Lenzini Livia, Rossi Gian Paolo
Dept. of Medicine-DIMED, Internal Medicine 4, University of Padova, Italy.
Dept. of Medicine-DIMED, Internal Medicine 4, University of Padova, Italy.
Curr Opin Pharmacol. 2015 Apr;21:35-42. doi: 10.1016/j.coph.2014.12.005. Epub 2014 Dec 30.
Primary aldosteronism (PA) is the most common endocrine cause of high blood pressure. Only a minority of the PA cases are familial and due to known (CYP11B2/CYP11B1 chimeric gene or mutations in the KCNJ5 gene) or unknown causes. In the most common sporadic cases the mechanisms by which the excess aldosterone production persists in spite of high blood pressure, sodium retention, suppression of the renin angiotensin system and low potassium levels, all factors that by themselves would be expected to shut off aldosterone production, were a puzzle for decades. Only recently the discovery of functional mutations and down-regulation of potassium channels provided some explanations. We herein reviewed these recent findings and their mechanistic implications. We also propose a clinical molecular classification of familial hyperaldosteronism, which can be important from the practical standpoint as it considers besides the molecular features also the responsiveness to treatment and the imaging features.
原发性醛固酮增多症（PA）是高血压最常见的内分泌病因。仅少数PA病例为家族性，且由已知病因（CYP11B2/CYP11B1嵌合基因或KCNJ5基因突变）或未知病因引起。在最常见的散发性病例中，尽管存在高血压、钠潴留、肾素-血管紧张素系统受抑制及低钾水平，而这些因素本身都有望抑制醛固酮分泌，但醛固酮仍持续过量分泌，几十年来这一直是个谜。直到最近，功能性突变的发现及钾通道下调才提供了一些解释。我们在此回顾了这些最新发现及其机制意义。我们还提出了家族性醛固酮增多症的临床分子分类，从实际角度来看这可能很重要，因为它除了考虑分子特征外，还考虑了对治疗的反应性和影像学特征。
