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Hypoaldosteronism is an endocrinological disorder characterized by decreased levels of the hormone aldosterone. Similarly, isolated hypoaldosteronism is the condition of having lowered aldosterone without corresponding changes in cortisol . [ 1 ] (
Pseudohypoaldosteronism (PHA) is a condition that mimics hypoaldosteronism (presenting hyperkalemia). [1] Two major types of primary pseudohypoaldosteronism are recognized and these have major differences in etiology and presentation.
The genes encoding aldosterone synthase and 11β-hydroxylase are 95% identical and are close together on chromosome 8.In individuals with GRA, there is unequal crossing over so that the 5' regulatory region of the 11-hydroxylase gene is fused to the coding region of the aldosterone synthase.
Pseudohyperaldosteronism (also pseudoaldosteronism) is a medical condition which mimics the effects of elevated aldosterone (hyperaldosteronism) by presenting with high blood pressure, low blood potassium levels (hypokalemia), metabolic alkalosis, and low levels of plasma renin activity (PRA).
The two genes show 93% homology to each other and are both encoded on the same chromosome. [8] Research has shown that calcium ions activate transcription factors at CYP11B2 through well defined interactions at the 5'-flanking region of CYP11B2. [5] Aldosterone synthase is a member of the cytochrome P450 superfamily of enzymes. [9]
Addison's disease, also known as primary adrenal insufficiency, [4] is a rare long-term endocrine disorder characterized by inadequate production of the steroid hormones cortisol and aldosterone by the two outer layers of the cells of the adrenal glands (adrenal cortex), causing adrenal insufficiency.
Aldosterone is the main mineralocorticoid steroid hormone produced by the zona glomerulosa of the adrenal cortex in the adrenal gland. [4] [5] It is essential for sodium conservation in the kidney, salivary glands, sweat glands, and colon. [6]
Liddle's syndrome, also called Liddle syndrome, [1] is a genetic disorder inherited in an autosomal dominant manner that is characterized by early, and frequently severe, high blood pressure associated with low plasma renin activity, metabolic alkalosis, low blood potassium, and normal to low levels of aldosterone. [1]