title: Genetic disorders in primary aldosteronism-familial and somatic.
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.
authors.affiliation: Hudson Institute of Medical Research and Monash University, Clayton 27-31 Wright Street, Clayton, Victoria 3168, Australia. Electronic address: john.funder@hudson.org.au.
authors.forename: John W
authors.initials: JW
authors.lastname: Funder
mesh_terms: D000236:Adenoma / Q000235:genetics; D000251:Adenosine Triphosphatases / Q000737:chemistry; D000306:Adrenal Cortex Neoplasms / Q000378:metabolism; D000328:Adult; D000450:Aldosterone / Q000378:metabolism; D002678:Chimera; D005260:Female; D051676:G Protein-Coupled Inwardly-Rectifying Potassium Channels / Q000235:genetics; D006801:Humans; D006929:Hyperaldosteronism / Q000235:genetics*; D007477:Ions; D008297:Male; D009154:Mutation; D053499:Plasma Membrane Calcium-Transporting ATPases / Q000235:genetics; D013252:Steroid 11-beta-Hydroxylase / Q000235:genetics
chemical_list: D051676:G Protein-Coupled Inwardly-Rectifying Potassium Channels; D007477:Ions; D000450:Aldosterone; D013252:Steroid 11-beta-Hydroxylase; D000251:Adenosine Triphosphatases; D053499:Plasma Membrane Calcium-Transporting ATPases
keywords: ATP1A1; ATP2B3; Aldosterone; CACNA1D; CACNA1H; CTNNB1; CYP11B1; CYP11B2; Chimera; KCNJ5