Boivin P, Ottenwaelter T
Nouv Presse Med. 1982 Mar 13;11(12):917-9.
Published retrospective studies seem to indicate that neonatal haemolytic anaemia due to erythrocyte pyruvate kinase deficiency is followed by severe chronic haemolysis. In the present study 13 children from 11 different families, who developed haemolytic anaemia associated with pyruvate kinase deficiency during the first hours of life were followed up for periods of 1 to 10 years. In 4 children all signs of haemolysis disappeared within less than 6 months; genetic studies showed that they were heterozygous for the congenital deficiency. Among the remaining 9 children, all double heterozygous, 4 developed moderate, well tolerated haemolysis which did not require blood transfusions or splenectomy; 5 remained severely anaemic and required repeated transfusions and, in 3 cases, splenectomy. During the neonatal period there was no clinical, haematological or biological evidence that the prognosis would be different in these three groups of children. Only the genetic studies separated those who were simple heterozygous from the others. That only 5 of 13 children had severe chronic evolutive haemolytic anaemia suggests that the poor prognosis of neonatal haemolytic jaundice due to pyruvate kinase deficiency should be reconsidered.
已发表的回顾性研究似乎表明，红细胞丙酮酸激酶缺乏所致的新生儿溶血性贫血会继发严重的慢性溶血。在本研究中，对来自11个不同家庭的13名儿童进行了随访，这些儿童在出生后的最初数小时内出现了与丙酮酸激酶缺乏相关的溶血性贫血，随访时间为1至10年。4名儿童的所有溶血迹象在不到6个月内消失；基因研究表明，他们为先天性缺乏的杂合子。在其余9名均为双重杂合子的儿童中，4名出现了中度且耐受性良好的溶血，无需输血或脾切除术；5名仍严重贫血，需要反复输血，3例需要进行脾切除术。在新生儿期，没有临床、血液学或生物学证据表明这三组儿童的预后会有所不同。只有基因研究将单纯杂合子与其他儿童区分开来。13名儿童中只有5名患有严重的慢性进行性溶血性贫血，这表明丙酮酸激酶缺乏所致新生儿溶血性黄疸的不良预后应重新考虑。
