Complete Information on Apparent mineralocorticoid excess with Treatment and Prevention

Apparent mineralocorticoid excess (AME ) are autosomal recessieve form of laag-reninhypertensie, cause of hypertensie and hypokalaemia which answers to glucocorticoid treatment. The syndrome of apparent mineralocorticoid excess is a rare form of severe juvenile hypertension that is usually transmitted as an autosomal recessive trait. Patients with apparent mineralocorticoid excess have low or absent activity of the enzyme 11 beta OH steroid dehydrogenase, and inappropriately high intrarenal levels of cortisol resulting in Na+ retention and hypertension. Although apparent mineralocorticoid excess is presumed to reflect inappropriate cortisol occupancy of mineralocorticoid receptors, several features also suggest inappropriate occupancy of glucocorticoid receptors.

The apparent excess of mineralocorticoid is characterized by the low weight of birth, misses thriving, serious beginning of hypertension in childhood early with the wide body of target damage, hypercalciuria, nephrocalcinosis, and renal failure. The inactivating mutation leads to elevated local concentrations of cortisol in the kidney. Cortisol at high concentrations can cross-react and activate the mineralocorticoid receptor, leading to aldosterone-like effects in the kidney. These manifestations are accompanied by all of the findings of primary aldosteronism (hypertension, hypokalemia, metabolic alkalosis, and low plasma renin activity) except for the low plasma aldosterone concentration. In this disorder, both male and female sexual development can be affected in utero. It may also cause salt-wasting. It is diagnosed by hormone testing and DNA analysis and is treated by steroid hormone replacement.

For Apparent mineralocorticoid excess, diagnosis is usually made at adolescence as a result of lack of menstruatie but can former be made if inguinal internal organ crack are found for by undescended testicle are caused. It is often diagnosed at birth due to genital ambiguity. Patients are born with female or ambiguous external genitals, which masculinize only at adolescence during puberty. Biochemical diagnosis of AME is made by measuring the ratio of cortisol to cortisone by the ratios of their urinary metabolites. Diagnosis is made by hormonal and genetic analysis. Treatment includes hormone replacement appropriate for the elected sex of the individual, and genital surgery is usually required only if the female gender is elected. Treatment for hypertension to reduce salt retention by the kidney should begin as early as possible. A mild form of apparent mineralocorticoid excess has been identified.