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Familial hyperaldosteronism

Author
William F Young, Jr, MD, MSc
Section Editors
Richard H Sterns, MD
André Lacroix, MD
Deputy Editor
Kathryn A Martin, MD

INTRODUCTION

Familial hyperaldosteronism (FH) is an uncommon subset of primary aldosteronism. There are three forms of FH:

●FH type I or glucocorticoid-remediable aldosteronism (GRA) due to a CYP11B1/CYP11B2 chimeric gene

●FH type II, which has been localized to chromosome 7p22, but exact location of mutation(s) is unknown to date

●FH type III caused by germline mutations in the potassium channel subunit KCNJ5

The three forms of FH will be reviewed here. Primary aldosteronism is discussed separately. (See "Diagnosis of primary aldosteronism" and "Pathophysiology and clinical features of primary aldosteronism" and "Treatment of primary aldosteronism".)

                 

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Literature review current through: Jun 2017. | This topic last updated: Nov 11, 2015.
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