Aldosteronism is characterized by hight aldosterone levels accompanied by the typical clinical symptoms, such as hypertension, water retention, and hypokalemia.
Four types of familial aldosteromism are characterized so far, but only type 1, 3, and 4 can be tested genetically. Aldosterone producing adenomas result from somatic mutations in adrenal cells.
Only in 2% of cases, hypertension is due to primary aldosteronism, which largely results from aldosterone producing adenoma or bilateral adrenal hyperplasia.
In patients with hypertension and low serum potassium levels, as well as height aldosterone and low renin levels, hyperaldosteronism should be considered.
Lafferty AR et al. (2000) A novel genetic locus for low renin hypertension: familial hyperaldosteronism type II maps to chromosome 7 (7p22).[^]
Torpy DJ et al. (1998) Familial hyperaldosteronism type II: description of a large kindred and exclusion of the aldosterone synthase (CYP11B2) gene.[^]
None (2016) Genetic disorders in primary aldosteronism-Familial and somatic.[^]
Orphanet articleOrphanet ID 403 [^]
Wikipedia articleWikipedia EN (Hyperaldosteronism) [^]