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Renal pseudohypoaldosteronism type 1
Disease definition
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.
ORPHA:171871
Classification level: Subtype of disorderDetailed information
Article for general public
Professionals
- Guidance for genetic testing
- Français (2015, pdf)
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