Federman Noah, Sakamoto Kathleen M
Division of Hematology-Oncology and Pathology and Laboratory Medicine, Mattel Children's Hospital, David Geffen School of Medicine at UCLA, 10833 Le Conte Avenue, Los Angeles, CA 90095-1752, USA.
Mol Genet Metab. 2005 Sep-Oct;86(1-2):100-9. doi: 10.1016/j.ymgme.2005.07.006.
The bone marrow failure syndromes consist of a number of rare diseases, in which there is ineffective hematopoiesis by the bone marrow. Subsequently, absent or decreased production of a single cell line, single cytopenia, or of all cell lines, and pancytopenia, develops. The mechanisms of hematopoiesis and the defects that result in bone marrow failure are beginning to be better understood. This paper will review the genetic and molecular basis of several important bone marrow failure syndromes in children, Fanconi anemia, Shwachman-Diamond syndrome, Diamond-Blackfan anemia, congenital amegakaryocytic thrombocytopenia, dyskeratosis congenita, and severe congenital neutropenia, and the recent discoveries that have enhanced our understanding of the pathogenesis of these diseases.
骨髓衰竭综合征由多种罕见疾病组成，这些疾病中存在骨髓造血无效。随后，会出现单一细胞系生成缺失或减少（即单系血细胞减少），或所有细胞系生成缺失或减少（即全血细胞减少）。造血机制以及导致骨髓衰竭的缺陷正逐渐得到更好的理解。本文将综述儿童几种重要骨髓衰竭综合征（范可尼贫血、施-戴综合征、先天性纯红细胞再生障碍性贫血、先天性无巨核细胞性血小板减少症、先天性角化不良和严重先天性中性粒细胞减少症）的遗传和分子基础，以及那些增进我们对这些疾病发病机制理解的最新发现。
