Generalized pseudohypoaldosteronism type 1

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Generalized pseudohypoaldosteronism type 1

Synonyms: Autosomal recessive PHA1 | Autosomal recessive pseudohypoaldosteronism type 1 | Generalized PHA1

A severe form of pseudohypoaldosteronism type 1 characterized by salt wasting in multiple organs including the kidney colon and sweat and salivary glands. Presentation is in the first few weeks of life with severe dehydration vomiting and failure to thrive in association with hyponatremia hyperkalemia and metabolic acidosis as well as elevated aldosterone and renin levels. No remission is reported and patients suffer from recurrent life-threatening episodes of salt loss.

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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Generalized pseudohypoaldosteronism type 1?

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