SALT WASTING NEPHROPATHY OR “PSEUDOHYPOALDOSTERONISM” IN TWINS

A mouse model for the renal salt-wasting syndrome pseudohypoaldosteronism.

Aldosterone-dependent epithelial sodium transport in the distal nephron is mediated by the absorption of sodium through the highly selective, amiloride-sensitive epithelial sodium channel (ENaC) made of three homologous subunits (alpha, beta, and gamma). In human, autosomal recessive mutations of alpha, beta, or gammaENaC subunits cause pseudohypoaldosteronism type 1 (PHA-1), a renal salt-wasti...

Treatment of severe salt-wasting nephropathy.

Autosomal Dominant Pseudohypoaldosteronism Type 1 in an Infant with Salt Wasting Crisis Associated with Urinary Tract Infection and Obstructive Uropathy

Type 1 pseudohypoaldosteronism (PHA1) is a salt wasting syndrome caused by renal resistance to aldosterone. Primary renal PHA1 or autosomal dominant PHA1 is caused by mutations in mineralocorticoids receptor gene (NR3C2), while secondary PHA1 is frequently associated with urinary tract infection (UTI) and/or urinary tract malformations (UTM). We report a 14-day-old male infant presenting with s...

Aldosterone in cerebral salt wasting.

ALTHOUGH recent studies of patients with cerebral and pulmonary salt wasting have implicated "inappropriate"' anti-diuretic hormone secretion as the basic defect, the norinality of aldosterone responsiveness has not been firmly established.'-' This paper reports a patient with cerebral salt wasting and hyponatremia in whom bal anee studies suggested normal aldosterone response and inappropriate...

Cerebral salt wasting syndrome: review.

Hyponatremia is the most frequent electrolyte disorder in critically neurological patients. Cerebral salt wasting syndrome (CSW) is defined as a renal loss of sodium during intracranial disease leading to hyponatremia and a decrease in extracellular fluid volume. The pathogenesis of this disorder is still not completely understood. Sympathetic responses as well as some natriuretic factors play ...