PSEUDOHYPOALDOSTERONISM Clinical, Biochemical and Morphological Studies in a Long‐term Follow‐up

Abstract

A boy with pseudohypoaldosteronism was followed from birth to the age of 7 years. Failure to thrive, vomiting, dehydration, hyponatraemia and urinary sodium loss were prominent findings. Urinary excretion of corticosteroid metabolites was normal. Before treatment, excessively high plasma renin concentration was found, associated with a marked activation of aldosterone secretion. A renal biopsy showed pronounced hypertrophy of the juxtaglomerular apparatus. Persisting metabolic acidosis and an insufficient urinary acidifying capacity suggested the presence of distal renal tubular acidosis. Treatment with sodium bicarbonate and sodium chloride from 19 to 31 months of age resulted in normal growth and normal physical and mental development. The plasma electrolytes were normalized but a pronounced activation of the renin-aldosterone system persisted after therapy, and on sodium restriction this system responded with a considerable further activation.

Type I Pseudohypoaldosteronism Includes Two Clinically and Genetically Distinct Entities with either Renal or Multiple Target Organ Defects

“…In contrast to aldosterone levels, PRA decreased to normal levels in all patients with advancing age. These results are consistent with a few determinations reported in older patients (5,7,24,30). We suggest the following explanation for the persistence of hyperaldosteronism in the face of normal renin in older patients with renal PHA.…”

“…In contrast, in the multiple form of PHA, hyperaldosteronism is limited to symptomatic patients only. Hyperaldosteronism was previously reported in children with renal PHA several years after spontaneous recovery (4,15,16,21,24) and in a few adults (5-7, 16, 30). However, in these studies periodic determinations of both aldosterone and PRA, were not carried out over a prolonged period.…”

“…In patients with the renal form there does not appear to be a defect in other aldosterone responsive organs, since the sweat (index case of kindred I, 7-10,16, 21-24) and salivary electrolytes (24,25), and binding of aldosterone to colonic mucosal cells (15) appear normal. In contrast, in the multiple form of PHA, as in kindred II, unresponsiveness to aldosterone is observed not only in kidneys but also in sweat and salivary glands, and colon ( Table 5).…”

Renal Genetic Disorders Related to K+ and Mg2+

“…It is an autosomal-recessive disorder that involves multiple organ systems and is especially marked in the neonatal period with vomiting, hyponatremia, failure to thrive, and occasionally the respiratory distress syndrome. These children do not respond to exogenous mineralocorticoids, but with aggressive salt replacement and control of hyperkalemia, they can survive and the severity of the disorder appears to lessen as they mature (109,110).…”

Pseudohypoaldosteronism following Kidney Transplantation

“…Tu bular unresponsiveness to mineralocorticoid is rare in adults but more than 20 cases have been described in children. The term pseudohypoaldosteronism has been used to characterize this syndrome which usually occurs in infancy, responds well to salt supplementation but not to mineralocorticoid, and which usually clears during the first several years of life [5][6][7].…”