Apparent Mineralocorticoid Excess

Definition

Definition of Apparent Mineralocorticoid Excess
Apparent mineralocorticoid excess (AME) is an autosomal recessive disorder causing hypertension (high blood pressure) and hypokalemia (abnormally low levels of potassium). The condition responds to glucocorticoid treatment. It results from mutations in the HSD11B2 gene, which encodes the kidney isozyme of 11ß-hydroxysteroid dehydrogenase type 2. In an unaffected individual, this isozyme inactivates circulating cortisol to the less-active metabolite cortisone. 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. This is what causes the hypokalemia, hypertension, and hypernatremia associated with the syndrome.

Symptoms

Symptoms of Apparent Mineralocorticoid Excess
Apparent mineralocorticoid excess can be seen after birth with low birth weight and postnatal failure to thrive. Most patients of AME experience hypertension, polydipsia and persistent polyuria. AME is characterized by hyporeninemia, hypokalemic alkalosis and undetectable serum concentrations of “aldosterone”. Majority of Apparent mineralocorticoid excess patients develop hypertension even at a young age. End-organ damages can also occur in the heart, retina, kidney or central nervous system.

Causes

Causes of Apparent Mineralocorticoid Excess
Following is a list of causes or underlying conditions (see also Misdiagnosis of underlying causes of Apparent mineralocorticoid excess) that could possibly cause Apparent mineralocorticoid excess includes:
The condition is inherited in an autosomal recessive manner

Diagnosis

Diagnosis of Apparent Mineralocorticoid Excess
These home medical tests may be relevant to Apparent mineralocorticoid excess:

Child Behavior: Home Testing
ADHD-Home Test Kits
Concentration-Home Testing

Child General Health: Home Testing
Asthma-Related Home Tests
Home Allergy Tests

Treatment

Treatment of Apparent Mineralocorticoid Excess
Treatment for Apparent mineralocorticoid excess is primarily focused in correcting hypertension and hypokalemia. Doctors recommend the MR receptor antagonist spironolactone as medication to protect receptors against excessive mineralocorticoid. Reduction in supplemental potassium and dietary sodium is usually instructed. AME patients with “nephrocalcinosis” may require thiazide diuretic. Anti-hypertensive drugs, such as amiloride and thiazides may be helpful as the disease progresses.

Prognosis

Prognosis of Apparent Mineralocorticoid Excess
Consult with your doctor.

Prevention

Prevention of Apparent Mineralocorticoid Excess
Consult with your doctor.