期刊文献+
任意字段
题名或关键词
题名
关键词
文摘
作者
第一作者
机构
刊名
分类号
参考文献
作者简介
基金资助
栏目信息

骨髓衰竭性疾病的诊断与治疗 被引量：2

Diagnosis and Treatment of Bone Marrow Failure
原文传递
导出
摘要 骨髓衰竭性疾病是一组以造血功能不良为主的疾病,其临床表现复杂多样,包括先天性和获得性二大类。典型的临床症状和畸形体征见于部分遗传性骨髓衰竭综合征(IBMFS),其诊断需要结合实验室检查及特异的基因突变测定。先天性和获得性骨髓衰竭的治疗方法差异较大,免疫抑制治疗是获得性再生障碍性贫血(AA)的主要治疗方法之一,而对IBMFS无效。造血干细胞移植是治疗IBMFS和获得性AA的有效方法。IBMFS对药物耐受较差,移植前预处理方案应减弱。现对先天性和获得性二大类骨髓衰竭性疾病综述如下。
作者 刘秋霞 汤静燕
机构地区 上海交通大学医学院附属上海儿童医学中心血液/肿瘤科
出处 《实用儿科临床杂志》 CAS CSCD 北大核心 2012年第3期228-232,共5页 Journal of Applied Clinical Pediatrics
关键词 骨髓衰竭 先天性 获得性 再生障碍性贫血
分类号 R725.5 [医药卫生—儿科]
  • 相关文献

参考文献17

  • 1Auerbach AD,Adler B,Chaganti RS.Prenatal and postnatal diagnosisand carrier detection of Fanconi anemia by a cytogenetic method[J].Pediatrics,1981,67(1):128-135.
  • 2Wang W.Emergence of a DNA-damage response network consisting ofFanconi anaemia and BRCA proteins[J].Nat Rev Genet,2007,8(10):735-748.
  • 3De Winter JP,Joenje H.The genetic and molecular basis of Fanconi ane-mia[J].Mutat Res,2009,668(1-2):11-19.
  • 4Rosenberg PS,SociéG,Alter BP,et al.Risk of head and neck squamouscell Cancer and death in patients with Fanconi anemia who did and didnot receive transplants[J].Blood,2005,105(1):67-73.
  • 5Gluckman E,Wagner JE.Hematopoietic stem cell transplantation inchildhood inherited bone marrow failure syndrome[J].Bone MarrowTransplant,2008,41(2):127-132.
  • 6Calado RT.Telomeres and marrow failure[Z].2009:338-343.
  • 7Aubert G,Lansdorp PM.Telomeres and aging[J].Physiol Rev,2008,88(2):557-579.
  • 8Ip WF,Dupuis A,Ellis L,et al.Serum pancreatic enzymes define thepancreatic phenotype in patients with Shwachman-Diamond syndrome[J].J Pediatr,2002,141(2):259-265.
  • 9Menne TF,Goyenechea B,Sánchez-Puig N.The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomesin yeast[Z].2007.
  • 10Vlachos A,Ball S,Dahl N,et al.Diagnosing and treating DiamondBlackfan anaemia:Results of an international clinical consensus confe-rence[J].Br J Haematol,2008,142(6):859-876.

同被引文献19

  • 1竺晓凡.儿童骨髓衰竭综合征[J].实用儿科临床杂志,2007,22(3):165-167. 被引量：5
  • 2Sakaguchi H,Nakanishi K,Kojima S.Inherited bone marrow failure syndromes in 2012[J].Int J Hematol,2013,97(1):20-29.
  • 3Chirnomas SD,Kupfer GM.The inherited bone marrow failure syndromes[J].Pediatr Clin North Am,2013,60 (6):1291-1310.
  • 4Khincha PP,Savage SA.Genomic characterization of the inherited bone marrow failure syndromes[J].Semin Hematol,2013,50(4):333-347.
  • 5Raiser DM,Narla A,Ebert BL.The emerging importance of ribosomal dysfunction in the pathogenesis of hematologic disorders[J].Leuk Lymphoma,2014,55(3):491-500.
  • 6Gramatges MM,Bertuch AA.Short telomeres:from dyskeratosis congenita to sporadic aplastic anemia and malignancy[J].Transl Res,2013,162(6):353-363.
  • 7Crossan GP,Patel KJ.The Fanconi anaemia pathway orchestrates incisions at sites of crosslinked DNA[J].J Pathol,2012,226(2):326-337.
  • 8Su Z,Ning B,Fang H,et al.Next-generation sequencing and its applications in molecular diagnostics[J].Expert Rev Mol Diagn,2011,11(3):333-343.
  • 9Ku CS,Cooper DN,Polychronakos C,et al.Exome sequencing:dual role as a discovery and diagnostic tool[J].Ann Neurol,2012,71(1):5-14.
  • 10Jones MA,Bhide S,Chin E,et al.Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation[J].Genet Med,2011,13(11):921-932.

引证文献2

二级引证文献2

实用儿科临床杂志
2012年 第3期

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部