Accepted Preprint (first posted online 27 March 2017)

    Mineralocorticoid receptor mutations

    1. Fabio Luiz Fernandes-Rosa
    1. M Zennaro, Paris Cardiovascular Research Center, INSERM, UMRS_970, Paris, France
    2. F Fernandes-Rosa, Paris Cardiovascular Research Center, INSERM, UMRS_970, Paris, France
    1. Correspondence: Maria-Christina Zennaro, Email: maria-christina.zennaro{at}inserm.fr

    Abstract

    Aldosterone and the mineralocorticoid receptor (MR) are key elements for maintaining fluid and electrolyte homeostasis as well as regulation of blood pressure. Loss of function mutations of the MR are responsible for renal pseudohypoaldosteronism type 1 (PHA1), a rare disease of mineralocorticoid resistance presenting in the newborn with weight loss, failure to thrive, vomiting and dehydration, associated with hyperkalemia and metabolic acidosis, despite extremely elevated levels of plasma renin and aldosterone. On the opposite, a MR gain of function mutation has been associated with a familial form of inherited mineralocorticoid hypertension exacerbated by pregnancy. In addition to rare variants, frequent functional single nucleotide polymorphisms of the MR are associated with salt sensitivity, blood pressure, stress response and depression in the general population. This review will summarize our knowledge on MR mutations in PHA1, reporting our experience on the genetic diagnosis in a large number of patients performed in the last 10 years at a national reference center for the disease. We will also discuss the influence of rare MR variants on blood pressure and salt sensitivity as well as on stress and cognitive functions in the general population.

    • Received 15 February 2017
    • Accepted 27 March 2017
    • Accepted Preprint first posted online on 27 March 2017

    This Article

    1. J Endocrinol JOE-17-0089
    1. Abstract
    2. All Versions of this Article:
      1. JOE-17-0089v1
      2. 234/1/T93 most recent

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