Pseudohypoaldosteronism type 1

Orpha code: 756OMIM code: 264350

Definicja

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
Klasyfikacja

Disease

Synonimy
PHA type 1
PHA type 1
PHA1
Kod ORPHA
756
Kod OMIM
264350
Kod ICD10
N25.8
Kod ICD11
GB90.41

No additional description.

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