-289.
  • 5Mondal R,Nandi M,Dhibar T. Protein C and protein S deficiency presenting as deep venous thrombosis[J].{H}Indian Pediatrics,2010,(2):188-189.
  • 6叶絮,刘晓力,冯莹,周旭红,邢志芳.蛋白S基因突变导致深静脉血栓形成的研究[J].南方医科大学学报,2011,31(7):1228-1231. 被引量：5
  • 7Hayakawa T,Morimoto A,Nozaki Y. Mesenteric venous thrombosis in a child with type 2 protein S deficiency[J].{H}Journal of Pediatric Hematology Oncology,2011,(2):141-143.
  • 8Bignon M,Dahdouh Z,Roule V. Massive pulmonary embolism arising from a bifid ovarian vein in a patient with proteinSdeficiency[J].CardiolJ,2011,(6):701.
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二级参考文献12

  • 1赵永强.易栓症研究概况[J].中国实用内科杂志,2007,27(1):49-52. 被引量：58
  • 2Beauchamp NJ, Dykes AC, Parikh N, et al. The prevalence of, and molecular defects underlying,inherited protein S deficiency in the general population[J]. Br J Haematol, 2004, 125(5): 647-54.
  • 3Lind B, Solinge WW, Schwartz M, et al. Splice site mutation in the human protein C gene associated with venous thrombosis: demonstration of eon skipping by ectopic transcript analysis[J].Blood, 1993, 82(8): 2423-32.
  • 4Hirose M, Kimura F, Wang HQ, et al. Protein S gene mutation in a young woman with type III protein S deficiency and venous thrombosis during pregnancy[J]. J Thromb Thrombolysis, 2002, 13 (2): 85-8.
  • 5Okada H, Kunishima S, Hamaguchi M, et al. A novel splice site mutation in intron C of PROS I leads to markedly reduced mutant mRNA level,absence of thrombin-sensitive region,and impaired secretion and cofactor activity of mutant protein S[J]. Thromb Res, 2010, 125(5): e246-e50.
  • 6Mizukami K, Nakabayashi T, Naitoh S, et al. One novel and one recurrent mutation in the PROS I gene cause type I protein S deficiency in patients with pulmonary embolism associated with deep vein thrombosis[J]. Am J Hematol, 2006, 81( 10): 787-97.
  • 7Espinosa YP, Morell M, Souto JC, et al. Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency[J]. Hum Mutat, 1999, 14 (1): 30-9.
  • 8Kato M, Iida S, Sato M, et al. Superior mesenteric venous thrombosis associated with a familial missense mutation (pro626Leu)in the SHBG-Iike domain of the protein S molecule [J]. Int J Hematol, 2002, 75(1): 100-3.
  • 9Hirose M, Kimura F, Wang HQ, et al. Protein S gene mutation in a young woman with type III protein S deficiency and venous thrombosis during pregnancy[J]. J Thromb Thrombolysis, 2002, 13 (2): 85-8.
  • 10Espinosa YP, Yamazaki T, Sala N, et al. Protein S secretion differences of missense mutants account for phenotypic heterogeneity[Jl. Blood, 2000, 95(1): 173-9.

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中华消化杂志
2014年 第1期

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