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Нирковий псевдогіпоальдостеронізм, тип 1

ORPHA:171871· ICD-10 N25.8· Renal pseudohypoaldosteronism type 1

Визначення(English summary)

A form of pseudohypoaldosteronism type 1 characterized by mild mineralocorticoid resistance that is restricted to the kidneys and that usually improves in early childhood. Typical presentation is in the neonatal period with weight loss, failure to thrive, vomiting and dehydration in association with hyponatremia, hyperkalemia and metabolic acidosis as well as elevated aldosterone and renin levels.

Поширеність
1-9 / 100 000
Успадкування
Autosomal dominant
Вік початку
Infancy, Neonatal