Diamond-Blackfan syndrome in adult patients.
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.
D000328:Adult; D000368:Aged; D000740:Anemia / Q000097:blood / Q000151:congenital* / Q000628:therapy; D001803:Blood Transfusion; D001853:Bone Marrow / Q000473:pathology; D004906:Erythrocyte Count; D017707:Erythrocyte Transfusion; D005260:Female; D006454:Hemoglobins / Q000032:analysis; D006801:Humans; D011241:Prednisone / Q000627:therapeutic use; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000151:congenital*; D012010:Red-Cell Aplasia, Pure / Q000151:congenital* / Q000628:therapy; D012156:Reticulocytes
D006454:Hemoglobins; D011241:Prednisone