先天性非球形细胞溶血性贫血(CNSHA)最常见的原因之一是红细胞丙酮酸激酶(PK)缺乏。多数PK缺乏病例有ATP水平降低,但在一些病例中,PK活力的降低与ATP水平的增高有关。因ATP是PK强烈的负反馈物质,故曾经提出这种PK活力的降低是由于红细胞原发性ATP酶缺乏、ATP水平增高所致的继发结果。作者为证明此见解,并比较CNSHA的两种变种(原发性PK缺乏和原发性ATP酶(Mg~(++)缺乏)与PK缺乏相关的若干代谢作用,乃进行本研究。作者对二例PK活力降低的CNSHA患者K.W(原发性PK缺乏)和O.M.(原发性ATP One of the most common causes of congenital non-spherical hemolytic anemia (CNSHA) is erythrocyte pyruvate kinase (PK) deficiency. In most cases of PK deficiency there is a decrease in ATP levels, but in some cases the reduction in PK activity is associated with an increase in ATP levels. Because ATP is a potent negative feedback material for PK, it has been proposed that this decrease in PK viability is a secondary result of increased ATP levels due to a deficiency of erythrocyte primary ATPase. To demonstrate this and to compare several metabolic effects associated with PK deficiency in two variants of CNSHA (primary PK deficiency and primary ATPase deficiency (Mg ~ (++)), we performed this study. Two patients with CNSHA with reduced PK activity had KW (primary PK deficiency) and OM (primary ATP