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先天性非球形红细胞溶血性贫血(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,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活力的降低是红细胞内原发性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的两种变异型——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。作者对两例PK活力降低的CNSHA患者K.W.
One of the most common causes of congenital non-spherical red blood cell 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 of PK activity is associated with an increase in ATP levels. Because ATP is a strongly negative feedback substance of PK, it has been proposed that this reduction of PK activity is a secondary result of the lack of ATPase in the erythrocytes and the increase of ATP levels. In support of this finding, the authors compared two variants of CNSHA - primary PK deficiency and lack of primary ATPase (Mg ~ (++)) - a number of metabolic effects associated with PK deficiency. The author of two patients with reduced PK activity of CNSHA patients K.W.