/early-onset familial hypoaldosteronism

early-onset familial hypoaldosteronism

Rare Disease

MONDO:0035320

Also Known As

Early-onset familial hyperreninemic hypoaldosteronismSevere aldosterone synthase deficiency

Definition

A rare type of familial hypoaldosteronism characterized by early infantile onset of vomiting, diarrhea, severe dehydration, and failure to thrive. Analysis of plasma electrolytes shows hyponatremia, hyperkalemia, and acidosis. Plasma renin activity is elevated, and aldosterone levels are low.