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阵发性睡眠性血红蛋白尿发病机制的研究进展 被引量：2

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摘要 阵发性睡眠性血红蛋白尿（paroxysmal nocturnal hemoglobinuria，PNH）是一种获得性造血干细胞疾病，目前学者们基本认同PNH发病的“双发病机制”说，即磷脂酰肌醇聚糖A基因突变致糖基磷脂酰肌醇锚链蛋白缺乏以及PNH异常造血干细胞的克隆扩增。但目前为止，其确切的发病机制仍不清楚。
作者 李秀(综述) 何明生(审校)
机构地区 云南省肿瘤医院血液科
出处 《国际输血及血液学杂志》 CAS 2010年第3期271-274,共4页 International Journal of Blood Transfusion and Hematology
关键词 阵发性睡眠性血红蛋白尿 发病机制 骨髓衰竭
分类号 R556.64 [医药卫生—血液循环系统疾病]
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参考文献38

  • 1韩冰(综述),赵永强(审校).阵发性睡眠性血红蛋白尿症研究进展[J].国际输血及血液学杂志,2009(6):497-500. 被引量：3
  • 2Miyata T,Takeda J,Iida Y,et al.The cloning of PIG-A,a component in the early step of GPI-anchor biosynthesis.Science,1993,259(5099):1318-1320.
  • 3Takeda J,Miyata T,Kawagoe K,et al.Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria.Cell,1993,73(4):703-711.
  • 4Nishimura J,Inoue N,wada H,et al.A patient with paroxysmal nocturnal hemoglobinuria bearing four independent PIG-A mutant clones.Blood,1997,89(9):3470-3476.
  • 5Brodsky RA,Hu R.PIG-A mutations in paroxysmal nocturnal hemoglobinuria and in normal hematopoiesis.Leuk Lymphoma,2006,47(7):1215-1221.
  • 6Araten DJ,Luzzatto L.The mutation rate in PIG-A is normal in patients with paroxysmal nocturnal hemoglobinuria(PNH).Blood,2006,108(2):734-736.
  • 7Boccuni P,Del Vecchio L,Di Noto R,et al.Glycosyl phosphatidylinositol (GPI)-anchored molecules and the pathogenesis of paroxysmal nocturnal hemoglobinuria.Crit Rev Oncol Hematol,2000,33(1):25-43.
  • 8Ruiz-Delgado GJ,Vazquez-Garza E,Mendez-Ramirez N,et al.Abnormalities in the expression of CD55 and CD59 surface molecules on peripheral blood cells are not specific to paroxysmal nocturnal hemoglobinuria.Hematology,2009,14(1):33-37.
  • 9Hillmen P,Young NS,Schubert J,et al.The complement inhibitor eculizumab in paroxysmal nocturnal hemoglobinuria.N Engl J Med,2006,355(12):1233-1243.
  • 10Hillmen P,Muus P,Duhrsen U,et al.Effect of the complement inhibitor eculizumab on thromboembolism in patients with paroxysmal nocturnal hemoglobinuria.Blood,2007,110(12):4123-4128.

二级参考文献23

  • 1钟玉萍,武永吉,沈悌,汪玄,张洁萍.裸鼠腹腔输注体外扩增的阵发性睡眠性血红蛋白尿症病人骨髓CD34^+CD59^+细胞的研究[J].中国实验血液学杂志,2006,14(1):75-78. 被引量：4
  • 2Araten DJ, Nafa K, Pakdeesuwan K, et al. Clonal populations of hematopoietic cells with paroxysmal nocturnal hemoglobinuria genotype and phenotype are present in normal individuals. Proc Natl Acad Sci U S A,1999,96(9):5209-5214.
  • 3Keller P, Payne JL, Tremml G, et al. FES-Cre targets phosphatidylinositol glycan class A (PIGA) inactivation to hematopoietic stem cells in the bone marrow. J Exp Med, 2001, 194(5) :581-589.
  • 4Horikawa K, Kawaguchi T, Ishihara S, et al. Frequent detection of T cells with mutations of the hypoxanthine guanine phosphoribosyl transferase gene in patients with PNH. Blood, 2002,99(1) :24-29.
  • 5Karadimitris A, Manavalan JS, Thalcr HT. et al. Abnormal T-cell repertoire is consistent with immune process underlying the pathogenesis of paroxysmal nocturnal hemoglobinuria. Blood, 2000,96(7) :2613-2620.
  • 6Brodsky RA, Vala MS, Barber JP, et al. Resistance to apoptosis caused by PIG A gene mutations in paroxysmal nocturnal hemoglobinuria. Proc Natl Acad Sci U S A, 1997,94 (16) : 8756-8760.
  • 7Ware RE, Nishimura J, Moody MA, et al. The PIG-A mutation and absence of glycosylphosphatidylinositol-linked proteins do not confer resistance to apoptosis in paroxysmal nocturnal hemoglobinuria. Blood,1998,92(7) :2541-2550.
  • 8Brodsky RA, Hu R. PIG-A mutations in paroxysmal nocturnal hemoglobinuria and in normal hematopoiesis. Leuk Lymphoma, 2006,47(7) : 1215-221.
  • 9Hall C, Riehards S, Hillmen P. Primary prophylaxis with warfarin prevents thrombosis in paroxysmal nocturnal hemoglobinuria (PNH). Blood,2003,102(10) :3587-3591.
  • 10Moyo VM, Mukhina GL, Garrett ES, et al. Natural history of paroxysmal nocturnal haemoglobinuria using modern diagnostic assays. Br J Haematol, 2004,126(1):133-138.

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国际输血及血液学杂志
2010年 第3期

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