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Mineralocorticoid Resistance

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Hydro Saline Metabolism

Part of the book series: Endocrinology ((ENDOCR))

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Abstract

Aldosterone and the mineralocorticoid receptor are major regulators of fluid and electrolyte homeostasis as well as regulation of blood pressure by stimulating sodium reabsorption in the distal nephron. Pseudohypoaldosteronism type 1 (PHA1) is a rare disease characterized by salt loss in the neonatal period secondary to a target organ resistance to mineralocorticoid action. Patients exhibit salt wasting in the neonatal period with failure to thrive, vomiting, and dehydration, associated with hyponatremia, hyperkalemia, and metabolic acidosis despite high levels of aldosterone and renin. The renal form of PHA1 occurs in most cases by loss of function mutations in the mineralocorticoid receptor (MR) gene, and the generalized PHA1 is due to inactivating mutations in the genes coding for the subunits of the epithelial amiloride-sensitive sodium channel ENaC. In addition, transitory forms of PHA1 are associated with malformations in the urinary tract and/or urinary tract infections. PHA1 is a major differential diagnosis for salt wasting syndromes occurring in the first weeks after birth. The knowledge of its genetic background and pathophysiology may improve the early recognition of the disease and patients care, resulting in decreased morbidity and mortality.

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  1. Université Paris Cité, PARCC, Inserm, Paris, France

    Fabio Luiz Fernandes-Rosa

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  1. Department of Human Sciences and Promotion of the Quality of Life, San Raffaele Roma Open University, Rome, Italy

    Massimiliano Caprio

  2. Université Paris Cité, PARCC, Inserm, Paris, France

    Fabio Luiz Fernandes-Rosa

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Fernandes-Rosa, F.L. (2023). Mineralocorticoid Resistance. In: Caprio, M., Fernandes-Rosa, F.L. (eds) Hydro Saline Metabolism. Endocrinology. Springer, Cham. https://doi.org/10.1007/978-3-031-27119-9_12

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