- William F Young, Jr, MD, MSc
William F Young, Jr, MD, MSc
- Professor of Medicine
- Mayo Clinic College of Medicine
- Section Editors
- Richard H Sterns, MD
Richard H Sterns, MD
- Editor-in-Chief — Nephrology
- Section Editor — Fluid and Electrolytes
- Professor Emeritus
- University of Rochester School of Medicine and Dentistry
- André Lacroix, MD
André Lacroix, MD
- Section Editor — Adrenal Disease
- Professor of Medicine
- University of Montreal, Quebec, Canada
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".)To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information on subscription options, click below on the option that best describes you:
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- FAMILIAL HYPERALDOSTERONISM TYPE I (FH TYPE I) OR GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM (GRA)
- Clinical characteristics
- FAMILIAL HYPERALDOSTERONISM TYPE II (FH TYPE II)
- Possible mutations
- Clinical features
- Approach to diagnosis
- FAMILIAL HYPERALDOSTERONISM TYPE III (FH TYPE III)
- Mutations in KCNJ5 gene
- Clinical findings
- Evaluation and diagnosis
- SOCIETY GUIDELINE LINKS
- SUMMARY AND RECOMMENDATIONS