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ea0029p32 | Adrenal cortex | ICEECE2012

KCNJ5 Mutations in European Families with Non-Glucocorticoid Remediable Familial Hyperaldosteronism

Mulatero P. , Tauber P. , Zennaro M. , Monticone S. , Lang K. , Beuschlein F. , Fischer E. , Burrello J. , Pallauf A. , Galmozzi M. , Amar L. , Williams T. , Strom T. , Graf E. , Bandulik S. , Penton D. , Plouin P. , Warth R. , Allolio B. , Jeunemaitre X. , Veglio F. , Reincke M.

Primary Aldosteronism (PA) 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 a new germline G151E mutation in two PA affected subjects f...

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Endocrine Abstracts

KCNJ5 Mutations in European Families with Non-Glucocorticoid Remediable Familial Hyperaldosteronism

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