Renal pseudohypoaldosteronism type 1

Orpha code: 171871OMIM code: 177735

Definition

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.

Disease data
Classification

Clinical subtype

Synonyms
Autosomal dominant PHA1
Autosomalny dominujący pseudohipoaldosteronizm typu 1
Autosomal dominant pseudohypoaldosteronism type 1
Renal PHA1
ORPHA code
171871
OMIM code
177735
ICD10 code
N25.8
ICD11 code
GB90.41

No additional description.

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