Ранній сімейний гіпоальдостеронізм
ORPHA:556030· ICD-10 E27.4· Early-onset familial hypoaldosteronism
Визначення(English summary)
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.
- Поширеність
- Unknown
- Успадкування
- Autosomal recessive
- Вік початку
- Adolescent, Childhood, Infancy, Neonatal