Diamond-Blackfan anemia

被引:59
作者
Willig, TN
Gazda, H
Sieff, CA
机构
[1] Dana Farber Canc Inst, Div Pediat Hematol & Oncol, Boston, MA 02115 USA
[2] Hop Bicetre, Assistance Publ Hop Paris, Dept Pediat, F-94275 Le Kremlin Bicetre, France
[3] Hop Bicetre, Assistance Publ Hop Paris, Hematol Lab, F-94275 Le Kremlin Bicetre, France
[4] Univ Paris Sud, Fac Med Paris Sud, F-94275 Le Kremlin Bicetre, France
[5] Lawrence Berkeley Natl Lab, Div Life Sci, Berkeley, CA USA
[6] Childrens Hosp, Boston, MA 02115 USA
[7] Harvard Univ, Childrens Hosp, Sch Med, Div Genet, Boston, MA 02115 USA
[8] Harvard Univ, Sch Med, Dept Pediat, Boston, MA 02115 USA
关键词
D O I
10.1097/00062752-200003000-00003
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Diamond Blackfan anemia is a rare congenital hypoplastic anemia that usually presents early in infancy. Congenital anomalies, in particular of the head and upper limbs, are present in about 25% of reported patients. The disease is characterized by a moderate to severe macrocytic anemia, occasional neutropenia or thrombocytosis, a normocellular bone marrow with erythroid hypoplasia, and an increased risk of developing leukemia. Recent genetic studies have led to the identification of mutations in the ribosomal protein RPS19 in approximately 25% of sporadic and familial cases, a second gene on chromosome 8p, and evidence for an additional locus (or loci). The pathogenesis is unknown. The majority of patients respond to prednisone, and often erythropoiesis can be maintained with low doses of the drug. Both remissions and increased resistance to steroid treatment can occur. Patients who do not respond to treatment are usually transfusion dependent, although responses to high dose steroid, androgen, and interleukin-3 have been observed. Bone marrow transplantation can be curative. (C) 2000 Lippincott Williams & Wilkins, Inc.
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收藏
页码:85 / 94
页数:10
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