Dluhy R G, Lifton R P
Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts.
Endocrinol Metab Clin North Am. 1994 Jun;23(2):285-97.
Glucocorticoid-remediable aldosteronism (GRA) is an autosomal-dominant form of human hypertension. In GRA in which aldosterone secretion is positively and solely regulated by ACTH, glucocorticoid administration relieves this mineralocorticoid excess syndrome. Recent studies demonstrate that GRA is caused by a gene duplication fusing regulatory sequences of the steroid 11 beta-hydroxylase gene to the coding sequences of the aldosterone synthase gene. This gene mutation, which results in ectopic expression of aldosterone synthase activity in the zona fasciculata, provides the basis for a simple, direct genetic test for GRA from a small sample of peripheral blood.
糖皮质激素可治性醛固酮增多症（GRA）是一种常染色体显性遗传形式的人类高血压。在醛固酮分泌仅受促肾上腺皮质激素正向调节的GRA中，给予糖皮质激素可缓解这种盐皮质激素过多综合征。最近的研究表明，GRA是由一个基因复制引起的，该复制将类固醇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在一起。这种基因突变导致醛固酮合酶活性在束状带异位表达，为从少量外周血样本中对GRA进行简单、直接的基因检测提供了依据。
