Warnock D G
Department of Medicine, University of Alabama at Birmingham, 35294-0007, USA.
Semin Nephrol. 1999 Jul;19(4):374-80.
The monogenic forms of human hypertension have yielded to the power of modern genetic techniques in the last several years. With the successful expression cloning of the subunits of the epithelial sodium channel, a whole era has evolved in our basic understanding of the low renin forms of human hypertension. Of note, all of these hypertensive syndromes (Liddle's syndrome, glucocorticoid-remediable aldosteronism, and the apparent mineralocorticoid excess syndrome) share an underlying dysregulation of the activity of the epithelial sodium channel in the cortical collecting tubule. Loss of function defects due to mutations in the channel subunits themselves, or in the mineralocorticoid receptor (pseudohypoaldosteronism, type I) also affect blood pressure regulation consequent to renal salt wasting and dysregulation of the epithelial sodium channel in the cortical collecting tubule.
在过去几年中，人类高血压的单基因形式已被现代基因技术攻克。随着上皮钠通道亚基的成功表达克隆，我们对人类低肾素型高血压的基本认识进入了一个全新阶段。值得注意的是，所有这些高血压综合征（利德尔综合征、糖皮质激素可治性醛固酮增多症和表观盐皮质激素过多综合征）都存在皮质集合管上皮钠通道活性的潜在调节异常。通道亚基自身或盐皮质激素受体的突变导致的功能丧失缺陷（Ⅰ型假性醛固酮减少症），也会因肾盐排泄及皮质集合管上皮钠通道调节异常而影响血压调节。
