Pseudoaldosteronism and the epithelial sodium channel

B. Scott Nunez, Perrin C. White

Research output: Contribution to journalArticle

2 Scopus citations

Abstract

Sodium reabsorption in the distal nephron is mediated by the epithelial sodium channel (ENaC). Genetic defects in the regulation of ENaC activity cause two syndromes of mineralocorticoid-independent, salt-sensitive hypertension. Liddle's syndrome results from mutations in the regulatory subunits of the ENaC, which lead to constitutive activation of this channel. The syndrome of apparent mineralocorticoid excess results from deleterious mutations in the gene encoding 11-hydroxysteroid dehydrogenase type 2. This enzyme protects the mineralocorticoid receptor from spurious activation by glucocorticoids; loss of 11-hydroxysteroid dehydrogenase type 2 activity allows glucocorticoids to activate the receptor and thus increase ENaC activity. The genes involved in these syndromes are candidate loci for increased risk for essential hypertension in humans.

Original languageEnglish (US)
Pages (from-to)238-244
Number of pages7
JournalCurrent Opinion in Endocrinology and Diabetes
Volume6
Issue number3
DOIs
StatePublished - Jun 23 1999

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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