Article
KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronism.
Hypertension (Dallas, Tex. : 1979) - 1 Feb 2012
Mulatero Paolo, Tauber Philipp, Zennaro Maria-Christina, Monticone Silvia, Lang Katharina, Beuschlein Felix, Fischer Evelyn, Tizzani Davide, Pallauf Anna, Viola Andrea, Amar Laurence, Williams Tracy Ann, Strom Tim M, Graf Elisabeth, Bandulik Sascha, Penton David, Plouin Pierre-François, Warth Richard, Allolio Bruno, Jeunemaitre Xavier, Veglio Franco, Reincke Martin
Abstract excerpt
Primary aldosteronism is the most frequent cause of endocrine hypertension. Three forms of familial hyperaldosteronism (FH) have been described, named FH-I to -III. Recently, a mutation of KCNJ5 has been shown to be associated with FH-III, whereas the cause of FH-II is still unknown. In this study we searched for mutations in KCNJ5 in 46 patients from 21 families with FH, in which FH-I was excluded. We identified...
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