Early-onset familial hypoaldosteronism

Orpha code: 556030OMIM code:

Definicja

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
Klasyfikacja

Clinical subtype

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

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl