Early-onset familial hypoaldosteronism
ICD-10 Code
E27.4
Early-onset familial hypoaldosteronism
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.
Also known as Early-onset familial hyperreninemic hypoaldosteronism, Severe aldosterone synthase deficiency — per MONDO