autosomal dominant pseudohypoaldosteronism type 1

info · Genetic

A pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that has_material_basis_in heterozygous mutation in the NR3C2 gene on chromosome 4q31.

Signs and symptoms

Hyperkalemia
Hyponatremia
Diarrhea
Vomiting
Feeding difficulties
Failure to thrive
Increased circulating aldosterone concentration
Increased circulating renin concentration
Pseudohypoaldosteronism
Dehydration

Also known as: PHA1A; autosomal dominant PHA 1