Genetics of Primary Aldosteronism

高血压是西方社会最常见的慢性疾病，可导致中风、心脏病发作和肾衰竭。在一种被称为原发性醛固酮增多症（PAL）的疾病中，高血压是由于身体的肾上腺过度产生盐保持激素醛固酮而引起的。在一些患者中，这是由于产生醛固酮的肾上腺肿瘤的生长。最近在Greenslopes医院高血压科进行的工作以及这些研究人员在Princess Alexandra医院高血压科继续进行的工作表明，PAL是最常见的潜在可治愈的高血压形式，占至少5%，可能10%的患者。这些研究人员积累的几条证据，包括检测到PAL（家族性醛固酮增多症II型或FH-II）的新家族变种，表明PAL是一种遗传性疾病。该研究通过比较从这些家庭的受影响成员收集的遗传物质与非受影响成员的遗传物质，以及比较PAL患者的基因与无关的未受影响个体的基因，来定位导致PAL的遗传缺陷。一旦了解了这种疾病的遗传学，就可以在生命的早期，甚至在出生时发现受影响的人，并预防其发展中的疾病的不良影响。

Hypertension (high blood pressure) is the commonest chronic condition in western societies, and can lead to strokes, heart attacks and kidney failure. In a disease known as primary aldosteronism (PAL), hypertension results from the excessive production of the salt-retaining hormone, aldosterone, by the the body's adrenal glands. In some patients, this is due to the growth of an aldosterone-producing adrenal tumour. Recent work performed within the Hypertension Unit at Greenslopes Hospital and continued by these investigators within the Hypertension Unit at Princess Alexandra Hospital has shown that PAL is the commonest potentially curable form of hypertension, accounting for at least 5% and possibly 10% of patients. Several lines of evidence accumulated by these investigators, including the detection of a new familial variety of PAL (Familial Hyperaldosteronism Type II or FH-II), suggest that PAL is a genetic disorder. The study sets out to locate the genetic defect causing PAL by comparing genetic material collected from affected members of these families with that from non-affected members, and by comparing genes from patients with PAL with those of unrelated, unaffected individuals. Once the genetics of this condition is understood, affected persons can be detected early in life, and even at birth, and the ill-effects of their developing conditions prevented.