Familial hyperaldosteronism type 2 is defined as autosomal dominant hyperaldosteronism that is not suppressible by glucocorticoids and not caused by a mutation in any of the other genes of familial hyperaldosteronism. Often but not always the disorder is associated with unilateral or bilateral adenoma. In some families but not in all it is associated to chromosomal locus 7p22.
Familial hyperaldosteronism that was not suppressible by glucocorticoids was first described in the early 90th.[Error: Macro 'ref' doesn't exist]
Up to 6% of patient with primary hyperaldosteronism seem to belong to familial hyperaldosteronism type 2.[Error: Macro 'ref' doesn't exist]
Hyperaldosteronism | ||||
Conn syndrome | ||||
Glucocorticoid triggered hypertension | ||||
Hyperaldosteronism type 1 | ||||
Hyperaldosteronism type 2 | ||||
CLCN2 | ||||
Hyperaldosteronism type 3 | ||||
Hyperaldosteronism type 4 | ||||
1. |
Stowasser M et al. (1992) Familial hyperaldosteronism type II: five families with a new variety of primary aldosteronism. |
2. |
Lafferty AR et al. (2000) A novel genetic locus for low renin hypertension: familial hyperaldosteronism type II maps to chromosome 7 (7p22). |
3. |
Torpy DJ et al. (1998) Familial hyperaldosteronism type II: description of a large kindred and exclusion of the aldosterone synthase (CYP11B2) gene. |
4. |
None (2016) Genetic disorders in primary aldosteronism-Familial and somatic. |
5. |
Carss KJ et al. (2011) Further study of chromosome 7p22 to identify the molecular basis of familial hyperaldosteronism type II. |
6. |
Nishimoto K et al. (2015) Aldosterone-stimulating somatic gene mutations are common in normal adrenal glands. |
7. |
Mulatero P et al. (2011) Prevalence and characteristics of familial hyperaldosteronism: the PATOGEN study (Primary Aldosteronism in TOrino-GENetic forms). |
8. |
OMIM.ORG article Omim 605635 |
9. |
Orphanet article Orphanet ID 404 |