Search results
Results from the WOW.Com Content Network
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 ] (
The ND2 protein is a subunit of NADH dehydrogenase (ubiquinone), which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain. [6] Variants of human MT-ND2 are associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), Leigh's syndrome (LS ...
Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is a form of congenital adrenal hyperplasia (CAH) which produces a higher than normal amount of androgen, [1] resulting from a defect in the gene encoding the enzyme steroid 11β-hydroxylase (11β-OH) which mediates the final step of cortisol synthesis in the adrenal. 11β-OH CAH results in hypertension due to excessive ...
The CYP21A2 gene for the P450c21 enzyme (also known as 21-hydroxylase) is at 6p21.3, [133] amid genes HLA B and HLA DR coding for the major human histocompatibility loci . The protein-coding CYP21A2 gene may be accompanied by one or several copies of the nonfunctional pseudogene CYP21A1P.
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]
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.
Aldosterone synthase is a protein which is only expressed in the zona glomerulosa [5] of the adrenal cortex and is primarily regulated by the renin–angiotensin system. [6] It is the sole enzyme capable of synthesizing aldosterone in humans and plays an important role in electrolyte balance and blood pressure. [7]