Early-onset familial hypoaldosteronism

Orpha code: 556030OMIM code:

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.

Disease data
Classification

Clinical subtype

Synonyms
Early-onset familial hyperreninemic hypoaldosteronism
Ciężki niedobór syntazy aldosterony
Severe aldosterone synthase deficiency
ORPHA code
556030
OMIM code
-
ICD10 code
E27.4
ICD11 code
-

No additional description.

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