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KCNJ5 Mutations in European Families With Nonglucocorticoid Remediable Familial Hyperaldosteronism

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

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 ...

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