表观盐皮质类固醇激素过多综合征的研究进展

The advances in research of apparent mineralocorticoid excess

表观盐皮质类固醇激素过多综合征(AME)是由于11β-羟化类固醇脱氢酶2(11-βHSD2)缺陷所致的常染色体隐性遗传性疾病。11β-HSD2转化皮质醇为无活性的皮质酮,从而保护醛固酮对盐皮质类固醇激素受体的特异性结合。AME患者,皮质醇大量蓄积,大量激活盐皮质类固醇激素受体,导致水钠潴留,引起严重低肾素性高血压。本文将从基因水平到疾病的诊断治疗进行综述。

Apparent mineralocortieoid excess （AME） is an autosomal recessive disease caused by deficiency of the enzyme of 11 beta-hydroxysteroid dehydrogenase type 2 （ 11 β-HSD2）. 11 β-HSD2 converts cortisol into inactive cortisone and prevents the stimulation of the mineraloeortieoid receptor by eortisol. In patients with AME, an enhanced stimulation of mineraloeortieoid receptors by eortisol in the distal nephron causes an elevated sodium reabsorption and increased potassium excretion. We summarized advances in the diagnosis and treatment of AME from gene to disease in this review.