Freedman M H, Saunders E F
Blood. 1978 Jun;51(6):1125-8.
The profound anemia of Diamond-Blackfan syndrome (DBS) is due to marrow red cell failure, but the pathogenesis is not understood. Studies by others indicated cell-mediated erythropoietic suppression in this condition. To explore this mechanism further, Ficoll-Hypaque--separated peripheral blood lymphocytes (PBL) from four anemic untreated patients with DBS, or from normals were cocultured with control marrow in vitro and the growth of erythropoietin-responsive stem cell colonies (CFU-E) was dermined. CFU-E numbers obtained from cultures with added normal PBL were not significantly different from the number without PBL. Similarly, CFU-E from cultures with added DBS PBL were not significantly different from the number without PBL (215 versus 220, 229 versus 220 and 84 versus 60, 74 versus 94/10(5) cells, respectively). Mixing marrows from a control and one DBS patient in ratios of 2:1, 1:1, or 1:2 prior to culture failed to disclose a decrease of colony growth. We could not show cellular inhibition of erythropoiesis in these patients with DBS. The mechanism of anemia in this disorder remains an open question.
戴蒙德-布莱克范综合征（DBS）的严重贫血是由于骨髓红细胞生成衰竭，但发病机制尚不清楚。其他人的研究表明，在这种情况下存在细胞介导的红细胞生成抑制。为了进一步探讨这一机制，将来自4名未经治疗的贫血DBS患者或正常人的经Ficoll-Hypaque分离的外周血淋巴细胞（PBL）与对照骨髓在体外共培养，并测定促红细胞生成素反应性干细胞集落（CFU-E）的生长情况。添加正常PBL的培养物中获得的CFU-E数量与未添加PBL的数量无显著差异。同样，添加DBS PBL的培养物中的CFU-E数量与未添加PBL的数量也无显著差异（分别为215对220、229对220以及84对60、74对94/10⁵个细胞）。在培养前将对照和一名DBS患者的骨髓按2:1、1:1或1:2的比例混合，未发现集落生长减少。我们未能在这些DBS患者中显示出红细胞生成的细胞抑制作用。这种疾病贫血的机制仍然是一个悬而未决的问题。
