Pediatric Hematology and Oncology, Pediatric Stem Cell Transplantation Program, University Children's Hospital Wuerzburg, Wuerzburg, Germany.
Pediatr Blood Cancer. 2014 Apr;61(4):743-5. doi: 10.1002/pbc.24786. Epub 2013 Oct 3.
Congenital dyserythropoietic anemias are rare hematological disorders leading to ineffective erythropoiesis with chronic anemia, complicated by iron overload. Here we present a remarkable clinical course of an infant with CDA type II who first presented as a severe fetal hydrops, requiring serial intrauterine red cell transfusions. While postnatal transfusion dependency persisted, the patient was successfully transplanted with a myeloablative conditioning regimen and peripheral blood stem cells of a matched donor. We believe that allogeneic HSCT is a reasonable therapeutic approach for patients with very severe CDA, even if only a matched unrelated donor is available.
先天性红细胞生成不良性贫血是一种罕见的血液系统疾病，导致无效的红细胞生成和慢性贫血，并伴有铁过载。在此，我们报告了一例 CDA II 型婴儿的显著临床病程，该患儿最初表现为严重的胎儿水肿，需要多次宫内红细胞输血。虽然在出生后仍依赖输血，但该患者成功地接受了清髓性预处理方案和匹配供体的外周血造血干细胞移植。我们认为，即使只有匹配的无关供体可用，同种异体 HSCT 也是治疗非常严重 CDA 的合理方法。
