Bader-Meunier Brigitte, Leverger Guy, Tchernia Gil, Schischmanoff Olivier, Cynober Thérèse, Bernaudin Françoise, Leblanc Thierry, Munzer Martine, Roda Laurent, Soler Christine, Thuret Isabelle, Delaunay Jean
Department of Pediatrics and French Center for Inherited Erythrocyte and Erythropoiesis Disorders, Hôpital de Bicêtre, Assistance Publique-Hôpitaux de Paris, Le Kremlin Bicêtre, France.
J Pediatr Hematol Oncol. 2005 Aug;27(8):416-9. doi: 10.1097/01.mph.0000175406.42427.c9.
Congenital dyserythropoietic anemia type I (CDA I) is a rare disorder of erythropoiesis. The objective of this study was to describe the clinical and laboratory manifestations, the diagnosis procedure, the therapeutic approaches and outcome in CDA I. The 12 patients included belong to the retrospective French Multicenter Study. Clinical and biologic data were compiled. Biologic tests included light and, in some cases, electron microscopy, ektacytometry, and red cell membrane protein electrophoresis. Neonatal manifestations (anemia, early jaundice, and/or splenomegaly) and bone abnormalities were present in 11 of the 12 and 6 of the 12 patients, respectively. CDA I was initially misdiagnosed in four children. By the time of diagnosis, anemia with reticulocytosis lower than expected in a hemolytic anemia was present in all patients. Bone marrow electron microscopy examination revealed characteristic findings in all nine children. Red cell membrane protein 4.1 was reduced in all five children. At least one transfusion was required in 11 of the 12 children. Interferon alpha2 corrected anemia in the three children who received monthly transfusions. CDA I is commonly misdiagnosed in children. It should be sought in patients with unexplained chronic anemia, especially when associated with neonatal manifestations, jaundice, splenomegaly, subnormal or low reticulocytosis, and congenital bone malformations.
I型先天性红细胞生成异常性贫血（CDA I）是一种罕见的红细胞生成障碍性疾病。本研究的目的是描述CDA I的临床和实验室表现、诊断程序、治疗方法及预后。纳入的12例患者来自法国多中心回顾性研究。收集了临床和生物学数据。生物学检测包括光学显微镜检查，部分病例还进行了电子显微镜检查、红细胞变形性测定及红细胞膜蛋白电泳。12例患者中有11例出现新生儿期表现（贫血、早期黄疸和/或脾肿大），12例中有6例存在骨骼异常。4例儿童CDA I最初被误诊。确诊时，所有患者均有贫血伴网织红细胞增多，低于溶血性贫血预期水平。9例儿童的骨髓电子显微镜检查均发现特征性表现。5例儿童的红细胞膜蛋白4.1均减少。12例儿童中有11例至少需要输血一次。接受每月输血的3例儿童使用α2干扰素后贫血得到纠正。CDA I在儿童中常被误诊。对于不明原因的慢性贫血患者，尤其是伴有新生儿期表现、黄疸、脾肿大、网织红细胞计数低于正常或偏低以及先天性骨骼畸形的患者，应考虑该病。
