Pseudohypoaldosteronism type 1
Synonyms: PHA type 1 | PHA1
A rare primary form of mineralocorticoid resistance characterized by mild to profound salt wasting either restricted to the kidney (renal pseudohypoaldosteronism type 1) or generalized affecting many organs (generalized pseudohypoaldosteronism type 1). Clinical presentation is in the neonatal period with failure to thrive vomiting and dehydration with biochemical findings of hyperkalaemia metabolic acidosis and elevated plasma aldosterone and renin concentration.
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 http://www.orphadata.org. Data version April 2024
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Pseudohypoaldosteronism type 1?
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