遗传性凝血因子Ⅶ缺陷症患者成功分娩一例报告暨文献复习
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摘要
<正>遗传性凝血因子Ⅶ缺陷症(hereditary factor Ⅶ deficiency)是一种常染色体隐性遗传病,系凝血因子Ⅶ(FⅦ)基因突变引起血浆中FⅦ功能发生障碍和(或)含量减少,影响外源性凝血途径的起始阶段从而导致临床出血症状的疾病,男女均可罹患~([1])。其实验室检查特点:凝血酶原时间延长,活化部分凝血活酶时间正常,FⅦ活性测定减低。该病由Alexander~([2])在1951年首次报道,约18%的患者与近亲婚配有关,发病率约为1/50
引文
[1] BORHANY M,BOIJOUT H,PELLEQUER JL,et al.Genotype and phenotype relationships in 10 Pakistani unrelated patients with inheritedfactor Ⅶ deficiency[J].Haemophilia,2013,19(6):893-897.
[2] ALEXANDER B,GOLDSTEIN R,LANDWEHR G,et al.Congenital SPCA deficiency:a hitherto unrecognized coagulation defect with hemorrhagerectified by serum and serum fractions.[J].J Clin Invest,1951,30(6):596-608.
[3] RIEDER CL,SALMON ED.The vertebrate cell kinetochore and its role during mitosis[J].Trends Cell Biology,2006,8(9):310.
[4] KWON MJ,YOO KY,LEE KO,et al.Recurrent mutations and genotype-phenotype correlations in hereditary factor Ⅶ deficiency in Korea[J].Blood Coagul Fibrinolysis,2011,22(2):102-105.
[5] 苏正仙,张慧斐,金艳慧,等.纯合子Cys329 Gly导致的遗传性凝血因子Ⅶ缺陷症家系基因突变分析[J].中国优生与遗传杂志,2016,24(8):21-23.
[6] PEYVANDI F,MANNUCCI PM,JENKINS PV,et al.Homozygous 2 bp deletion in the human factor Ⅶ gene:anon-lethal mutation that is associated with a completeabsence of circulating factor Ⅶ[J].Thromb Haemost,2000,84(4):635-637.
[7] MARIANI G,HERRMANN FH,DOLCE A,et al.Clinical phenotypesand factor Ⅶ genotype in congenital factor Ⅶ deficiency[J].Thromb Haemost,2005,93(3):481-487.
[8] SAKAKIBARA K,OKAYAMA Y,et al.Japanese family with congenital factor Ⅶ deficiency[J].Pediatr Int,2015,57(5):1023-1024.
[9] HERRMANN FH,WULFF K,AUERSWALD G,et al.Factor Ⅶ deficiency:clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene[J].Haemophilia,2009,15(1):267-280.
[10] BENLAKHAL F,MURA T,SCHVED JF,et al.A retrospective analysis of 157 surgical procedures performed without replacement therapy in 83 unrelated factor Ⅶ deficient patients[J].JThromb Haemost,2011,9(6):1149-1156.
[11] ARELLANO-RODRIGO E,GIRONELLA M,NICOLAU I,et al.Clinicalmanagement of thrombosis in inherited factor Ⅶ deficiency:a description of two cases[J].Thromb Haemost,2009,101(2):402-404.
[12] MARTY S,BARRO C,CHATELAIN B,et al.The paradoxical associationbetween inherited factor Ⅶ deficiency and venous thrombosis[J].Haemophilia,2008,14(3):564-570.
[13] LAPECORELLA M,MARIANI G.Factor Ⅶ deficiency:definingthe clinical picture and optimizing therapeutic options[J].Haemophilia,2008,14(6):1170-1175.
[14] WISZNIEWSKI A,SZCZEPANIK A,MISIAK A,et al.Prevention of bleeding and hemorrhagic complications in surgical patients with inherited factor Ⅶ deficiency[J].Blood Coagul Fibrinolysis,2015,26(3):324-330.
[2] ALEXANDER B,GOLDSTEIN R,LANDWEHR G,et al.Congenital SPCA deficiency:a hitherto unrecognized coagulation defect with hemorrhagerectified by serum and serum fractions.[J].J Clin Invest,1951,30(6):596-608.
[3] RIEDER CL,SALMON ED.The vertebrate cell kinetochore and its role during mitosis[J].Trends Cell Biology,2006,8(9):310.
[4] KWON MJ,YOO KY,LEE KO,et al.Recurrent mutations and genotype-phenotype correlations in hereditary factor Ⅶ deficiency in Korea[J].Blood Coagul Fibrinolysis,2011,22(2):102-105.
[5] 苏正仙,张慧斐,金艳慧,等.纯合子Cys329 Gly导致的遗传性凝血因子Ⅶ缺陷症家系基因突变分析[J].中国优生与遗传杂志,2016,24(8):21-23.
[6] PEYVANDI F,MANNUCCI PM,JENKINS PV,et al.Homozygous 2 bp deletion in the human factor Ⅶ gene:anon-lethal mutation that is associated with a completeabsence of circulating factor Ⅶ[J].Thromb Haemost,2000,84(4):635-637.
[7] MARIANI G,HERRMANN FH,DOLCE A,et al.Clinical phenotypesand factor Ⅶ genotype in congenital factor Ⅶ deficiency[J].Thromb Haemost,2005,93(3):481-487.
[8] SAKAKIBARA K,OKAYAMA Y,et al.Japanese family with congenital factor Ⅶ deficiency[J].Pediatr Int,2015,57(5):1023-1024.
[9] HERRMANN FH,WULFF K,AUERSWALD G,et al.Factor Ⅶ deficiency:clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene[J].Haemophilia,2009,15(1):267-280.
[10] BENLAKHAL F,MURA T,SCHVED JF,et al.A retrospective analysis of 157 surgical procedures performed without replacement therapy in 83 unrelated factor Ⅶ deficient patients[J].JThromb Haemost,2011,9(6):1149-1156.
[11] ARELLANO-RODRIGO E,GIRONELLA M,NICOLAU I,et al.Clinicalmanagement of thrombosis in inherited factor Ⅶ deficiency:a description of two cases[J].Thromb Haemost,2009,101(2):402-404.
[12] MARTY S,BARRO C,CHATELAIN B,et al.The paradoxical associationbetween inherited factor Ⅶ deficiency and venous thrombosis[J].Haemophilia,2008,14(3):564-570.
[13] LAPECORELLA M,MARIANI G.Factor Ⅶ deficiency:definingthe clinical picture and optimizing therapeutic options[J].Haemophilia,2008,14(6):1170-1175.
[14] WISZNIEWSKI A,SZCZEPANIK A,MISIAK A,et al.Prevention of bleeding and hemorrhagic complications in surgical patients with inherited factor Ⅶ deficiency[J].Blood Coagul Fibrinolysis,2015,26(3):324-330.