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Early-onset familial hypoaldosteronism
rareA 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.
- Identifiers
- MONDO:0035320 Orphanet:556030
- Causal genes
- CYP11B2
- Also known as
- Early-onset familial hyperreninemic hypoaldosteronism · Severe aldosterone synthase deficiency
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