Definition
Pseudohypoaldosteronism type 1 is a rare disease characterized by salt wasting, hyperkalemia and metabolic acidosis as a result of kidney resistance to aldosterone hormone.
Symptoms
- Vomiting
- Dehydration
- Growth retardation
- Hyperkalemia
Reasons
Mineralocorticoid receptor mutation (autosomal dominant) or epithelial sodium channel (ENaC) mutations (autosomal recessive).
Diagnosis
High aldosterone and renin in the blood, hyperkalemia, hyponatremia.
Treatment
High-dose salt replacement, sodium polystyrene sulfonate (for hyperkalaemia).
Which Polyclinic Should You Apply To?
Pediatric Endocrinology Polyclinic or Pediatric Nephrology Outpatient Clinic
What to Do in an Emergency?
In case of severe hyperkalemia (muscle weakness, risk of cardiac arrhythmia), emergency services should be consulted immediately.
This page is for general information purposes only.