Endocrine Research Unit, Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Ziemssenstrasse 1, D-80336 Munich, Germany.
Eur J Endocrinol. 2013 Apr 24;168(6):R85-93. doi: 10.1530/EJE-13-0263. Print 2013 Jun.
Arterial hypertension is a major cardiovascular risk factor that affects between 10 and 40% of the population in industrialized countries. Primary aldosteronism (PA) is the most common form of secondary hypertension with an estimated prevalence of around 10% in referral centers and 4% in a primary care setting. Despite its high prevalence until recently, the underlying genetic and molecular basis of this common disease had remained largely obscure. Over the past decade, a number of insights have been achieved that have relied on in vitro cellular systems, wild-type and genetically modified in vivo models, as well as clinical studies in well-characterized patient populations. This progress has been made possible by a number of independent technical developments including that of specific hormone assays that allow measurement in small sample volumes as well as genetic techniques that enable high-throughput sequencing of a large number of samples. Furthermore, animal models have provided important insights into the physiology of aldosterone regulation that have served as a starting point for investigation of mechanisms involved in autonomous aldosterone secretion. Finally, national and international networks that have built up registries and biobanks have been instrumental in fostering translational research endeavors in PA. Therefore, it is to be expected that in the near future, further pathophysiological mechanisms that result in autonomous aldosterone secretion will be unraveled.
动脉高血压是一种主要的心血管风险因素，影响着工业化国家 10%至 40%的人口。原发性醛固酮增多症（PA）是最常见的继发性高血压形式，在转诊中心的患病率约为 10%，在初级保健环境中的患病率约为 4%。尽管直到最近，这种常见疾病的潜在遗传和分子基础在很大程度上仍然不为人知，但在过去的十年中，已经取得了一些认识，这些认识依赖于体外细胞系统、野生型和基因修饰的体内模型，以及在特征明确的患者群体中进行的临床研究。这一进展得益于一些独立的技术发展，包括能够在小样本量中测量的特定激素检测技术，以及能够对大量样本进行高通量测序的遗传技术。此外，动物模型为醛固酮调节的生理学提供了重要的见解，这些见解为研究自主醛固酮分泌所涉及的机制提供了起点。最后，建立了登记处和生物库的国家和国际网络，为 PA 的转化研究努力提供了帮助。因此，可以预期，在不久的将来，将揭示导致自主醛固酮分泌的进一步病理生理机制。
