Generalized pseudohypoaldosteronism type 1

Orpha code: 171876OMIM code: 264350

Definition

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.

Disease data
Classification

Clinical subtype

Synonyms
Autosomal recessive PHA1
Autosomalny recesywny pseudohipoaldosteronizm typu 1
Autosomal recessive pseudohypoaldosteronism type 1
Generalized PHA1
ORPHA code
171876
OMIM code
264350
ICD10 code
N25.8
ICD11 code
GB90.41

No additional description.

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