Shinohara T, Miyamura S, Suzuki E, Kobayashi K
Eur J Pediatr. 1982 Mar;138(2):191-3. doi: 10.1007/BF00441153.
A 4-year-old Japanese girl had hemolytic anemia, thrombocytopenia, distorted and fragmented red cells in the peripheral blood, and megakaryocytosis in the bone marrow from the newborn period. These features were temporarily relieved and prevented by the infusion of fresh frozen plasma from healthy donors. This would indicate a deficiency in the patient's plasma of factor(s) that inhibit platelet aggregation in the blood vessels. An attempt to demonstrate possible in vitro deficiency of the platelet aggregation-prohibiting factor in the patient's plasma was unsuccessful. Laboratory examinations ruled out red cell fragility, abnormalities of red cell enzymes, abnormal hemoglobins, or immune reaction as underlying mechanisms. Our patient, together with three other patients in the literature with similar clinical features, may constitute a clinical entity that could be called "congenital microangiopathic hemolytic anemia".
一名4岁日本女孩自新生儿期起就患有溶血性贫血、血小板减少症，外周血中红细胞变形且破碎，骨髓中巨核细胞增多。这些症状通过输注健康供体的新鲜冷冻血浆得到了暂时缓解和预防。这表明该患者血浆中缺乏抑制血管内血小板聚集的因子。试图证明患者血浆中可能存在体外血小板聚集抑制因子缺乏的尝试未成功。实验室检查排除了红细胞脆性、红细胞酶异常、异常血红蛋白或免疫反应作为潜在机制。我们的患者，连同文献中其他三名具有类似临床特征的患者，可能构成一种可称为“先天性微血管病性溶血性贫血”的临床实体。
