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J Steroid Biochem Mol Biol. 2017 Jan;165(Pt A):154-157. doi: 10.1016/j.jsbmb.2016.03.020. Epub 2016 Mar 21.

Genetic disorders in primary aldosteronism-familial and somatic.

Author information

1
Hudson Institute of Medical Research and Monash University, Clayton 27-31 Wright Street, Clayton, Victoria 3168, Australia. Electronic address: john.funder@hudson.org.au.

Abstract

Familial hyperaldosteronism has been with us for 50 years, and somatic mutations responsible for aldosterone producing adenomas for five. This brief review covers advancement in each of these genetic bases of primary aldosteronism over these very different time scales, focusing on diagnosis, management and unanswered questions. Given the increasing clinical recognition of primary aldosteronism as public health issue, its heightened risk profile and the availability of targeted surgical/medical treatment, many of the current questions posed may be answered over the next five years.

KEYWORDS:

ATP1A1; ATP2B3; Aldosterone; CACNA1D; CACNA1H; CTNNB1; CYP11B1; CYP11B2; Chimera; KCNJ5

PMID:
27013018
DOI:
10.1016/j.jsbmb.2016.03.020
[Indexed for MEDLINE]

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