先天性红细胞生成异常性贫血的研究进展
摘要
先天性红细胞生成异常性贫血(CDA)是一类少见的异常红系造血及其无效生成所致的异质性疾病,多为常染色体隐性遗传,包括经典的Ⅰ、Ⅱ、Ⅲ型和其他较少见类型(如Ⅳ、Ⅴ、Ⅵ、Ⅶ等)。本文就CDA各型的临床特征及其病理生理机制的研究现状作一综述。
出处
《国际输血及血液学杂志》
CAS
2009年第5期433-435,共3页
International Journal of Blood Transfusion and Hematology
参考文献18
-
1Shalev H, Kapelushnik J, Moser A, et al. A comprehensive study of the neonatal manifestations of congenital dyserythropoietic anemia type Ⅰ. J Pediatr Hematol Oncol, 2004, 26(11): 746-748.
-
2Wickramasinghe SN, Wood WG. Advances in the understanding of the congenital dyserythropoietic anaemias. Br J Haematol, 2005 7131(4):431-446.
-
3Tamary H,Offret H, Dgany O, et al. Congenital dyserythropoietic anaemia, type Ⅰ, in a Caucasian patient with retinal angioid streaks ( homozygous Arg1042Trp mutation in codanin 1 ). Eur J Haematol, 2008, 80 ( 3 ): 271-274.
-
4Ru YX, Zhu XF, Yan WW, er al. Congenital dyserythropoietic anemia in a Chinese family with a mutation of the CDAN1 gene. Ann Hematol, 2008,87(9) :751-754.
-
5Perrotta S, del Giudice EM, Carbone R, et al. Gilbert's syndrome accounts for the phenotypie variability of congenital dyserythropoietic anemia type Ⅱ (CDA-Ⅱ). J Pediatr, 2000, 136 (4): 556-559.
-
6Denecke J, Marquardt T. Congenital dyserythropoietic anemia type Ⅱ (CDAII/HEMPAS) : Where are we now? Biochim Biophys Acta,2008,25(12) :[Epub ahead of print].
-
7Heimpel H, Anselstetter V, Chrobak L, et al. Congenital dyserythropoietic anemia type Ⅱ: epldemiology, clinical appearance, and prognosis based on long-term observation. Blood, 2003, 102(13) :4576-4581.
-
8Heimpel, H. Congenital dyserythropoietic anemias : epidemiology,clinical significance, and progress in understanding their pathogenesis. Ann Hematol,2004, 83(10): 613-621.
-
9Heimpel H, Duhrsen U, Hofbauer P, et al. Bulky extramedullary hematopoiesis is not a rare complication of congenital dyserythropoietic anemia. Ann Hematol, 2009,88(10) : 937-941.
-
10Denecke J, Kranz C, Nimtz M, et al. Characterization of the N - glycosylation phenotype of erythrocyte membrane proteins in congenital dyserythropoietic anemia type Ⅱ (CDA Ⅱ/HEMPAS). Glycoconj J,2008, 25(4) :375-382.
-
1张勤,张雯,姚慧玉.先天性红细胞生成异常性贫血2例[J].中国实用儿科杂志,2002,17(1):41-41. 被引量:1
-
2先天畸形及代谢缺陷[J].中国中西医结合儿科学,2003(1):49-51.
-
3韩秀丽,韩春芳,张立明.先天性红细胞生成异常性贫血Ⅰ型致新生儿持续性肺动脉高压[J].新生儿科杂志,2001,16(4):189-189. 被引量:1
-
4李秀真,王志燕,郑欣馨.皮肤粘膜淋巴结综合征少见类型25例分析[J].齐鲁医学杂志,1998,13(3):202-202.
-
5李思璐,王小勤,冒青,郭义敏,陈艳.基因诊断先天性红细胞生成异常性贫血一例[J].中华儿科杂志,2016,54(11):860-861. 被引量:2
-
6马宏浩,张蕊,吴润晖,茹永新,张永红.先天性红细胞生成异常性贫血Ⅰ型——1例报告暨文献复习[J].中国小儿血液与肿瘤杂志,2009,14(5):216-220. 被引量:1
-
7陈英,张国平,曹励之,谢岷.两同胞兄弟共患先天性红细胞生成异常性贫血[J].中华儿科杂志,2005,43(12):944-945. 被引量:2
-
8李玲,傅海鸥,吴玉蕊.先天性红细胞生成异常性贫血一例[J].中国小儿血液,1999,4(6):266-267. 被引量:2
-
9王晓川.幼年特发性关节炎的病因和发病机制研究进展[J].中国实用儿科杂志,2005,20(10):577-579. 被引量:4
-
10谭凤英,李旺,吴雄.联合口服孟鲁司特治疗婴幼儿喘息性疾病189例疗效观察[J].云南医药,2012,33(5):447-449.