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Early-onset familial hypoaldosteronism

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Name:
Early-onset familial hypoaldosteronism
Description:
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.
ORPHAcode:
556030
Synonyms:
Early-onset familial hyperreninemic hypoaldosteronism
Severe aldosterone synthase deficiency
XREF(s):
Orphanet
Analyte(s):
CYP11B2
Created:
17 May 2022 - 02:46
Changed:
22 Jun 2023 - 16:14