Role of glucocorticoid receptor mutations in hypertension and adrenal gland hyperplasia.

Verouti, Sophia; Hummler, Edith; Vanderriele, Paul-Emmanuel (2022). Role of glucocorticoid receptor mutations in hypertension and adrenal gland hyperplasia. Pflügers Archiv : European journal of physiology, 474(8), pp. 829-840. Springer 10.1007/s00424-022-02715-6

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Hypertension is one of the leading causes of premature death in humans and exhibits a complex aetiology including environmental and genetic factors. Mutations within the glucocorticoid receptor (GR) can cause glucocorticoid resistance, which is characterized by several clinical features like hypercortisolism, hypokalaemia, adrenal hyperplasia and hypertension. Altered glucocorticoid receptor signalling further affects sodium and potassium homeostasis as well as blood pressure regulation and cell proliferation and differentiation that influence organ development and function. In salt-sensitive hypertension, excessive renal salt transport and sympathetic nervous system stimulation may occur simultaneously, and, thus, both the mineralocorticoid receptor (MR) and the GR-signalling may be implicated or even act interdependently. This review focuses on identified GR mutations in human primary generalized glucocorticoid resistance (PGGR) patients and their related clinical phenotype with specific emphasis on adrenal gland hyperplasia and hypertension. We compare these findings to mouse and rat mutants harbouring genetically engineered mutations to further dissect the cause and/or the consequence of clinical features which are common or different.

Item Type:

Journal Article (Review Article)

Division/Institute:

04 Faculty of Medicine > Department of Dermatology, Urology, Rheumatology, Nephrology, Osteoporosis (DURN) > Clinic of Nephrology and Hypertension

UniBE Contributor:

Verouti, Sofia

Subjects:

600 Technology > 610 Medicine & health

ISSN:

1432-2013

Publisher:

Springer

Language:

English

Submitter:

Pubmed Import

Date Deposited:

24 Jun 2022 10:19

Last Modified:

05 Dec 2022 16:21

Publisher DOI:

10.1007/s00424-022-02715-6

PubMed ID:

35732960

Uncontrolled Keywords:

Animal model Epithelial transport Glucocorticoid resistance Homeostasis Hypercortisolism Kidney physiology

BORIS DOI:

10.48350/170879

URI:

https://boris.unibe.ch/id/eprint/170879

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