Gardner J D, Lapey A, Simopoulos P, Bravo E L
J Clin Invest. 1971 Nov;50(11):2253-8. doi: 10.1172/JCI106722.
We have documented the presence of abnormal sodium transport in Liddle's syndrome by measuring sodium concentration, sodium influx, and fractional sodium outflux in vitro in erythrocytes from normal subjects, two patients with Liddle's syndrome, and one patient with primary hyperaldosteronism. Sodium influx and fractional sodium outflux, but not sodium concentration, were significantly increased in patients with Liddle's syndrome. Sodium outflux in a patient with primary hyperaldosteronism did not differ significantly from normal. These alterations of sodium transport in erythrocytes from patients with Liddle's syndrome were not attributable to circulating levels of aldosterone, renin, angiotensin, or serum potassium. Furthermore, changes in aldosterone secretory rate and levels of circulating renin produced by varying dietary sodium intake, did not alter sodium influx or fractional sodium outflux in either patients with Liddle's syndrome or normal subjects. The response of fractional sodium outflux and sodium influx to ouabain, ethacrynic acid, and to changes in the cation composition of the incubation medium suggests that the increased sodium fluxes in Liddle's syndrome do not result solely from a quantitative increase in those components of sodium transport which occur in normal human erythrocytes. Instead, at least a portion of the increased erythrocyte sodium transport in Liddle's syndrome represents a component of sodium transport which does not occur in normal human erythrocytes.
我们通过在体外测量正常受试者、两名利德尔综合征患者和一名原发性醛固酮增多症患者红细胞中的钠浓度、钠内流和钠外流分数,记录了利德尔综合征中异常钠转运的存在。利德尔综合征患者的钠内流和钠外流分数显著增加,但钠浓度没有变化。原发性醛固酮增多症患者的钠外流与正常情况无显著差异。利德尔综合征患者红细胞中钠转运的这些改变并非归因于醛固酮、肾素、血管紧张素或血清钾的循环水平。此外,通过改变饮食中的钠摄入量所产生的醛固酮分泌率变化和循环肾素水平变化,并未改变利德尔综合征患者或正常受试者的钠内流或钠外流分数。钠外流分数和钠内流对哇巴因、依他尼酸以及孵育培养基阳离子组成变化的反应表明,利德尔综合征中增加的钠通量并非仅仅源于正常人类红细胞中发生的钠转运成分的定量增加。相反,利德尔综合征中红细胞钠转运增加的至少一部分代表了正常人类红细胞中不存在的钠转运成分。