Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disease of mineralocorticoid resistance characterized by salt wasting and failure to thrive in infancy. Here we describe the first case of a newborn with severe recessive PHA1 caused by two heterozygous mutations in NR3C2, gene coding for the mineralocorticoid receptor (MR). Independent segregation of the mutations occurred in the family, ...

UNLABELLED Autosomal recessive pseudohypoaldosteronism type 1 (PHA1) is a rare disorder characterized by sodium wasting, failure to thrive, hyperkalemia, hypovolemia and metabolic acidosis. It is due to mutations in the amiloride-sensitive epithelial sodium channel (ENaC) and is characterized by diminished response to aldosterone. Patients may present with life-threatening hyperkalemia, which m...

Autosomal recessive Pseudohypoaldosteronism Type I (PHA-I, MIM#264350), is a rare disease with a severe clinical phenotype [1,2] and generally no improvement with age [3]. It results from mutations in the amiloridesensitive epithelial sodium channel causing mineralocorticoid-resistant (ENaC), systemic salt wasting, and is lethal without ongoing supra-physiological sodium supplementation and man...

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...

Pseudohypoaldosteronism type 1 is a rare disorder characterized by renal resistance to aldosterone which may present with a salt wasting crisis in infancy. We report a neonate with hyponatremia, severe dehydration and refractory life threatening hyperkalemia who was treated with dietary sodium chloride supplementation, potassium binding resins and fluid replacement therapy which proved to be li...

Pseudohypoaldosteronism (PHA) type 1 is a heterogeneous group of disorder electrolyte metabolism characterized by apparent renal tubular unresponsiveness to aldosterone action. PHA-1 manifested hyponatremia, hyperkalemia, metabolic acidosis and may present as salt wasting crisis with elevated levels renin aldosterone. subdivided into two types varying degree severity. The earliest sign both poo...