de la Serna F J, Gilsanz F, Ricard P, Urrutia A
Med Clin (Barc). 1989 Oct 7;93(10):380-2.
Congenital pyrimidin 5'nucleotidase deficiency manifests as hemolytic anemia with basophilic stippling. In lead poisoning, anemia, basophilic stippling and inhibition of erythrocyte pyrimidin 5' deficiency are also observed. In the present work, we report two cases of hemolytic anemia secondary to congenital deficiency of pyrimidin 5' nucleotidase and another case secondary to lead poisoning. Since 1974, when pyrimidin 5' nucleotidase deficiency was isolated, is known that hemolysis is related to the accumulation of pyrimidin nucleotides within the erythrocytes that behave as metabolic inhibitors. However, the precise metabolic process whose inhibition leads to the shortening of erythrocytes half life has not been elucidated yet.
先天性嘧啶5'核苷酸酶缺乏表现为伴有嗜碱性点彩的溶血性贫血。在铅中毒时，也会观察到贫血、嗜碱性点彩以及红细胞嘧啶5'缺乏的抑制。在本研究中，我们报告了2例继发于先天性嘧啶5'核苷酸酶缺乏的溶血性贫血病例以及另1例继发于铅中毒的病例。自1974年嘧啶5'核苷酸酶缺乏被分离出来后，已知溶血与红细胞内作为代谢抑制剂的嘧啶核苷酸的积累有关。然而，其抑制导致红细胞半衰期缩短的精确代谢过程尚未阐明。
