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Early-onset familial hypoaldosteronism

rare

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.

Causal genes
CYP11B2
Also known as
Early-onset familial hyperreninemic hypoaldosteronism · Severe aldosterone synthase deficiency

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