Pseudohypoaldosteronism type 2C (PHA2C) is a rare genetic disorder characterized by a deficiency of the mineralocorticoid receptor (MR) in the kidney. This leads to a decrease in the ability of the kidney to respond to aldosterone, a hormone that helps regulate salt and water balance in the body. Symptoms of PHA2C include low blood pressure, dehydration, and electrolyte imbalances. Treatment typically involves the use of mineralocorticoid replacement therapy.

The symptoms of Pseudohypoaldosteronism type 2C (PHA2C) vary from person to person, but may include:

-High blood pressure
-Low levels of potassium in the blood
-Excessive thirst and urination
-Weakness
-Fatigue
-Muscle cramps
-Growth delays
-Developmental delays
-Heart arrhythmias
-Seizures
-Kidney problems
-Abnormal electrolyte levels

Pseudohypoaldosteronism type 2C is caused by a mutation in the SCNN1A gene, which is responsible for encoding the alpha subunit of the epithelial sodium channel (ENaC). This mutation results in a decrease in the activity of ENaC, leading to a decrease in sodium reabsorption in the distal nephron. This leads to a decrease in the production of aldosterone, resulting in the symptoms of pseudohypoaldosteronism type 2C.

The primary treatment for Pseudohypoaldosteronism type 2C is to replace the missing mineralocorticoid hormones with medications such as fludrocortisone or desoxycorticosterone. Other treatments may include dietary modifications, such as increasing salt intake, and medications to control hypertension. In some cases, surgery may be necessary to correct any underlying structural abnormalities.

1. Autosomal recessive inheritance
2. Mutations in the SCNN1G gene
3. Low levels of aldosterone
4. High levels of potassium
5. Low levels of sodium
6. High levels of renin
7. High levels of plasma renin activity
8. Low levels of plasma aldosterone
9. High levels of plasma cortisol
10. Abnormal urinary electrolyte excretion

At this time, there is no cure for Pseudohypoaldosteronism type 2C. However, medications such as diuretics, mineralocorticoids, and sodium supplements can be used to help manage the symptoms. Additionally, lifestyle changes such as a low-salt diet and increased fluid intake can help to reduce the severity of symptoms.