案例#1
一名 54 岁男性患者具有 10 年的高血压病史,一直很难用降压药来控制其高血压。他的症状包括频繁头痛、尿频(每晚 3-4 次)和困倦。他没有其他疾病或既往病史。除血压 (BP) 高达 160/96 mmHg 之外,其体格检查结果无特殊。血浆电解质是正常的。
案例#2
一名 28 岁女性具有 2 年高血压病史,并伴有尿频(每夜 4~5 次)、多尿、心悸、肢体感觉异常、困倦和全身肌无力。她没有其他既往病史。除血压高达 160/100 mmHg、全身反射减弱和肌无力之外,其体格检查结果无特殊。血浆钾水平为 2.2 mmol/L (2.2 mEq/L),碳酸氢盐为 34 mmol/L (34 mEq/L),血清肌酐正常。
其他表现
PA 中的高血压可能为轻度或重度的,少见恶性。[3]Gordon RD, Stowasser M, Klemm SA, et al. Primary aldosteronism and other forms of mineralocorticoid hypertension. In: Swales JD, ed. Textbook of hypertension. London: Blackwell Scientific; 1994:865-892.[14]Murphy BF, Whitworth JA, Kincaid-Smith PA. Malignant hypertension due to an aldosterone-producing adenoma. Clin Exp Hypertens A. 1985;7:939-950.http://www.ncbi.nlm.nih.gov/pubmed/3899416?tool=bestpractice.com在醛固酮生成腺瘤或双侧肾上腺增生患者中,血压水平的变化很大,无法通过血压来鉴别这些亚型。[15]Vetter H, Siebenschein R, Studer A, et al. Primary aldosteronism: inability to differentiate unilateral from bilateral adrenal lesions by various routine clinical and laboratory data and by peripheral plasma aldosterone. Acta Endocrinol (Copenh). 1978;89:710-725.http://www.ncbi.nlm.nih.gov/pubmed/213920?tool=bestpractice.com在 家族性醛固酮增多症I型 (FH-I) 中,高血压尤其是在女性中往往发生较晚,但可具有早发性且严重程度足以引起早期死亡的高血压,通常死于出血性卒中。[16]Stowasser M, Gartside MG, Gordon RD. A PCR-based method of screening individuals of all ages, from neonates to the elderly, for familial hyperaldosteronism type I. Aust N Z J Med. 1997;27:685-690.http://www.ncbi.nlm.nih.gov/pubmed/9483237?tool=bestpractice.com[17]Rich GM, Ulick S, Cook S, et al. Glucocorticoid-remediable aldosteronism in a large kindred: clinical spectrum and diagnosis using a characteristic biochemical phenotype. Ann Intern Med. 1992;116:813-820.http://www.ncbi.nlm.nih.gov/pubmed/1567095?tool=bestpractice.com 对 FH-I 和家族性醛固酮增多症 II 型 (FH-II) 的家族筛查显示,具有高度多样化的表型,某些患者血压正常,与 PA 从临床前期进展而来一致。[5]Gordon RD, Stowasser M, Klemm SA, et al. Primary aldosteronism: some genetic, morphological, and biochemical aspects of subtypes. Steroids. 1995;60:35-41.http://www.ncbi.nlm.nih.gov/pubmed/7792813?tool=bestpractice.com[10]Gordon RD, Stowasser M. Familial forms broaden horizons in primary aldosteronism. Trends Endocrinol Metab. 1998;9:220-227.[18]Stowasser M, Gordon RD. Familial hyperaldosteronism. J Steroid Biochem Mol Biol. 2001;78:215-229.http://www.ncbi.nlm.nih.gov/pubmed/11595502?tool=bestpractice.com[19]Stowasser M, Gordon RD. Primary aldosteronism: from genesis to genetics. Trends Endocrinol Metab. 2003;14:310-317.http://www.ncbi.nlm.nih.gov/pubmed/12946873?tool=bestpractice.com[17]Rich GM, Ulick S, Cook S, et al. Glucocorticoid-remediable aldosteronism in a large kindred: clinical spectrum and diagnosis using a characteristic biochemical phenotype. Ann Intern Med. 1992;116:813-820.http://www.ncbi.nlm.nih.gov/pubmed/1567095?tool=bestpractice.com[20]Stowasser M, Huggard PJ, Rossetti TR, et al. Biochemical evidence of aldosterone overproduction and abnormal regulation in normotensive individuals with familial hyperaldosteronism type I. J Clin End Metab. 1999;84:4031-4036.[21]Stowasser M. New perspectives in the role of aldosterone excess in cardiovascular disease. Clin Exp Pharmacol Physiol. 2001;28:783-791.http://www.ncbi.nlm.nih.gov/pubmed/11553016?tool=bestpractice.com只有不到四分之一的 PA 患者和不到一半的醛固酮生成腺瘤患者患低钾血症。[3]Gordon RD, Stowasser M, Klemm SA, et al. Primary aldosteronism and other forms of mineralocorticoid hypertension. In: Swales JD, ed. Textbook of hypertension. London: Blackwell Scientific; 1994:865-892.[22]Gordon RD, Rutherford JC, Stowasser M. Primary aldosteronism: are we diagnosing and operating on too few patients? World J Surg. 2001;25:941-947.http://www.ncbi.nlm.nih.gov/pubmed/11572036?tool=bestpractice.com[23]Stowasser M, Gordon RD. Primary aldosteronism: careful investigation is essential and rewarding. Mol Cell Endocrinol. 2004;217:33-39.http://www.ncbi.nlm.nih.gov/pubmed/15134798?tool=bestpractice.com在这些患者中,除非对肾素和醛固酮进行测定,否则无法鉴别 PA 与原发性高血压。当发生低钾血症时,它可能表现为夜尿、多尿、肌无力、抽筋、感觉异常和/或心悸。即使不存在低钾血症,夜尿也十分常见。血钾正常或充血的患者常有的其他症状包括头痛、困倦、情绪变化(包括易怒、焦虑或抑郁)和精神集中受损。妊娠期间,高血压和这些症状可能会改善。这被认为是由于高循环水平胎盘孕酮的抗盐皮质激素作用所致,即作用于盐皮质激素受体拮抗醛固酮作用。