Abstract

Apparent mineralcorticoid excess syndrome is an autosomal recessive disorder characterized by hypertension and hypokalemia. There are less than 100 cases described in the world, due to mutations in the HSD11B2 gene (16q22). Clinically it is characterized by polyuria and polydipsia with onset usually in early childhood, failure to thrive and severe arterial hypertension, with low renin and aldosterone levels, hypokalemia, metabolic alkalosis and nephrocalcinosis. The prognosis is poor, with the possibility of death due to sequelae of severe arterial hypertension (stroke, heart failure and renal failure). However, the prognosis with adequate treatment appears to be good.

        · resumen en Español     · texto en Español     · Español ( pdf )