Glucocorticoid remediable aldosteronism

18-Hydroxylase overactivityGlucocorticoid-remediable aldosteronismtype I
Glucocorticoid remediable aldosteronism also describable as aldosterone synthase hyperactivity, is an autosomal dominant disorder in which the increase in aldosterone secretion produced by ACTH is no longer transient.wikipedia
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Asymptomatic

subclinicalsub-clinicalno symptoms
Patients with GRA may be asymptomatic, but the following symptoms can be present:

Aldosterone synthase

18-hydroxylaseCYP11B218-Hydroxylase deficiency
Aldosterone synthase is a steroid hydroxylase cytochrome P450 oxidase enzyme involved in the generation of aldosterone. However, in subjects with glucocorticoid-remediable aldosteronism, ACTH increases the activity of existing aldosterone synthase, resulting in an abnormally high rate of aldosterone synthesis and hyperaldosteronism.

Hyperaldosteronism

secondary hyperaldosteronismmineralocorticoid excessaldosteronism
However, in subjects with glucocorticoid-remediable aldosteronism, ACTH increases the activity of existing aldosterone synthase, resulting in an abnormally high rate of aldosterone synthesis and hyperaldosteronism.
Two familial forms have been identified: type I (dexamethasone suppressible), and type II, which has been linked to the 7p22 gene.

Apparent mineralocorticoid excess syndrome

apparent mineralocorticoid excessmineralocorticoid excess syndrome, apparentsyndrome of apparent mineralocorticoid excess

Dominance (genetics)

autosomal recessiverecessiveautosomal dominant
Glucocorticoid remediable aldosteronism also describable as aldosterone synthase hyperactivity, is an autosomal dominant disorder in which the increase in aldosterone secretion produced by ACTH is no longer transient.

Adrenocorticotropic hormone

ACTHcorticotropinadrenocorticotrophic hormone
Glucocorticoid remediable aldosteronism also describable as aldosterone synthase hyperactivity, is an autosomal dominant disorder in which the increase in aldosterone secretion produced by ACTH is no longer transient.

Polydipsia

increased thirstexcessive thirstIncreased drinking

Metabolic alkalosis

alkaloticelevated blood pHincreased blood pH and high blood bicarbonate level

Hydroxylation

hydroxylatedhydroxylasehydroxylate
Aldosterone synthase is a steroid hydroxylase cytochrome P450 oxidase enzyme involved in the generation of aldosterone.

Cytochrome P450

cytochrome P450 oxidaseP450CYP450
Aldosterone synthase is a steroid hydroxylase cytochrome P450 oxidase enzyme involved in the generation of aldosterone.

Mitochondrion

mitochondriamitochondrialmitochondrial membrane
It is localized to the mitochondrial inner membrane.

Zona glomerulosa

cells
Aldosterone synthase is found within the zona glomerulosa at the outer edge of the adrenal cortex.

Adrenal cortex

adrenocorticalcortexadrenocortical cells
Aldosterone synthase is found within the zona glomerulosa at the outer edge of the adrenal cortex.

Tubule

tubulesTubulusporous tubules
Aldosterone causes the tubules of the kidneys to retain sodium and water.

Kidney

kidneysrenalkidney disorder
Aldosterone causes the tubules of the kidneys to retain sodium and water.