The Inherited Bone Marrow Failure Syndromes

被引：37

作者：

Chirnomas, S. Deborah ^{[1
]}

Kupfer, Gary M. ^{[1
]}

机构：

[1] Yale Univ, Sch Med, Sect Pediat Hematol Oncol, New Haven, CT 06520 USA

来源：

PEDIATRIC CLINICS OF NORTH AMERICA | 2013年 / 60卷 / 06期

关键词：

Ribosomopathies; Fanconi anemia; Diamond-Blackfan anemia; Dyseratosis congenita; Shwachman-Diamond; Bone marrow failure; DNA repair; Cancer susceptibility; DIAMOND-BLACKFAN ANEMIA; CONGENITAL DYSERYTHROPOIETIC ANEMIA; CARTILAGE-HAIR HYPOPLASIA; COLONY-STIMULATING FACTOR; STEM-CELL TRANSPLANTATION; ACUTE MYELOID-LEUKEMIA; RIBOSOMAL-PROTEIN S19; HEMATOPOIETIC GROWTH-FACTORS; ABSENT RADII SYNDROME; FANCONI-ANEMIA;

D O I：

10.1016/j.pcl.2013.09.007

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Molecular pathogenesis may be elucidated for inherited bone marrow failure syndromes (IBMFS). The study and presentation of the details of their molecular biology and biochemistry is warranted for appropriate diagnosis and management of afflicted patients and to identify the physiology of the normal hematopoiesis and mechanisms of carcinogenesis. Several themes have emerged within each subsection of IBMFS, including the ribosomopathies, which include ribosome assembly and ribosomal RNA processing. The Fanconi anemia pathway has become interdigitated with the familial breast cancer syndromes. In this article, the diseases that account for most IBMFS diagnoses are analyzed.

引用

页码：1291 / +

页数：21

共 156 条

[1] RHG-CSF FOR SHWACHMAN SYNDROME [J].

ADACHI, N ;

TSUCHIYA, H ;

NUNOI, H ;

HIGUCHI, S ;

AKABOSHI, I ;

CHIKAZAWA, S .

LANCET, 1990, 336 (8723) :1136-1136

[2]

ALTER BP, 1978, PEDIATRICS, V62, P613

[3] Fanconi's Anemia, transplantation, and cancer [J].

Alter, BP .

PEDIATRIC TRANSPLANTATION, 2005, 9 :81-86

[4]

ALTER BP, 1979, EXP HEMATOL, V7, P200

[5] RED-CELL APLASIA IN CHILDREN [J].

ALTER, BP ;

NATHAN, DG .

ARCHIVES OF DISEASE IN CHILDHOOD, 1979, 54 (04) :263-267

[6]

ALTER BP, 1998, HEMATOLOGY INFANCY C, V1, P237

[7]

Anil S, 1994, Ann Dent, V53, P15

[8] Osteogenic sarcoma in a child with transfusion-dependent Diamond-Blackfan anemia [J].

Aquino, VM ;

Buchanan, GR .

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, 1996, 18 (02) :230-232

[9] A Dominant Mutation in the Gene Encoding the Erythroid Transcription Factor KLF1 Causes a Congenital Dyserythropoietic Anemia [J].

Arnaud, Lionel ;

Saison, Carole ;

Helias, Virginie ;

Lucien, Nicole ;

Steschenko, Dominique ;

Giarratana, Marie-Catherine ;

Prehu, Claude ;

Foliguet, Bernard ;

Montout, Lory ;

de Brevern, Alexandre G. ;

Francina, Alain ;

Ripoche, Pierre ;

Fenneteau, Odile ;

Da Costa, Lydie ;

Peyrard, Thierry ;

Coghlan, Gail ;

Illum, Niels ;

Birgens, Henrik ;

Tamary, Hannah ;

Iolascon, Achille ;

Delaunay, Jean ;

Tchernia, Gil ;

Cartron, Jean-Pierre .

AMERICAN JOURNAL OF HUMAN GENETICS, 2010, 87 (05) :721-727

[10]

AZCONA C, 1994, EUR J PEDIATR, V153, P164, DOI 10.1007/BF01958976

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