Balaban E P, Buchanan G R, Graham M, Frenkel E P
Am J Med. 1985 Mar;78(3):533-8. doi: 10.1016/0002-9343(85)90352-3.
Two adults with pure red cell aplasia are described. No extrinsic etiologic mechanisms were identified. Evidence of anemia was long-standing and varied in severity. Musculoskeletal abnormalities (webbed neck, Sprengel's and Klippel-Feil deformities, and hand abnormalities) were similar to those seen in the congenital form of red cell aplasia (Diamond-Blackfan syndrome). As in the congenital variety, adrenal cortical steroids resulted in hematologic repair. These observations suggest that congenital (Diamond-Blackfan) pure red cell aplasia may be first recognized in adulthood and that steroids provide a potential therapeutic modality.
本文描述了两名患有纯红细胞再生障碍性贫血的成年人。未发现外在病因机制。贫血证据长期存在且严重程度各异。肌肉骨骼异常（蹼颈、先天性高肩胛症和颈椎融合畸形以及手部异常）与先天性红细胞再生障碍性贫血（戴蒙德-黑凡综合征）所见相似。与先天性类型一样，肾上腺皮质类固醇导致血液学修复。这些观察结果表明，先天性（戴蒙德-黑凡）纯红细胞再生障碍性贫血可能在成年期首次被识别，且类固醇提供了一种潜在的治疗方式。
