Lipton J M, Kudisch M, Gross R, Nathan D G
Blood. 1986 Apr;67(4):962-8.
To explore the etiology of congenital hypoplastic or Diamond-Blackfan anemia (DBA) we investigated in vitro erythropoiesis in nine patients. Of the nine, seven were clinically responsive to prednisone. Four were infants evaluated at the time of diagnosis. Six were never or were only minimally transfused. Those for whom prednisone had been prescribed had discontinued the drug a minimum of five months prior to study. The bone marrows of these nine patients were compared with those of hematologically normal individuals and with those of four patients with transient erythroblastopenia of childhood (TEC) whose erythroid aplasia was as severe as that of the patients with DBA. Using the plasma clot semisolid culture technique to enumerate erythroid progenitors and to evaluate the growth characteristics of the colonies to which they give rise, we concluded that at the onset of DBA: (a) erythroid progenitor frequency does not correlate with the degree of anemia and erythroblastopenia; (b) erythroid progenitor differentiation may in some cases be abnormally insensitive to crude preparations of erythropoietin; and (c) progenitor erythropoietin insensitivity in vitro does not necessarily indicate prednisone insensitivity in vivo. Thus, DBA does not appear to be solely the result of deficient formation of erythroid progenitors but is, in addition, a disorder that is due to defective progenitor differentiation in vivo.
为探究先天性发育不全或先天性纯红细胞再生障碍性贫血（DBA）的病因，我们对9例患者的体外红细胞生成情况进行了研究。这9例患者中，7例对泼尼松治疗有临床反应。4例为诊断时接受评估的婴儿。6例从未接受输血或仅接受过少量输血。那些已开具泼尼松处方的患者在研究前至少已停药5个月。将这9例患者的骨髓与血液学正常个体的骨髓以及4例儿童暂时性红细胞生成减少症（TEC）患者的骨髓进行比较，这些TEC患者的红系造血停滞与DBA患者一样严重。使用血浆凝块半固体培养技术来计数红系祖细胞并评估它们所形成集落的生长特性，我们得出结论，在DBA发病时：（a）红系祖细胞频率与贫血程度和幼红细胞减少程度无关；（b）红系祖细胞分化在某些情况下可能对促红细胞生成素粗制品异常不敏感；（c）体外祖细胞对促红细胞生成素不敏感并不一定表明体内对泼尼松不敏感。因此，DBA似乎并非仅仅是红系祖细胞生成不足的结果，此外，它还是一种由于体内祖细胞分化缺陷导致的病症。
