pseudohypoaldosteronism

PSEUDOHYPOALDOSTERONISM: A CASE REPORT

A four day old female infant was admitted because of poor feeding, vomiting and jaundice. Laboratory examination showed hyperkalemia, mild hyponatremia and renal tubular acidosis type 4. Serum aldosterone and plasma renin activity were elevated but serum cortisol, 17 -hydroxyprogesterone, ACTH, 24 hour urinary 17- ketoste roid, pregnanetriol, renal function and sonogram were normal and henc...

Sporadic pseudohypoaldosteronism: A challenging diagnosis

Introduction: Pseudohypoaldosteronism (PHA) is a rare form of salt­wasting syndrome, caused by peripheral resistance to aldosterone. PHA is of three types: PHA type 1, 2, 3. Pseudohypoaldosteronism type 1 (PHA1) is further differentiated into, (i) hereditary forms, autosomal recessive and dominant, which are caused by epithelial sodium channel and mineralocorticoid receptor mutations respective...

Disturbances of Na/K balance: pseudohypoaldosteronism revisited.

Introduction Pseudohypoaldosteronism (PHA) is a heterogenous syndrome resulting from the inability for aldosterone to produce one of its physiologic effects, namely the promotion of potassium and hydrogen secretion. It is thus characterized by three essential features: (1) hyperkalemia, (2) metabolic acidosis, and (3) abnormally elevated plasma aldosterone concentrations. It has been classified...

A molecular update on pseudohypoaldosteronism type II.

The DCT (distal convoluted tubule) is the site of microregulation of water reabsorption and ion handling in the kidneys, which is mainly under the control of aldosterone. Aldosterone binds to and activates mineralocorticoid receptors, which ultimately lead to increased sodium reabsorption in the distal part of the nephron. Impairment of mineralocorticoid signal transduction results in resistanc...

Pseudohypoaldosteronism in a family with variable presentation.

Dermal and Ophthalmic Findings in Pseudohypoaldosteronism

Pseudohypoaldosteronism (PHA) is defined as a state of resistance to aldosterone, a hormone crucial for electrolyte equilibrium. The genetically transmitted type of PHA is primary hypoaldosteronism. Secondary hypoaldosteronism develops as a result of hydronephrosis or hydroureter. PHA patients suffer from severe hyponatremia and a severe clinical condition due to severe loss of salt can be enco...