Apparent mineralocorticoid excess (AME) is a rare genetic disorder that affects the body's ability to regulate salt and water balance. It is caused by a mutation in the gene that codes for the enzyme 11-beta-hydroxysteroid dehydrogenase type 2 (11-beta-HSD2). This enzyme normally helps to convert cortisol, a hormone produced by the adrenal glands, into cortisone, which is inactive. In people with AME, the enzyme does not work properly, leading to an excess of cortisol in the body. This can cause a variety of symptoms, including high blood pressure, low potassium levels, and excessive thirst and urination. Treatment for AME typically involves medications to reduce cortisol levels and to help regulate salt and water balance.

The symptoms of Apparent Mineralocorticoid Excess (AME) include:

-High blood pressure
-Low potassium levels
-Excessive thirst and urination
-Muscle weakness
-Fatigue
-Headaches
-Weight gain
-Abdominal pain
-Nausea and vomiting
-Swelling in the face, hands, and feet
-Irritability
-Depression
-Heart palpitations
-Sodium and water retention

Apparent mineralocorticoid excess (AME) is a rare genetic disorder caused by a mutation in the gene that encodes the enzyme 11β-hydroxysteroid dehydrogenase type 2 (11β-HSD2). This enzyme normally inactivates cortisol, a hormone produced by the adrenal glands, so that it cannot act on the kidney to cause salt and water retention. When the enzyme is mutated, cortisol is not inactivated and can act on the kidney, leading to salt and water retention and the symptoms of AME.

1. Spironolactone: This is a medication that blocks the action of aldosterone, the hormone that causes the body to retain salt and water.

2. Amiloride: This is a medication that blocks the action of sodium channels in the kidney, which helps reduce sodium and water retention.

3. Fludrocortisone: This is a synthetic form of the hormone aldosterone, which helps the body retain salt and water.

4. Dietary changes: A low-salt diet can help reduce sodium and water retention.

5. Potassium supplementation: Potassium helps balance the body’s electrolytes and can help reduce sodium and water retention.

6. Diuretics: These medications help the body get rid of excess fluid and sodium.

1. Autosomal recessive inheritance
2. Mutations in the gene encoding the mineralocorticoid receptor (MR)
3. Mutations in the gene encoding 11β-hydroxysteroid dehydrogenase type 2 (11β-HSD2)
4. Mutations in the gene encoding the enzyme aldosterone synthase (CYP11B2)
5. Mutations in the gene encoding the enzyme 11β-hydroxylase (CYP11B1)
6. Mutations in the gene encoding the enzyme 21-hydroxylase (CYP21A2)
7. Mutations in the gene encoding the enzyme 3β-hydroxysteroid dehydrogenase (HSD3B2)
8. Mutations in the gene encoding the enzyme 17α-hydroxylase

Yes, there is a cure for Apparent Mineralocorticoid Excess (AME). Treatment typically involves the use of medications such as spironolactone, amiloride, and eplerenone to block the action of aldosterone, the hormone that causes the excess salt and water retention. In some cases, surgery may be necessary to remove the adrenal glands that are producing too much aldosterone.