Pseudohypoaldosteronism Type I is a group of rare inherited disorders that cause the kidneys to retain too much potassium, but excrete too much sodium and water, leading to hypertension. The symptoms can result from hypotension, hypovolemia, hyponatremia and hyperkalemia. Treatment is with a sodium-rich diet and sometimes fludrocortisone

There are three types of Pseudohypoaldosteronism:

Pseudohypoaldosteronism Type I is a group of rare inherited disorders that cause the kidneys to retain too much potassium, but excrete too much sodium and water, leading to hypertension. The symptoms can result from hypotension, hypovolemia, hyponatremia and hyperkalemia. Treatment is with a sodium-rich diet and sometimes fludrocortisone. There are three types of Pseudohypoaldosteronism: Autosomal recessive Pseudohypoaldosteronism type I autosomal dominant Pseudohypoaldosteronism Type I Type II Pseudohypoaldosteronism Inheritance occurs as an autosomal recessive or autosomal dominant. Pseudohypoaldosteronism type I is similar to other forms of hypoaldosteronism except that aldosterone levels are high. The very rare Pseudohypoaldosteronism Type II is not discussed here. Autosomal recessive Pseudohypoaldosteronism type I autosomal recessive form tends difficult to run and to be permanent. Infants against the effects of aldosterone by mutations which reduced activity of the epithelial sodium channels (ENaC) on the luminal membrane of the “collecting tubule” cause resistant. (Over-activity of ENaC causes potassium excretion and sodium retention Liddle’s syndrome). The sodium channels in tissues other than the kidney can be affected, which are similar to those leading to a miliary rash and / or complications of cystic fibrosis. Autosomal dominant type I Pseudohypoaldosteronism children are resistant to mineralocorticoid due to mutations of the mineralocorticoid receptor. The autosomal dominant form is less difficult in general, mainly refers to the mineralocorticoid receptor in the kidney, and can dissolve in childhood at some point. Diagnosis Plasmarenin- and aldosterone The suspected diagnosis is based on clinical findings of hypovolemia, high serum potassium levels, low serum sodium levels, high renin and aldosterone levels, particularly in infants with a positive family history. The diagnosis is confirmed by genetic testing. Therapy sodium-rich diet and sometimes fludrocortisone A sodium-rich diet helps in maintaining volume and blood pressure, and increased excretion of potassium. If this diet is ineffective, fludrocortisone can (0.5-1.0 mg po 2 times daily or 1-2 mg po 1 times daily) are given.

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