Glucocorticoid-remediable aldosteronism (GRA);
Familial hyperaldosteronism type I

Primary aldosteronism [DS:H01603]

Glucocorticoid-remediable aldosteronism (GRA), also known as familial hypoaldosteronism type I, is an autosomal dominant disease that causes hypertension, hypokalemia, decreased plasma renin activity and increased aldosterone levels. GRA is caused by a chimeric gene that links the 11 [beta]-hydroxylase promoter sequence to the aldosterone synthase gene's coding region. As a result, aldosterone is ectopically synthesized in the cortisol-secreting zona fasciculata of the adrenal gland under the control of adrenocorticotropin (ACTH). The high levels of mineralocorticoids activate the mineralocorticoid receptor (MR) and upregulate Na reabsorption and K secretion. Most individuals have severe hypertension since infancy but milder phenotypes have been described.

Endocrine disease

nt06310  CRH-ACTH-cortisol signaling

CYP11B1 [HSA:1584] [KO:K00497]
CYP11B2 [HSA:1585] [KO:K07433]

PMID:21404100

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PMID:17496764

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PMID:17262198

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PMID:15761539

McMahon GT, Dluhy RG

Glucocorticoid-remediable aldosteronism.

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DOI:10.1590/S0004-27302004000500014

PMID:11004715

Torpy DJ, Stratakis CA, Chrousos GP

Familial hyperaldosteronism.

Braz J Med Biol Res 33:1149-55 (2000)
DOI:10.1590/S0100-879X2000001000004