Renal pseudohypoaldosteronism type 1

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Renal pseudohypoaldosteronism type 1

Synonyms: Autosomal dominant PHA1 | Autosomal dominant pseudohypoaldosteronism type 1 | Renal PHA1

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version December 2023

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Renal pseudohypoaldosteronism type 1?

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