Willig T N, Gazda H, Sieff C A
Département de Pédiatrie et Laboratoire d'Hématologie, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, et Faculté Médicine Paris Sud, France.
Curr Opin Hematol. 2000 Mar;7(2):85-94. doi: 10.1097/00062752-200003000-00003.
Diamond Blackfan anemia is a rare congenital hypoplastic anemia that usually presents early in infancy. Congenital anomalies, in particular of the head and upper limbs, are present in about 25% of reported patients. The disease is characterized by a moderate to severe macrocytic anemia, occasional neutropenia or thrombocytosis, a normocellular bone marrow with erythroid hypoplasia, and an increased risk of developing leukemia. Recent genetic studies have led to the identification of mutations in the ribosomal protein RPS19 in approximately 25% of sporadic and familial cases, a second gene on chromosome 8p, and evidence for an additional locus (or loci). The pathogenesis is unknown. The majority of patients respond to prednisone, and often erythropoiesis can be maintained with low doses of the drug. Both remissions and increased resistance to steroid treatment can occur. Patients who do not respond to treatment are usually transfusion dependent, although responses to high dose steroid, androgen, and interleukin-3 have been observed. Bone marrow transplantation can be curative.
先天性纯红细胞再生障碍性贫血是一种罕见的先天性再生障碍性贫血，通常在婴儿早期出现。约25%的报告患者存在先天性异常，尤其是头部和上肢异常。该疾病的特征为中度至重度大细胞性贫血、偶尔出现中性粒细胞减少或血小板增多、骨髓细胞数量正常但红系发育不全，以及患白血病风险增加。最近的基因研究已在约25%的散发性和家族性病例中发现核糖体蛋白RPS19发生突变，在8号染色体p上发现第二个基因，并发现了另一个位点（或多个位点）的证据。其发病机制尚不清楚。大多数患者对泼尼松有反应，通常低剂量药物即可维持红细胞生成。缓解和对类固醇治疗的耐药性增加均可能发生。对治疗无反应的患者通常依赖输血，不过也观察到对高剂量类固醇、雄激素和白细胞介素-3有反应。骨髓移植可治愈该病。
