McMahon Graham T, Dluhy Robert G
Division of Endocrinology, Diabetes & Hypertension, Brigham & Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Arq Bras Endocrinol Metabol. 2004 Oct;48(5):682-6. doi: 10.1590/s0004-27302004000500014. Epub 2005 Mar 7.
Glucocorticoid-remediable aldosteronism (GRA) is a monogenic form of human hypertension that predisposes to cerebral hemorrhage. As a result of a chimeric gene duplication, aldosterone is ectopically synthesized in the cortisol-secreting zona fasciculata of the adrenal gland under the control of adrenocorticotropin (ACTH). Hypertension frequently has its onset during childhood and is usually refractory to standard anti-hypertensives such as ACE inhibitors and beta-blockers. Hypokalemia can develop in those treated with a potassium-wasting diuretic, but random potassium levels are usually normal. Diagnosis has been facilitated by the availability of a genetic test. Suppression of ACTH release with exogenous dexamethasone is a useful diagnostic and therapeutic strategy. Treatment with the mineralocorticoid receptor antagonists spironolactone and epleronone is also efficacious. The diagnosis of GRA facilitates directed therapies and screening of at-risk individuals and kindreds.
糖皮质激素可治性醛固酮增多症(GRA)是一种导致脑出血的单基因形式的人类高血压。由于嵌合基因复制,醛固酮在促肾上腺皮质激素(ACTH)的控制下于肾上腺分泌皮质醇的束状带异位合成。高血压常于儿童期发病,通常对标准抗高血压药如ACE抑制剂和β受体阻滞剂无效。使用排钾利尿剂治疗的患者可出现低钾血症,但随机血钾水平通常正常。基因检测有助于诊断。外源性地塞米松抑制ACTH释放是一种有用的诊断和治疗策略。使用盐皮质激素受体拮抗剂螺内酯和依普利酮治疗也有效。GRA的诊断有助于进行针对性治疗以及对高危个体和亲属进行筛查。