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[低肾素性高血压与遗传性盐皮质激素疾病]

[Low-renin hypertension and inherited mineralocorticoid diseases].

作者信息

Kastelan D, Giljević Z, Perković Z, Plavsić V, Breskovac L, Aganović I, Korsić M

机构信息

Klinika za unutrasnje bolesti, Zavod za endokrinologiju KBC Zagreb.

出版信息

Lijec Vjesn. 1999 Jul-Aug;121(7-8):245-9.

Abstract

Liddle's syndrome, apparent mineralocorticoid excess (AME) and glucocorticoid remediable aldosteronism (GRA) are inherited diseases characterized by hypertension and low plasma renin activity. Constitutive activation of distal renal epithelial sodium channel (Liddle's syndrome), defect in 11 beta-hydroxysteroid dehydrogenase activity (AME) and unequal crossing over, fusing regulatory sequences of 11 beta-hydroxylase gene to coding sequences of aldosterone synthase gene and forming a new chimeric gene (GRA), cause apparent or real mineralocorticoid excess. This diseases are often being unrecognized and classified as essential hypertension, especially in patients with normal serum potassium level. Family history of hypertension and characteristic serum and urine++ steroid profile direct us to diagnosis, and genetic analysis will confirm it.

摘要

利德尔综合征、表观盐皮质激素过多症(AME)和糖皮质激素可治性醛固酮增多症(GRA)是遗传性疾病,其特征为高血压和低血浆肾素活性。远端肾上皮钠通道的组成性激活(利德尔综合征)、11β-羟类固醇脱氢酶活性缺陷(AME)以及不等交换,将11β-羟化酶基因的调控序列与醛固酮合酶基因的编码序列融合并形成一个新的嵌合基因(GRA),导致表观或真正的盐皮质激素过多。这些疾病常常未被识别,而被归类为原发性高血压,尤其是在血清钾水平正常的患者中。高血压家族史以及特征性的血清和尿液类固醇谱有助于我们做出诊断,基因分析则可证实诊断。

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