Van Hook J W, Gill P, Cyr D, Kapur R P
Department of Obstetrics and Gynecology, University of Texas Medical Branch, Galveston, USA.
J Reprod Med. 1995 Dec;40(12):850-4.
Diamond-Blackfan anemia is an unusual cause of childhood anemia that results from an absence of bone marrow red cell precursors. To our knowledge, the in utero development of Diamond-Blackfan anemia has been recognized and reported in only two prior instances.
We report the case of a patient who presented with hydrops fetalis during the second trimester of pregnancy. After prenatal evaluation revealed anemia of undetermined etiology, the fetus received intrauterine transfusion therapy. Despite successful treatment of the anemia and hydrops fetalis, in utero renal failure ensued. The infant died neonatally. Postmortem examination of a bone marrow aspirate indicated Diamond-Blackfan anemia as the cause of the hydrops fetalis.
Diamond-Blackfan anemia may be an unrecognized cause of hydrops fetalis. The suboptimal outcome in this case underscores the larger issue of apparently successful treatment of in utero anemia with little or no impact on postnatal survival.
先天性纯红细胞再生障碍性贫血是儿童贫血的一种罕见病因，由骨髓红细胞前体缺乏所致。据我们所知，先天性纯红细胞再生障碍性贫血的宫内发育仅在之前两例中得到确认和报道。
我们报告一例患者，在妊娠中期出现胎儿水肿。产前评估显示病因不明的贫血后，胎儿接受了宫内输血治疗。尽管成功治疗了贫血和胎儿水肿，但随后出现宫内肾衰竭。婴儿出生后死亡。骨髓穿刺的尸检表明先天性纯红细胞再生障碍性贫血是胎儿水肿的病因。
先天性纯红细胞再生障碍性贫血可能是胎儿水肿未被认识的病因。该病例的不良结局凸显了一个更大的问题，即宫内贫血的治疗看似成功，但对出生后生存几乎没有影响。
