Pseudohypoaldosteronism type 1

Orpha code: 756OMIM code: 264350

Definition

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.

Disease data
Classification

Disease

Synonyms
PHA type 1
PHA type 1
PHA1
ORPHA code
756
OMIM code
264350
ICD10 code
N25.8
ICD11 code
GB90.41

No additional description.

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