Monogenic Forms of Hypertension

Endocrinol Metab Clin North Am. 2019 Dec;48(4):795-810. doi: 10.1016/j.ecl.2019.08.009. Epub 2019 Sep 19.

Abstract

Essential hypertension is a highly prevalent disease in the general population. Secondary hypertension is characterized by a specific and potentially reversible cause of increased blood pressure levels. Some secondary endocrine forms of hypertension are common (caused by uncontrolled cortisol, aldosterone, or catecholamines production). This article describes rare monogenic forms of hypertension, characterized by electrolyte disorders and suppressed renin-aldosterone axis. They represent simple models for the physiology of renal control of sodium levels and plasma volume, thus reaching a high scientific interest. Furthermore, they could explain some features closer to the essential phenotype of hypertension, suggesting a mechanistically driven personalized treatment.

Keywords: Apparent excess of mineralocorticoids; Congenital adrenal hyperplasia; Gordon syndrome; Hypokalemia; Liddle syndrome; Low-renin hypertension; Steroidogenesis.

Publication types

  • Review

MeSH terms

  • Adrenal Hyperplasia, Congenital* / complications
  • Adrenal Hyperplasia, Congenital* / metabolism
  • Adrenal Hyperplasia, Congenital* / therapy
  • Arthrogryposis* / complications
  • Arthrogryposis* / metabolism
  • Arthrogryposis* / therapy
  • Cleft Palate* / complications
  • Cleft Palate* / metabolism
  • Cleft Palate* / therapy
  • Clubfoot* / complications
  • Clubfoot* / metabolism
  • Clubfoot* / therapy
  • Hand Deformities, Congenital* / complications
  • Hand Deformities, Congenital* / metabolism
  • Hand Deformities, Congenital* / therapy
  • Humans
  • Hypertension* / drug therapy
  • Hypertension* / etiology
  • Hypertension* / metabolism
  • Hypertension* / physiopathology
  • Liddle Syndrome* / complications
  • Liddle Syndrome* / metabolism
  • Liddle Syndrome* / therapy
  • Mineralocorticoid Excess Syndrome, Apparent* / complications
  • Mineralocorticoid Excess Syndrome, Apparent* / metabolism
  • Mineralocorticoid Excess Syndrome, Apparent* / therapy

Supplementary concepts

  • Gordon syndrome