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先天性再生低下性贫血又称Diamond-Blackfan综合征(DBS),特点是在婴儿期出现再生低下性巨红细胞贫血。DBS病因不明,但新近证明为红系干细胞的缺陷。本文报告DBS患者红细胞嘌呤代谢旁路的生化异常,特别是嘌呤补救旁路的一个必需酶腺苷脱氨酶(ADA)活性增高。全血标本采自50名健康正常人,12例DBS,5例获得性再障,3例Fanconi再生低下性贫血,1例获得性纯红细胞再障,5例儿童暂时性成红细胞减少症和18例遗传性溶血性贫血患者,7例DBS患者的15名亲
Congenital hypothyroidism Aplastic anemia, also known as Diamond-Blackfan syndrome (DBS), is characterized by the emergence of low-grade reproductive anemia in infancy. The etiology of DBS is unknown but has recently been demonstrated to be a defect of erythroid stem cells. This article reports the biochemical abnormalities of the erythrocyte purine metabolic bypass in patients with DBS, in particular an increase in adenosine deaminase (ADA), an essential enzyme in the purine salvage bypass. Whole blood samples were collected from 50 healthy individuals, 12 DBS, 5 acquired aplastic anemia, 3 Fanconi aplastic anemia, 1 acquired pure red cell aplasia, 5 children with transient erythrocytosis and 18 Hereditary hemolytic anemia patients, seven patients with DBS 15 pro