Congenital Disorders of Ribosome Biogenesis and Bone Marrow Failure

被引：13

作者：

Sakamoto, Kathleen M. ^{[1
]}

Shimamura, Akiko ^{[2
]}

Davies, Stella M. ^{[3
]}

机构：

[1] Univ Calif Los Angeles, David Geffen Sch Med, Div Hematol Oncol,Mol Biol Inst,Calif Nanosyst In, Dept Pediat,Jonsson Comprehens Canc Ctr,Gwynne Ha, Los Angeles, CA 90095 USA

[2] Seattle Childrens Hosp, Fred Hutchinson Canc Res Ctr, Seattle, WA USA

[3] Cincinnati Childrens Hosp, Cincinnati, OH USA

来源：

BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION | 2010年 / 16卷 / 01期

关键词：

Ribosome; Bone marrow failure; Stem cell transplantation;

D O I：

10.1016/j.bbmt.2009.09.012

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Diamond Blackfan anemia (DBA) is a congenital bone marrow (BM) failure syndrome that typically results in macrocytic anemia within the first year of life. DBA is also associated with birth defects, increased incidence of cancer, and other cytopenias. Shwachman-Diamond syndrome (SDS) is a multisystem disease characterized by exocrine pancreatic dysfunction, impaired hematopoiesis, and leukemia predisposition. Other clinical features include skeletal, immunologic, hepatic, and cardiac disorders. Treatment for these BM failure syndromes, including stem cell transplantation (SCT), will be discussed in this review. (C) 2010 American Society for Blood and Marrow Transplantation

引用

页码：S12 / S17

页数：6

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