Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany.
Division of Endocrinology, Metabolism and Nutrition, Department of Internal Medicine, Mayo Clinic, Rochester, MN, USA.
Lancet Diabetes Endocrinol. 2021 Dec;9(12):876-892. doi: 10.1016/S2213-8587(21)00210-2.
Primary aldosteronism is a common cause of secondary hypertension associated with excess cardiovascular morbidities. Primary aldosteronism is underdiagnosed because it does not have a specific, easily identifiable feature and clinicians can be poorly aware of the disease. The diagnostic investigation is a multistep process of screening, confirmatory testing, and subtype differentiation of unilateral from bilateral forms for therapeutic management. Adrenal venous sampling is key for reliable subtype identification, but can be bypassed in patients with specific characteristics. For unilateral disease, surgery offers the possibility of cure, with total laparoscopic unilateral adrenalectomy being the treatment of choice. Bilateral forms are treated mainly with mineralocorticoid receptor antagonists. The goals of treatment are to normalise both blood pressure and excessive aldosterone production, and the primary aims are to reduce associated comorbidities, improve quality of life, and reduce mortality. Prompt diagnosis of primary aldosteronism and the use of targeted treatment strategies mitigate aldosterone-specific target organ damage and with appropriate patient management outcomes can be excellent. Advances in molecular histopathology challenge the traditional concept of primary aldosteronism as a binary disease, caused by either a unilateral aldosterone-producing adenoma or bilateral adrenal hyperplasia. Somatic mutations drive autonomous aldosterone production in most adenomas. Many of these same mutations have been identified in nodular lesions adjacent to an aldosterone-producing adenoma and in patients with bilateral disease. In addition, germline mutations cause rare familial forms of aldosteronism (familial hyperaldosteronism types 1-4). Genetic testing for inherited forms in suspected cases of familial hyperaldosteronism avoids the burdensome diagnostic investigation in positive patients. In this Review, we discuss advances and future management approaches in the diagnosis of primary aldosteronism.
原醛症是一种常见的与心血管发病率增加相关的继发性高血压病因。原醛症的诊断率较低，原因在于其缺乏特征性的、易于识别的表现，临床医生对该病的认识也较为欠缺。诊断性检查是一个多步骤的过程，包括筛查、确诊检测以及单侧与双侧形式的亚型区分，以进行治疗管理。肾上腺静脉采样是可靠的亚型鉴别的关键，但对于具有特定特征的患者可以绕过该步骤。对于单侧疾病，手术提供了治愈的可能性，而全腹腔镜单侧肾上腺切除术是首选的治疗方法。双侧形式主要采用盐皮质激素受体拮抗剂治疗。治疗的目标是使血压和过量的醛固酮生成恢复正常，主要目标是降低相关的合并症、改善生活质量和降低死亡率。及时诊断原醛症并采用针对性的治疗策略可以减轻醛固酮特异性靶器官损伤，通过适当的患者管理，治疗效果可以非常好。分子组织病理学的进展挑战了原醛症作为一种二元疾病的传统概念，即由单侧醛固酮分泌腺瘤或双侧肾上腺增生引起。体细胞突变驱动大多数腺瘤中自主的醛固酮生成。这些相同的突变在与醛固酮分泌腺瘤相邻的结节性病变中和双侧疾病患者中都有发现。此外，种系突变导致罕见的家族性醛固酮增多症（家族性醛固酮增多症 1-4 型）。在疑似家族性醛固酮增多症的病例中进行遗传性形式的基因检测，可以避免在阳性患者中进行繁琐的诊断性检查。在这篇综述中，我们讨论了原醛症诊断方面的进展和未来的管理方法。
