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Monogenic Forms of Hypertension

Filippo Ceccato1, Franco Mantero1

  • 1Endocrinology Unit, Department of Medicine DIMED, University-Hospital of Padova, Via Ospedale Civile, 105, Padova 35128, Italy.

Endocrinology and Metabolism Clinics of North America
|October 28, 2019
PubMed

Insights

Rare monogenic hypertension forms offer insights into blood pressure regulation. Studying these conditions helps understand essential hypertension and develop personalized treatments.

Area of Science:

  • Nephrology
  • Endocrinology
  • Genetics

Background:

  • Essential hypertension is highly prevalent.
  • Secondary hypertension has specific, reversible causes, including endocrine disorders.
  • Rare monogenic forms present electrolyte imbalances and a suppressed renin-aldosterone axis.

Purpose of the Study:

  • Describe rare monogenic forms of hypertension.
  • Illustrate the physiology of renal sodium and plasma volume control.
  • Connect monogenic hypertension to essential hypertension phenotypes for personalized treatment.

Main Methods:

  • Literature review of monogenic hypertension.
  • Analysis of electrolyte disorders and hormonal profiles.
  • Comparison with essential hypertension pathophysiology.

Main Results:

  • Monogenic hypertension models reveal renal control mechanisms.
  • These rare diseases share features with essential hypertension.
  • Understanding monogenic forms aids in personalized treatment strategies.

Conclusions:

  • Rare monogenic hypertension provides valuable physiological models.
  • Insights from these conditions can inform essential hypertension management.
  • Mechanistically driven personalized treatment is a promising approach.

Keywords:
Apparent excess of mineralocorticoidsCongenital adrenal hyperplasiaGordon syndromeHypokalemiaLiddle syndromeLow-renin hypertensionSteroidogenesis

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