pseudohypoaldosteronism type 1
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.
MONDO:0015962
inherited renal tubular disease
is_a
MONDO:0100323
inherited pseudohypoaldosteronism
is_a
PHA type 1
exact
PHA1B
narrow
pseudohypoaldosteronism type I autosomal recessive
narrow
pseudohypoaldosteronism, type I
exact