Willig T N, Ball S E, Tchernia G
Laboratoire d'Hematologie, Centre Hospitalier Bicêtre, Le Kremlin-Bicêtre, France.
Curr Opin Hematol. 1998 Mar;5(2):109-15. doi: 10.1097/00062752-199803000-00005.
Diamond-Blackfan anemia, although rare, has been the focus of much attention with respect to both its clinical features and the characterization of the in vitro erythroid defect. Despite this, its pathophysiology is still unclear, and the treatment of steroid-refractory patients is still unsatisfactory. The recent chromosomal localization of a gene for familial Diamond-Blackfan anemia represents an important step forward toward the elucidation of this disorder. Therapeutic advances will depend on the development of collaborative studies, employing consensus criteria for diagnosis and response to therapy.
先天性纯红细胞再生障碍性贫血虽然罕见，但因其临床特征和体外红系缺陷的特征一直备受关注。尽管如此，其病理生理学仍不清楚，对类固醇难治性患者的治疗仍不尽人意。最近家族性先天性纯红细胞再生障碍性贫血基因的染色体定位是阐明这种疾病的重要一步。治疗进展将取决于合作研究的开展，采用诊断和治疗反应的共识标准。
