Charoensri Suranut, Auchus Richard J
Division of Endocrinology and Metabolism, Department of Medicine, Faculty of Medicine, Khon Kaen University, Khon Kaen 40002, Thailand.
Division of Metabolism, Endocrinology, and Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109, United States.
Eur J Endocrinol. 2023 Nov 8;189(5):R11-R22. doi: 10.1093/ejendo/lvad140.
Congenital forms of endocrine hypertension are rare and potentially life-threatening disorders, primarily caused by genetic defects affecting adrenal steroid synthesis and activation pathways. These conditions exhibit diverse clinical manifestations, which can be distinguished by their unique molecular mechanisms and steroid profiles. Timely diagnosis and customized management approach are crucial to mitigate unfavorable outcomes associated with uncontrolled hypertension and other related conditions. Treatment options for these disorders depend on the distinct underlying pathophysiology, which involves specific pharmacological therapies or surgical adrenalectomy in some instances. This review article summarizes the current state of knowledge on the therapeutic management of congenital forms of endocrine hypertension, focusing on familial hyperaldosteronism (FH), congenital adrenal hyperplasia, apparent mineralocorticoid excess, and Liddle syndrome. We provide an overview of the genetic and molecular pathogenesis underlying each disorder, describe the clinical features, and discuss the various therapeutic approaches available and their risk of adverse effects, aiming to improve outcomes in patients with these rare and complex conditions.
先天性内分泌性高血压较为罕见,是潜在的危及生命的疾病,主要由影响肾上腺类固醇合成和激活途径的基因缺陷引起。这些病症表现出多样的临床表现,可通过其独特的分子机制和类固醇谱加以区分。及时诊断和定制化管理方法对于减轻与未控制的高血压及其他相关病症相关的不良后果至关重要。这些疾病的治疗选择取决于独特的潜在病理生理学,在某些情况下涉及特定的药物治疗或手术肾上腺切除术。这篇综述文章总结了先天性内分泌性高血压治疗管理的当前知识状况,重点关注家族性醛固酮增多症(FH)、先天性肾上腺增生、表观盐皮质激素过多症和利德尔综合征。我们概述了每种疾病的遗传和分子发病机制,描述了临床特征,并讨论了可用的各种治疗方法及其不良反应风险,旨在改善这些罕见且复杂病症患者的治疗效果。