Hsieh C J, Wang P W, Liu J C, Tung S C, Chien W Y, Lu Y C, Kuo M C
Department of Internal Medicine, Chang Gung Memorial Hospital, Kaoshiung, Taiwan, R.O.C.
Changgeng Yi Xue Za Zhi. 1997 Mar;20(1):52-7.
Glucocorticoid remediable aldosteronism (GRA) is a hereditary cause of mineralocorticoid hypertension. The most common presentation is asymptomatic hypertension. Hypokalemia, hyperaldosteronism and suppressed plasma renin activity are other forms of primary hyperaldosteronism. However, the aldosterone secretion in these patients is regulated by adrenocortico-tropic hormone (ACTH) rather than the reninangiotension system. Here, we report a patient with a 12-year history of hypertension without response to any treatment until dexamethasone was administered. The diagnosis of GRA was confirmed by elevated plasma level of 18-oxocortisol, which is a unique steroid biochemical abnormality of this disease. In GRA, hybrid steroids (18-oxocortisol and 18-hydroxycortisol) are synthesized at the C-18 carbon of cortisol in a similar way as when corticosterone is converted to aldosterone. The gene duplication defect is on chromosome 8 codes for a chimerical 11 beta-hydroxylase/aldosterone synthase enzyme, causing ectopic expression of aldosterone synthase in zona fasiculata. Because this hypertension is remediable by exogenous glucocorticoid, this case was reported to raise attention about treatable aldosteronism.
糖皮质激素可治性醛固酮增多症(GRA)是盐皮质激素性高血压的一个遗传性病因。最常见的表现是无症状性高血压。低钾血症、醛固酮增多症和血浆肾素活性受抑制是原发性醛固酮增多症的其他形式。然而,这些患者的醛固酮分泌是由促肾上腺皮质激素(ACTH)而非肾素 - 血管紧张素系统调节的。在此,我们报告一名有12年高血压病史的患者,在给予地塞米松之前对任何治疗均无反应。血浆18 - 氧皮质醇水平升高证实了GRA的诊断,18 - 氧皮质醇是该疾病独特的类固醇生化异常指标。在GRA中,杂合类固醇(18 - 氧皮质醇和18 - 羟皮质醇)在皮质醇的C - 18碳位合成,其方式类似于皮质酮转化为醛固酮的过程。基因重复缺陷位于8号染色体上,编码一种嵌合的11β - 羟化酶/醛固酮合酶,导致醛固酮合酶在束状带异位表达。由于这种高血压可通过外源性糖皮质激素治疗,故报告此病例以提高对可治性醛固酮增多症的关注。