A case of Hyperreninemic hypoaldosteronism with absorptive hypercalciuria, renal hypouricemia and high level of 1,25-dihydroxyvitamin D.

Abstract

 Aldosterone's main actions are to regulate intravascular volume and serum electrolytes by controlling sodium absorbtion and potassium excretion in the distal nephron.
 Isolated hyperreninemic hypoaldosteronism presenting in infancy is a rare desease caused by aldosterone synthase deficiency resulting in hyponatremia, hyperkalemia and hypovolemia.
 Here, we report a case of infant suspected psedohypoaldosteronism with hyponatremia, hyperkalemia, hypovolemia. During clinical course, plasma aldosterone level remains normal ranges of his age despite high level of plasma rennin activity and fludrocortisone therapy was effective against his hyponatremia and hyperkalemia, thus we diagnosed him as hyperreninemic hypoaldosteronism. He also had absorptive hypercalciuria, renal hypouricemia and high plasma level of 1,25-dihydroxyvitamin D.
 The association between renal hypouricemia and absorptive hypercalciuria has been described in the past, but this is the first case of isolated hyperreninemic hypoaldosteronism associated with absorptive hypercalciuria and temporary renal hypouricemia suggesting possibly new syndrome.